From 6a68afd67999c36cf5d5f50012f7dd1f4409f361 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 30 Mar 2023 00:34:42 -0700 Subject: [PATCH] 29.03 release --- docs/metrics/doid.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 2 +- docs/metrics/ordo.md | 2 +- docs/reports/mapped_deprecated.md | 4 +- docs/reports/mapped_deprecated_omim.md | 53 +- docs/reports/mapped_deprecated_ordo.md | 48 +- docs/reports/unmapped.md | 16 +- docs/reports/unmapped_doid.md | 2116 +- docs/reports/unmapped_icd10cm.md | 1 - docs/reports/unmapped_ncit.md | 247 +- docs/reports/unmapped_omim.md | 117 +- docs/reports/unmapped_ordo.md | 64 - src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- .../mondo-sources-all-lexical-2.sssom.tsv | 26387 ++++++++-------- src/mappings/ncit.sssom.tsv | 2 +- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 44 +- .../mondo-only/unmapped_doid_mondo.tsv | 4 + .../mondo-only/unmapped_doid_mondo_exact.tsv | 1 - .../mondo-only/unmapped_ncit_mondo.tsv | 8 +- .../mondo-only/unmapped_ncit_mondo_exact.tsv | 29 +- .../mondo-only/unmapped_omim_mondo.tsv | 105 +- .../mondo-only/unmapped_omim_mondo_exact.tsv | 90 +- .../mondo-only/unmapped_ordo_mondo.tsv | 9 +- .../mondo-only/unmapped_ordo_mondo_exact.tsv | 52 +- .../mondo_broadmatch_doid.tsv | 8 - .../mondo_broadmatch_ncit.tsv | 2 +- .../mondo_closematch_doid.tsv | 1066 +- .../mondo_closematch_ncit.tsv | 41 +- .../mondo_closematch_omim.tsv | 5 + .../mondo_closematch_orphanet.tsv | 11 +- .../mondo_exactmatch_doid.tsv | 891 +- .../mondo_exactmatch_icd10cm.tsv | 461 +- .../mondo_exactmatch_ncit.tsv | 309 +- .../mondo_exactmatch_omim.tsv | 222 +- .../mondo_exactmatch_orphanet.tsv | 131 +- .../mondo_narrowmatch_doid.tsv | 24 +- src/ontology/lexmatch/unmapped_doid_lex.tsv | 429 +- .../lexmatch/unmapped_doid_lex_exact.tsv | 423 +- src/ontology/lexmatch/unmapped_icd_lex.tsv | 409 +- .../lexmatch/unmapped_icd_lex_exact.tsv | 2 +- src/ontology/lexmatch/unmapped_ncit_lex.tsv | 6 +- .../lexmatch/unmapped_ncit_lex_exact.tsv | 241 - src/ontology/lexmatch/unmapped_omim_lex.tsv | 16 +- .../lexmatch/unmapped_omim_lex_exact.tsv | 33 +- src/ontology/lexmatch/unmapped_ordo_lex.tsv | 9 +- .../lexmatch/unmapped_ordo_lex_exact.tsv | 61 - src/ontology/metadata/doid-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 2 +- src/ontology/metadata/ordo-metrics.json | 2 +- src/ontology/reports/doid_mapping_status.tsv | 1142 +- src/ontology/reports/doid_unmapped_terms.tsv | 570 +- .../reports/icd10cm_mapping_status.tsv | 2 +- .../reports/icd10cm_unmapped_terms.tsv | 1 - .../reports/mirror_signature-mondo.tsv | 57 + src/ontology/reports/ncit_mapping_status.tsv | 514 +- src/ontology/reports/ncit_unmapped_terms.tsv | 247 +- ...mapped_deprecated_terms.robot.template.tsv | 51 - src/ontology/reports/omim_mapping_status.tsv | 338 +- src/ontology/reports/omim_unmapped_terms.tsv | 115 +- ...mapped_deprecated_terms.robot.template.tsv | 48 +- src/ontology/reports/ordo_mapping_status.tsv | 222 +- src/ontology/reports/ordo_unmapped_terms.tsv | 64 - src/ontology/slurp/doid.tsv | 638 +- src/ontology/slurp/ncit.tsv | 271 +- src/ontology/slurp/omim.tsv | 126 +- src/ontology/slurp/ordo.tsv | 37 +- 75 files changed, 16244 insertions(+), 22432 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 3ad2000b..0495d194 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/doid.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 5003ee3b..4f3efd41 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index b5932814..fb762056 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index e8f3bbe1..ae6f7937 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 9e3db561..2d7f6b02 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/omim.owl ### Entities and axioms diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index f2dbd6b4..50709cd3 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 01778ba2..8b7cf8dc 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -1,8 +1,8 @@ # Mapped deprecated terms | Ontology | Tot deprecated in Mondo | |:--------------------------------------------|--------------------------:| -| [OMIM](./mapped_deprecated_omim.md) | 98 | -| [ORDO](./mapped_deprecated_ordo.md) | 620 | +| [ORDO](./mapped_deprecated_ordo.md) | 574 | +| [OMIM](./mapped_deprecated_omim.md) | 47 | | [NCIT](./mapped_deprecated_ncit.md) | 33 | | [DOID](./mapped_deprecated_doid.md) | 26 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index 31d10267..3391da0a 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -5,99 +5,48 @@ | ID | ID | A oboInOwl:source | | MONDO:0000911 | OMIM:613740 | MONDO:equivalentObsolete | | MONDO:0007061 | OMIM:102590 | MONDO:equivalentObsolete | -| MONDO:0007418 | OMIM:124400 | MONDO:equivalentObsolete | | MONDO:0007602 | OMIM:134700 | MONDO:equivalentObsolete | -| MONDO:0007617 | OMIM:609943 | MONDO:equivalentObsolete | -| MONDO:0007617 | OMIM:614562 | MONDO:equivalentObsolete | | MONDO:0007659 | OMIM:137560 | MONDO:equivalentObsolete | -| MONDO:0007779 | OMIM:145410 | MONDO:equivalentObsolete | | MONDO:0007801 | OMIM:146400 | MONDO:equivalentObsolete | -| MONDO:0007818 | OMIM:146840 | MONDO:equivalentObsolete | -| MONDO:0007903 | OMIM:609266 | MONDO:equivalentObsolete | | MONDO:0008074 | OMIM:162020 | MONDO:equivalentObsolete | | MONDO:0008091 | OMIM:162820 | MONDO:equivalentObsolete | | MONDO:0008126 | OMIM:164891 | MONDO:equivalentObsolete | | MONDO:0008204 | OMIM:168850 | MONDO:equivalentObsolete | -| MONDO:0008289 | OMIM:607595 | MONDO:equivalentObsolete | | MONDO:0008409 | OMIM:181430 | MONDO:equivalentObsolete | | MONDO:0008415 | OMIM:181515 | MONDO:equivalentObsolete | | MONDO:0008448 | OMIM:182920 | MONDO:equivalentObsolete | -| MONDO:0008490 | OMIM:277610 | MONDO:equivalentObsolete | -| MONDO:0008523 | OMIM:609464 | MONDO:equivalentObsolete | -| MONDO:0008774 | OMIM:245130 | MONDO:equivalentObsolete | -| MONDO:0008885 | OMIM:603463 | MONDO:equivalentObsolete | -| MONDO:0009194 | OMIM:614894 | MONDO:equivalentObsolete | -| MONDO:0009302 | OMIM:233430 | MONDO:equivalentObsolete | -| MONDO:0009307 | OMIM:233670 | MONDO:equivalentObsolete | | MONDO:0009535 | OMIM:247440 | MONDO:equivalentObsolete | | MONDO:0009654 | OMIM:252700 | MONDO:equivalentObsolete | -| MONDO:0009679 | OMIM:253900 | MONDO:equivalentObsolete | | MONDO:0010045 | OMIM:270710 | MONDO:equivalentObsolete | -| MONDO:0010205 | OMIM:278100 | MONDO:equivalentObsolete | -| MONDO:0010258 | OMIM:300987 | MONDO:equivalentObsolete | | MONDO:0010291 | OMIM:300274 | MONDO:equivalentObsolete | -| MONDO:0010295 | OMIM:300301 | MONDO:equivalentObsolete | -| MONDO:0010327 | OMIM:300220 | MONDO:equivalentObsolete | | MONDO:0010340 | OMIM:300494 | MONDO:equivalentObsolete | | MONDO:0010343 | OMIM:300497 | MONDO:equivalentObsolete | | MONDO:0010346 | OMIM:300504 | MONDO:equivalentObsolete | | MONDO:0010357 | OMIM:300551 | MONDO:equivalentObsolete | -| MONDO:0010368 | OMIM:300584 | MONDO:equivalentObsolete | | MONDO:0010387 | OMIM:300640 | MONDO:equivalentObsolete | | MONDO:0010394 | OMIM:300660 | MONDO:equivalentObsolete | | MONDO:0010470 | OMIM:300881 | MONDO:equivalentObsolete | | MONDO:0010527 | OMIM:301590 | MONDO:equivalentObsolete | -| MONDO:0010600 | OMIM:138990 | MONDO:equivalentObsolete | | MONDO:0010601 | OMIM:306500 | MONDO:equivalentObsolete | | MONDO:0010666 | OMIM:309605 | MONDO:equivalentObsolete | -| MONDO:0010720 | OMIM:307300 | MONDO:equivalentObsolete | -| MONDO:0010720 | OMIM:312100 | MONDO:equivalentObsolete | | MONDO:0010804 | OMIM:600048 | MONDO:equivalentObsolete | | MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete | -| MONDO:0010911 | OMIM:600634 | MONDO:equivalentObsolete | -| MONDO:0010936 | OMIM:614696 | MONDO:equivalentObsolete | -| MONDO:0010957 | OMIM:600908 | MONDO:equivalentObsolete | | MONDO:0010975 | OMIM:600996 | MONDO:equivalentObsolete | | MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete | -| MONDO:0011362 | OMIM:607569 | MONDO:equivalentObsolete | -| MONDO:0011401 | OMIM:611155 | MONDO:equivalentObsolete | | MONDO:0011543 | OMIM:605365 | MONDO:equivalentObsolete | -| MONDO:0011806 | OMIM:609143 | MONDO:equivalentObsolete | -| MONDO:0011835 | OMIM:613832 | MONDO:equivalentObsolete | | MONDO:0011910 | OMIM:607801 | MONDO:equivalentObsolete | -| MONDO:0011939 | OMIM:271550 | MONDO:equivalentObsolete | -| MONDO:0012017 | OMIM:608355 | MONDO:equivalentObsolete | -| MONDO:0012215 | OMIM:159000 | MONDO:equivalentObsolete | -| MONDO:0012247 | OMIM:609307 | MONDO:equivalentObsolete | | MONDO:0012279 | OMIM:609456 | MONDO:equivalentObsolete | | MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete | | MONDO:0012560 | OMIM:610799 | MONDO:equivalentObsolete | -| MONDO:0012853 | OMIM:233500 | MONDO:equivalentObsolete | -| MONDO:0012878 | OMIM:612359 | MONDO:equivalentObsolete | -| MONDO:0013476 | OMIM:613875 | MONDO:equivalentObsolete | | MONDO:0013596 | OMIM:614157 | MONDO:equivalentObsolete | | MONDO:0013617 | OMIM:614192 | MONDO:equivalentObsolete | | MONDO:0013701 | OMIM:614339 | MONDO:equivalentObsolete | -| MONDO:0013736 | OMIM:614408 | MONDO:equivalentObsolete | -| MONDO:0013753 | OMIM:608591 | MONDO:equivalentObsolete | -| MONDO:0014045 | OMIM:615106 | MONDO:equivalentObsolete | -| MONDO:0014089 | OMIM:616964 | MONDO:equivalentObsolete | -| MONDO:0014243 | OMIM:208080 | MONDO:equivalentObsolete | -| MONDO:0014353 | OMIM:216920 | MONDO:equivalentObsolete | -| MONDO:0014806 | OMIM:271225 | MONDO:equivalentObsolete | | MONDO:0014849 | OMIM:616958 | MONDO:equivalentObsolete | -| MONDO:0015912 | OMIM:153640 | MONDO:equivalentObsolete | -| MONDO:0015912 | OMIM:600208 | MONDO:equivalentObsolete | -| MONDO:0015912 | OMIM:605249 | MONDO:equivalentObsolete | | MONDO:0017996 | OMIM:615057 | MONDO:equivalentObsolete | | MONDO:0018138 | OMIM:103470 | MONDO:equivalentObsolete | | MONDO:0019348 | OMIM:300537 | MONDO:equivalentObsolete | | MONDO:0020668 | OMIM:600146 | MONDO:equivalentObsolete | -| MONDO:0021569 | OMIM:159001 | MONDO:equivalentObsolete | | MONDO:0023873 | OMIM:163955 | MONDO:equivalentObsolete | | MONDO:0024293 | OMIM:175020 | MONDO:equivalentObsolete | | MONDO:0024996 | OMIM:276905 | MONDO:equivalentObsolete | -| MONDO:0027416 | OMIM:601251 | MONDO:equivalentObsolete | -| MONDO:0030914 | OMIM:300602 | MONDO:equivalentObsolete | -| MONDO:0033613 | OMIM:603513 | MONDO:equivalentObsolete | -| MONDO:0100255 | OMIM:611094 | MONDO:equivalentObsolete | \ No newline at end of file +| MONDO:0027416 | OMIM:601251 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index de73873d..ab326bdd 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -62,7 +62,6 @@ | MONDO:0006559 | Orphanet:387 | MONDO:equivalentObsolete | | MONDO:0006761 | Orphanet:336 | MONDO:equivalentObsolete | | MONDO:0006802 | Orphanet:83449 | MONDO:equivalentObsolete | -| MONDO:0007001 | Orphanet:95458 | MONDO:equivalentObsolete | | MONDO:0007020 | Orphanet:97354 | MONDO:equivalentObsolete | | MONDO:0007035 | Orphanet:924 | MONDO:equivalentObsolete | | MONDO:0007040 | Orphanet:3128 | MONDO:equivalentObsolete | @@ -73,7 +72,6 @@ | MONDO:0007217 | Orphanet:93393 | MONDO:equivalentObsolete | | MONDO:0007222 | Orphanet:93385 | MONDO:equivalentObsolete | | MONDO:0007275 | Orphanet:50838 | MONDO:equivalentObsolete | -| MONDO:0007361 | Orphanet:459353 | MONDO:equivalentObsolete | | MONDO:0007393 | Orphanet:1339 | MONDO:equivalentObsolete | | MONDO:0007465 | Orphanet:1683 | MONDO:equivalentObsolete | | MONDO:0007476 | Orphanet:79142 | MONDO:equivalentObsolete | @@ -93,10 +91,8 @@ | MONDO:0007809 | Orphanet:79504 | MONDO:equivalentObsolete | | MONDO:0007810 | Orphanet:462 | MONDO:equivalentObsolete | | MONDO:0007811 | Orphanet:2267 | MONDO:equivalentObsolete | -| MONDO:0007861 | Orphanet:2343 | MONDO:equivalentObsolete | | MONDO:0007899 | Orphanet:33409 | MONDO:equivalentObsolete | | MONDO:0007972 | Orphanet:45360 | MONDO:equivalentObsolete | -| MONDO:0008207 | Orphanet:1428 | MONDO:equivalentObsolete | | MONDO:0008225 | Orphanet:680 | MONDO:equivalentObsolete | | MONDO:0008228 | Orphanet:120 | MONDO:equivalentObsolete | | MONDO:0008231 | Orphanet:2870 | MONDO:equivalentObsolete | @@ -106,12 +102,10 @@ | MONDO:0008487 | Orphanet:3185 | MONDO:equivalentObsolete | | MONDO:0008490 | Orphanet:3450 | MONDO:equivalentObsolete | | MONDO:0008523 | Orphanet:90341 | MONDO:equivalentObsolete | -| MONDO:0008606 | Orphanet:3133 | MONDO:equivalentObsolete | | MONDO:0008672 | Orphanet:3444 | MONDO:equivalentObsolete | | MONDO:0008685 | Orphanet:907 | MONDO:equivalentObsolete | | MONDO:0008771 | Orphanet:171836 | MONDO:equivalentObsolete | | MONDO:0008885 | Orphanet:157788 | MONDO:equivalentObsolete | -| MONDO:0009038 | Orphanet:1533 | MONDO:equivalentObsolete | | MONDO:0009043 | Orphanet:3221 | MONDO:equivalentObsolete | | MONDO:0009056 | Orphanet:1557 | MONDO:equivalentObsolete | | MONDO:0009128 | Orphanet:2650 | MONDO:equivalentObsolete | @@ -139,7 +133,6 @@ | MONDO:0009969 | Orphanet:1092 | MONDO:equivalentObsolete | | MONDO:0010030 | Orphanet:378 | MONDO:equivalentObsolete | | MONDO:0010045 | Orphanet:2823 | MONDO:equivalentObsolete | -| MONDO:0010069 | Orphanet:94095 | MONDO:equivalentObsolete | | MONDO:0010070 | Orphanet:93301 | MONDO:equivalentObsolete | | MONDO:0010074 | Orphanet:93303 | MONDO:equivalentObsolete | | MONDO:0010098 | Orphanet:3289 | MONDO:equivalentObsolete | @@ -169,7 +162,6 @@ | MONDO:0011122 | Orphanet:521399 | MONDO:equivalentObsolete | | MONDO:0011125 | Orphanet:670 | MONDO:equivalentObsolete | | MONDO:0011182 | Orphanet:35056 | MONDO:equivalentObsolete | -| MONDO:0011191 | Orphanet:464293 | MONDO:equivalentObsolete | | MONDO:0011303 | Orphanet:93213 | MONDO:equivalentObsolete | | MONDO:0011362 | Orphanet:34521 | MONDO:equivalentObsolete | | MONDO:0011431 | Orphanet:99715 | MONDO:equivalentObsolete | @@ -210,9 +202,7 @@ | MONDO:0015095 | Orphanet:101033 | MONDO:equivalentObsolete | | MONDO:0015102 | Orphanet:101106 | MONDO:equivalentObsolete | | MONDO:0015120 | Orphanet:101949 | MONDO:equivalentObsolete | -| MONDO:0015160 | Orphanet:102284 | MONDO:equivalentObsolete | | MONDO:0015163 | Orphanet:102373 | MONDO:equivalentObsolete | -| MONDO:0015167 | Orphanet:1034 | MONDO:equivalentObsolete | | MONDO:0015172 | Orphanet:103912 | MONDO:equivalentObsolete | | MONDO:0015173 | Orphanet:103916 | MONDO:equivalentObsolete | | MONDO:0015174 | Orphanet:103917 | MONDO:equivalentObsolete | @@ -224,7 +214,6 @@ | MONDO:0015288 | Orphanet:137586 | MONDO:equivalentObsolete | | MONDO:0015297 | Orphanet:137653 | MONDO:equivalentObsolete | | MONDO:0015308 | Orphanet:137871 | MONDO:equivalentObsolete | -| MONDO:0015343 | Orphanet:139420 | MONDO:equivalentObsolete | | MONDO:0015358 | Orphanet:140450 | MONDO:equivalentObsolete | | MONDO:0015398 | Orphanet:141136 | MONDO:equivalentObsolete | | MONDO:0015424 | Orphanet:1420 | MONDO:equivalentObsolete | @@ -233,23 +222,15 @@ | MONDO:0015474 | Orphanet:1549 | MONDO:equivalentObsolete | | MONDO:0015486 | Orphanet:2335 | MONDO:equivalentObsolete | | MONDO:0015493 | Orphanet:156156 | MONDO:equivalentObsolete | -| MONDO:0015550 | Orphanet:158661 | MONDO:equivalentObsolete | | MONDO:0015551 | Orphanet:158665 | MONDO:equivalentObsolete | | MONDO:0015559 | Orphanet:158793 | MONDO:equivalentObsolete | | MONDO:0015560 | Orphanet:158796 | MONDO:equivalentObsolete | | MONDO:0015569 | Orphanet:162521 | MONDO:equivalentObsolete | -| MONDO:0015588 | Orphanet:163892 | MONDO:equivalentObsolete | | MONDO:0015589 | Orphanet:163895 | MONDO:equivalentObsolete | -| MONDO:0015590 | Orphanet:163898 | MONDO:equivalentObsolete | -| MONDO:0015591 | Orphanet:163903 | MONDO:equivalentObsolete | -| MONDO:0015592 | Orphanet:163908 | MONDO:equivalentObsolete | | MONDO:0015593 | Orphanet:163914 | MONDO:equivalentObsolete | | MONDO:0015594 | Orphanet:163918 | MONDO:equivalentObsolete | -| MONDO:0015596 | Orphanet:163924 | MONDO:equivalentObsolete | | MONDO:0015602 | Orphanet:163988 | MONDO:equivalentObsolete | -| MONDO:0015731 | Orphanet:171201 | MONDO:equivalentObsolete | | MONDO:0015732 | Orphanet:171208 | MONDO:equivalentObsolete | -| MONDO:0015733 | Orphanet:171215 | MONDO:equivalentObsolete | | MONDO:0015742 | Orphanet:171676 | MONDO:equivalentObsolete | | MONDO:0015752 | Orphanet:171860 | MONDO:equivalentObsolete | | MONDO:0015838 | Orphanet:180118 | MONDO:equivalentObsolete | @@ -276,10 +257,8 @@ | MONDO:0016271 | Orphanet:213741 | MONDO:equivalentObsolete | | MONDO:0016297 | Orphanet:216445 | MONDO:equivalentObsolete | | MONDO:0016298 | Orphanet:216452 | MONDO:equivalentObsolete | -| MONDO:0016332 | Orphanet:217601 | MONDO:equivalentObsolete | | MONDO:0016373 | Orphanet:221106 | MONDO:equivalentObsolete | | MONDO:0016377 | Orphanet:221150 | MONDO:equivalentObsolete | -| MONDO:0016412 | Orphanet:226310 | MONDO:equivalentObsolete | | MONDO:0016420 | Orphanet:227786 | MONDO:equivalentObsolete | | MONDO:0016451 | Orphanet:228315 | MONDO:equivalentObsolete | | MONDO:0016452 | Orphanet:228318 | MONDO:equivalentObsolete | @@ -288,9 +267,7 @@ | MONDO:0016572 | Orphanet:2431 | MONDO:equivalentObsolete | | MONDO:0016583 | Orphanet:2454 | MONDO:equivalentObsolete | | MONDO:0016615 | Orphanet:247839 | MONDO:equivalentObsolete | -| MONDO:0016616 | Orphanet:247846 | MONDO:equivalentObsolete | | MONDO:0016617 | Orphanet:247854 | MONDO:equivalentObsolete | -| MONDO:0016618 | Orphanet:247861 | MONDO:equivalentObsolete | | MONDO:0016626 | Orphanet:248305 | MONDO:equivalentObsolete | | MONDO:0016697 | Orphanet:251633 | MONDO:equivalentObsolete | | MONDO:0016795 | Orphanet:254793 | MONDO:equivalentObsolete | @@ -308,7 +285,6 @@ | MONDO:0017046 | Orphanet:2677 | MONDO:equivalentObsolete | | MONDO:0017106 | Orphanet:269200 | MONDO:equivalentObsolete | | MONDO:0017126 | Orphanet:2716 | MONDO:equivalentObsolete | -| MONDO:0017179 | Orphanet:276402 | MONDO:equivalentObsolete | | MONDO:0017191 | Orphanet:276624 | MONDO:equivalentObsolete | | MONDO:0017192 | Orphanet:276627 | MONDO:equivalentObsolete | | MONDO:0017236 | Orphanet:280569 | MONDO:equivalentObsolete | @@ -407,31 +383,18 @@ | MONDO:0017562 | Orphanet:295234 | MONDO:equivalentObsolete | | MONDO:0017563 | Orphanet:295237 | MONDO:equivalentObsolete | | MONDO:0017616 | Orphanet:3062 | MONDO:equivalentObsolete | -| MONDO:0017618 | Orphanet:306436 | MONDO:equivalentObsolete | -| MONDO:0017619 | Orphanet:306446 | MONDO:equivalentObsolete | -| MONDO:0017620 | Orphanet:306462 | MONDO:equivalentObsolete | -| MONDO:0017621 | Orphanet:306474 | MONDO:equivalentObsolete | -| MONDO:0017622 | Orphanet:306486 | MONDO:equivalentObsolete | -| MONDO:0017625 | Orphanet:306519 | MONDO:equivalentObsolete | -| MONDO:0017626 | Orphanet:306522 | MONDO:equivalentObsolete | | MONDO:0017642 | Orphanet:3067 | MONDO:equivalentObsolete | | MONDO:0017655 | Orphanet:306762 | MONDO:equivalentObsolete | | MONDO:0017770 | Orphanet:3105 | MONDO:equivalentObsolete | | MONDO:0017832 | Orphanet:314946 | MONDO:equivalentObsolete | | MONDO:0017887 | Orphanet:319314 | MONDO:equivalentObsolete | | MONDO:0017984 | Orphanet:3267 | MONDO:equivalentObsolete | -| MONDO:0017995 | Orphanet:329252 | MONDO:equivalentObsolete | | MONDO:0017996 | Orphanet:329255 | MONDO:equivalentObsolete | -| MONDO:0018003 | Orphanet:329341 | MONDO:equivalentObsolete | -| MONDO:0018046 | Orphanet:3323 | MONDO:equivalentObsolete | | MONDO:0018070 | Orphanet:338 | MONDO:equivalentObsolete | -| MONDO:0018100 | Orphanet:34526 | MONDO:equivalentObsolete | -| MONDO:0018101 | Orphanet:34527 | MONDO:equivalentObsolete | | MONDO:0018104 | Orphanet:3460 | MONDO:equivalentObsolete | | MONDO:0018107 | Orphanet:35061 | MONDO:equivalentObsolete | | MONDO:0018110 | Orphanet:35064 | MONDO:equivalentObsolete | | MONDO:0018111 | Orphanet:35065 | MONDO:equivalentObsolete | -| MONDO:0018113 | Orphanet:35098 | MONDO:equivalentObsolete | | MONDO:0018122 | Orphanet:352487 | MONDO:equivalentObsolete | | MONDO:0018138 | Orphanet:352740 | MONDO:equivalentObsolete | | MONDO:0018154 | Orphanet:35688 | MONDO:equivalentObsolete | @@ -446,14 +409,12 @@ | MONDO:0018708 | Orphanet:457252 | MONDO:equivalentObsolete | | MONDO:0018722 | Orphanet:458841 | MONDO:equivalentObsolete | | MONDO:0018962 | Orphanet:620 | MONDO:equivalentObsolete | -| MONDO:0018971 | Orphanet:63440 | MONDO:equivalentObsolete | | MONDO:0018989 | Orphanet:64740 | MONDO:equivalentObsolete | | MONDO:0019103 | Orphanet:71269 | MONDO:equivalentObsolete | | MONDO:0019116 | Orphanet:717 | MONDO:equivalentObsolete | | MONDO:0019172 | Orphanet:77 | MONDO:equivalentObsolete | | MONDO:0019206 | Orphanet:79132 | MONDO:equivalentObsolete | | MONDO:0019297 | Orphanet:79383 | MONDO:equivalentObsolete | -| MONDO:0019317 | Orphanet:79459 | MONDO:equivalentObsolete | | MONDO:0019348 | Orphanet:82004 | MONDO:equivalentObsolete | | MONDO:0019389 | Orphanet:83648 | MONDO:equivalentObsolete | | MONDO:0019397 | Orphanet:84096 | MONDO:equivalentObsolete | @@ -462,9 +423,7 @@ | MONDO:0019417 | Orphanet:85318 | MONDO:equivalentObsolete | | MONDO:0019426 | Orphanet:85330 | MONDO:equivalentObsolete | | MONDO:0019520 | Orphanet:89832 | MONDO:equivalentObsolete | -| MONDO:0019521 | Orphanet:89841 | MONDO:equivalentObsolete | | MONDO:0019563 | Orphanet:90290 | MONDO:equivalentObsolete | -| MONDO:0019603 | Orphanet:91133 | MONDO:equivalentObsolete | | MONDO:0019649 | Orphanet:93206 | MONDO:equivalentObsolete | | MONDO:0019650 | Orphanet:93207 | MONDO:equivalentObsolete | | MONDO:0019651 | Orphanet:93209 | MONDO:equivalentObsolete | @@ -485,20 +444,17 @@ | MONDO:0019774 | Orphanet:93970 | MONDO:equivalentObsolete | | MONDO:0019776 | Orphanet:93972 | MONDO:equivalentObsolete | | MONDO:0019779 | Orphanet:93975 | MONDO:equivalentObsolete | -| MONDO:0019796 | Orphanet:946 | MONDO:equivalentObsolete | | MONDO:0019809 | Orphanet:95449 | MONDO:equivalentObsolete | | MONDO:0019821 | Orphanet:95484 | MONDO:equivalentObsolete | | MONDO:0019826 | Orphanet:95493 | MONDO:equivalentObsolete | | MONDO:0019847 | Orphanet:95701 | MONDO:equivalentObsolete | | MONDO:0019894 | Orphanet:96136 | MONDO:equivalentObsolete | | MONDO:0019899 | Orphanet:96152 | MONDO:equivalentObsolete | -| MONDO:0019901 | Orphanet:96164 | MONDO:equivalentObsolete | | MONDO:0019940 | Orphanet:966 | MONDO:equivalentObsolete | | MONDO:0019946 | Orphanet:97231 | MONDO:equivalentObsolete | | MONDO:0019986 | Orphanet:97555 | MONDO:equivalentObsolete | | MONDO:0019987 | Orphanet:97556 | MONDO:equivalentObsolete | | MONDO:0019995 | Orphanet:97927 | MONDO:equivalentObsolete | -| MONDO:0020068 | Orphanet:98253 | MONDO:equivalentObsolete | | MONDO:0020092 | Orphanet:98345 | MONDO:equivalentObsolete | | MONDO:0020119 | Orphanet:98464 | MONDO:equivalentObsolete | | MONDO:0020134 | Orphanet:98520 | MONDO:equivalentObsolete | @@ -551,7 +507,6 @@ | MONDO:0020242 | Orphanet:98664 | MONDO:equivalentObsolete | | MONDO:0020243 | Orphanet:98665 | MONDO:equivalentObsolete | | MONDO:0020244 | Orphanet:98666 | MONDO:equivalentObsolete | -| MONDO:0020245 | Orphanet:98667 | MONDO:equivalentObsolete | | MONDO:0020247 | Orphanet:98669 | MONDO:equivalentObsolete | | MONDO:0020252 | Orphanet:98682 | MONDO:equivalentObsolete | | MONDO:0020259 | Orphanet:98689 | MONDO:equivalentObsolete | @@ -579,7 +534,6 @@ | MONDO:0020353 | Orphanet:98941 | MONDO:equivalentObsolete | | MONDO:0020384 | Orphanet:99022 | MONDO:equivalentObsolete | | MONDO:0020406 | Orphanet:99066 | MONDO:equivalentObsolete | -| MONDO:0020409 | Orphanet:99069 | MONDO:equivalentObsolete | | MONDO:0020421 | Orphanet:99085 | MONDO:equivalentObsolete | | MONDO:0020422 | Orphanet:99086 | MONDO:equivalentObsolete | | MONDO:0020424 | Orphanet:99088 | MONDO:equivalentObsolete | @@ -621,5 +575,5 @@ | MONDO:0044683 | Orphanet:498700 | MONDO:equivalentObsolete | | MONDO:0100076 | Orphanet:459696 | MONDO:equivalentObsolete | | MONDO:0100161 | Orphanet:89939 | MONDO:equivalentObsolete | -| MONDO:0100343 | Orphanet:93604 | MONDO:equivalentObsolete | +| MONDO:0100300 | Orphanet:464293 | MONDO:equivalentObsolete | | MONDO:0100428 | Orphanet:56965 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index d1b68bd0..bce14838 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -1,12 +1,12 @@ # Mapping progress report -| Ontology | Tot terms | Tot excluded | Tot deprecated | Tot mappable _(!excluded, !deprecated)_ | Tot mapped _(mappable)_ | Tot unmapped _(mappable)_ | % unmapped _(mappable)_ | -|:-----------------------------------|:------------|:---------------|:-----------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| -| [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | -| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 80,395 | 1,160 | 79,235 | 98.6% | -| [NCIT](./unmapped_ncit.md) | 174,300 | 148,488 | 5,055 | 20,757 | 6,790 | 13,967 | 67.3% | -| [OMIM](./unmapped_omim.md) | 28,750 | 18,958 | 1,353 | 8,439 | 8,105 | 334 | 4.0% | -| [ORDO](./unmapped_ordo.md) | 10,866 | 1,718 | 1,418 | 9,148 | 8,935 | 213 | 2.3% | -| [DOID](./unmapped_doid.md) | 13,689 | 2,626 | 2,473 | 11,062 | 9,725 | 1,337 | 12.1% | +| Ontology | Tot terms | Tot excluded | Tot deprecated | Tot deprecated unmapped | Tot mappable _(!excluded, !deprecated)_ | Tot mapped _(mappable)_ | Tot unmapped _(mappable)_ | % unmapped _(mappable)_ | +|:-----------------------------------|:------------|:---------------|:-----------------|:--------------------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| +| [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | +| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% | +| [DOID](./unmapped_doid.md) | 13,689 | 2,626 | 2,473 | 2,447 | 11,062 | 10,287 | 775 | 7.0% | +| [NCIT](./unmapped_ncit.md) | 174,300 | 148,488 | 5,055 | 5,022 | 20,757 | 7,033 | 13,724 | 66.1% | +| [OMIM](./unmapped_omim.md) | 28,750 | 18,958 | 1,353 | 1,306 | 8,439 | 8,214 | 225 | 2.7% | +| [ORDO](./unmapped_ordo.md) | 10,866 | 1,718 | 1,418 | 844 | 9,148 | 8,999 | 149 | 1.6% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 4c066ad3..cc3c15b4 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -1,1341 +1,779 @@ ## DOID ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:------------------------------------------------------------------------------------------------------------------------------| -| DOID:0112248 | 17-beta hydroxysteroid dehydrogenase 3 deficiency | -| DOID:0081133 | 3-methylglutaconic aciduria type 7a | -| DOID:0081134 | 3-methylglutaconic aciduria type 7b | -| DOID:0111761 | 46,XX sex reversal 1 | -| DOID:0080943 | 46,XX sex reversal 5 | -| DOID:0080926 | 7q11.23 duplication syndrome | -| DOID:0081069 | A53 diffuse large B-cell lymphoma | -| DOID:0111622 | ACTH-independent macronodular adrenal hyperplasia | -| DOID:0080952 | AMED syndrome | -| DOID:0111860 | AMME complex | -| DOID:0111824 | Aarskog syndrome | -| DOID:0111826 | Abruzzo-Erickson syndrome | -| DOID:0081289 | Antley-Bixler syndrome | -| DOID:0081290 | Antley-Bixler syndrome without disordered steroidogenesis | -| DOID:0111964 | B cell and dendritic cell deficiency | -| DOID:0080638 | B-cell acute lymphoblastic leukemia | -| DOID:0081041 | B-cell prolymphocytic leukemia | -| DOID:0080644 | B-lymphoblastic leukemia/lymphoma MLL rearranged | -| DOID:0080643 | B-lymphoblastic leukemia/lymphoma with BCR-ABL1 | -| DOID:0080645 | B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 | -| DOID:0080648 | B-lymphoblastic leukemia/lymphoma with IL3-IGH | -| DOID:0080646 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | -| DOID:0080647 | B-lymphoblastic leukemia/lymphoma with hypodiploidy | -| DOID:0080651 | B-lymphoblastic leukemia/lymphoma with iAMP21 | -| DOID:0080650 | B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like | -| DOID:0080725 | BASAN syndrome | -| DOID:0112225 | BH4-deficient hyperphenylalaninemia B | -| DOID:0081130 | BH4-deficient hyperphenylalaninemia C | -| DOID:0081131 | BH4-deficient hyperphenylalaninemia D | -| DOID:0081064 | BN2 diffuse large B-cell lymphoma | -| DOID:0080893 | Bainbridge-Ropers syndrome | -| DOID:0081112 | Baraitser-Winter syndrome 1 | -| DOID:0081113 | Baraitser-Winter syndrome 2 | -| DOID:0081009 | Bardet-Biedl syndrome 20 | -| DOID:0081010 | Bardet-Biedl syndrome 21 | -| DOID:0081011 | Bardet-Biedl syndrome 22 | -| DOID:60002 | Bartholin's gland disease | -| DOID:0111838 | Basilicata-Akhtar syndrome | -| DOID:0112226 | Bosch-Boonstra-Schaaf optic atrophy syndrome | -| DOID:0080785 | Brown-Vialetto-Van Laere syndrome 1 | -| DOID:0080786 | Brown-Vialetto-Van Laere syndrome 2 | -| DOID:0080695 | Burn-McKeown syndrome | -| DOID:0111822 | CHILD syndrome | -| DOID:0112152 | CHIME syndrome | -| DOID:0081250 | CIC-rearranged sarcoma | -| DOID:0111898 | CK syndrome | -| DOID:0080906 | CNS neuroblastoma with FOXR2 activation | -| DOID:0070343 | CSF1R-related brain malformation and osteopetrosis | -| DOID:0081122 | Catel Manzke syndrome | -| DOID:0080907 | Cockayne syndrome A | -| DOID:0080908 | Cockayne syndrome B | -| DOID:0112371 | Coffin-Siris syndrome 10 | -| DOID:0112372 | Coffin-Siris syndrome 11 | -| DOID:0112370 | Coffin-Siris syndrome 12 | -| DOID:0112368 | Coffin-Siris syndrome 5 | -| DOID:0112369 | Coffin-Siris syndrome 7 | -| DOID:0112367 | Coffin-Siris syndrome 8 | -| DOID:0081000 | Cowden syndrome 4 | -| DOID:0081001 | Cowden syndrome 5 | -| DOID:0081002 | Cowden syndrome 6 | -| DOID:0081003 | Cowden syndrome 7 | -| DOID:0081063 | DICER1 syndrome | -| DOID:0112158 | De Sanctis-Cacchione syndrome | -| DOID:0081126 | DeSanto-Shinawi syndrome | -| DOID:0111895 | Diamond-Blackfan anemia 1 | -| DOID:0111888 | Diamond-Blackfan anemia 10 | -| DOID:0111892 | Diamond-Blackfan anemia 11 | -| DOID:0111882 | Diamond-Blackfan anemia 12 | -| DOID:0111889 | Diamond-Blackfan anemia 13 | -| DOID:0111897 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | -| DOID:0111894 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | -| DOID:0111893 | Diamond-Blackfan anemia 16 | -| DOID:0111880 | Diamond-Blackfan anemia 17 | -| DOID:0111896 | Diamond-Blackfan anemia 18 | -| DOID:0111886 | Diamond-Blackfan anemia 19 | -| DOID:0111885 | Diamond-Blackfan anemia 2 | -| DOID:0111891 | Diamond-Blackfan anemia 20 | -| DOID:0111890 | Diamond-Blackfan anemia 4 | -| DOID:0111883 | Diamond-Blackfan anemia 5 | -| DOID:0111879 | Diamond-Blackfan anemia 6 | -| DOID:0111878 | Diamond-Blackfan anemia 7 | -| DOID:0111881 | Diamond-Blackfan anemia 8 | -| DOID:0111884 | Diamond-Blackfan anemia 9 | -| DOID:0111887 | Diamond-blackfan anemia 3 | -| DOID:0081249 | EWSR1-negative small round cell tumor | -| DOID:0081065 | EZB diffuse large B-cell lymphoma | -| DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma | -| DOID:0081071 | EZB-MYC- diffuse large B-cell lymphoma | -| DOID:0080727 | Ehlers-Danlos syndrome arthrochalasia type 1 | -| DOID:0080728 | Ehlers-Danlos syndrome arthrochalasia type 2 | -| DOID:0080730 | Ehlers-Danlos syndrome cardiac valvular type | -| DOID:0080726 | Ehlers-Danlos syndrome classic type 2 | -| DOID:0080731 | Ehlers-Danlos syndrome classic-like 1 | -| DOID:0080732 | Ehlers-Danlos syndrome classic-like 2 | -| DOID:0080733 | Ehlers-Danlos syndrome dermatosparaxis type | -| DOID:0080734 | Ehlers-Danlos syndrome kyphoscoliotic type 1 | -| DOID:0080735 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | -| DOID:0080736 | Ehlers-Danlos syndrome musculocontractural type 1 | -| DOID:0080737 | Ehlers-Danlos syndrome musculocontractural type 2 | -| DOID:0080986 | Ehlers-Danlos syndrome periodontal type 1 | -| DOID:0080987 | Ehlers-Danlos syndrome periodontal type 2 | -| DOID:0080738 | Ehlers-Danlos syndrome spondylodysplastic type 1 | -| DOID:0080739 | Ehlers-Danlos syndrome spondylodysplastic type 3 | -| DOID:0080757 | Fanconi renotubular syndrome 1 | -| DOID:0080758 | Fanconi renotubular syndrome 2 | -| DOID:0080759 | Fanconi renotubular syndrome 3 | -| DOID:0080760 | Fanconi renotubular syndrome 4 | -| DOID:0080761 | Fanconi renotubular syndrome 5 | -| DOID:0112194 | Filippi syndrome | -| DOID:0111180 | French Canadian Leigh disease | -| DOID:0111218 | Friedreich ataxia 1 | -| DOID:0112249 | GAPO syndrome | -| DOID:0080718 | GNE myopathy | -| DOID:0112250 | Gaucher's disease type IIIC | -| DOID:0112251 | Ghosal hematodiaphyseal syndrome | -| DOID:0081120 | Graves ophthalmopathy | -| DOID:0081168 | HMG-CoA synthase 2 deficiency | -| DOID:0112127 | HRPT-related hyperuricemia | -| DOID:11166 | Human papillomavirus infectious disease | -| DOID:0080875 | IDH-mutant anaplastic astrocytoma | -| DOID:0080882 | IDH-mutant and 1p/19q-codeleted oligodendroglioma | -| DOID:0080876 | IDH-wildtype anaplastic astrocytoma | -| DOID:0080878 | IDH-wildtype glioblastoma | -| DOID:0080851 | IgA pemphigus | -| DOID:0112383 | KINSSHIP syndrome | -| DOID:0112319 | Kanzaki disease | -| DOID:0111842 | Keipert syndrome | -| DOID:0080724 | Kenny-Caffey syndrome | -| DOID:0080722 | Kenny-Caffey syndrome type 1 | -| DOID:0080723 | Kenny-Caffey syndrome type 2 | -| DOID:0080990 | King Denborough syndrome | -| DOID:0080597 | Kleefstra syndrome | -| DOID:0081169 | Leber congenital amaurosis 19 | -| DOID:0112240 | Leber congenital amaurosis with early-onset deafness | -| DOID:0112259 | Leydig cell hypoplasia | -| DOID:0112260 | Leydig cell hypoplasia type I | -| DOID:0112261 | Leydig cell hypoplasia type II | -| DOID:0080740 | Libman-Sacks endocarditis | -| DOID:0081066 | MCD diffuse large B-cell lymphoma | -| DOID:0111865 | MEND syndrome | -| DOID:0111875 | MLS syndrome | -| DOID:0112306 | Mahvash Disease | -| DOID:0081075 | Marsili syndrome | -| DOID:0112177 | Mayer-Rokitansky-Kuster-Hauser syndrome | -| DOID:0112178 | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 | -| DOID:0112179 | Mayer-Rokitansky-Kuster-Hauser syndrome type 2 | -| DOID:0112107 | McLeod syndrome | -| DOID:0080670 | Meesmann corneal dystrophy 1 | -| DOID:0080671 | Meesmann corneal dystrophy 2 | -| DOID:0111861 | Meester-Loeys syndrome | -| DOID:0111845 | Mullegama-Klein-Martinez syndrome | -| DOID:0112258 | N-acetylglutamate synthase deficiency | -| DOID:0081067 | N1 diffuse large B-cell lymphoma | -| DOID:0080709 | NK cell deficiency | -| DOID:0050192 | Nipah virus encephalitis | -| DOID:0112169 | Noonan syndrome 11 | -| DOID:0112170 | Noonan syndrome 12 | -| DOID:0112161 | Noonan syndrome 13 | -| DOID:0080691 | Noonan syndrome-like disorder with loose anagen hair | -| DOID:0080692 | Noonan syndrome-like disorder with loose anagen hair 1 | -| DOID:0080693 | Noonan syndrome-like disorder with loose anagen hair 2 | -| DOID:0080697 | Opitz GBBB syndrome | -| DOID:0111843 | Paganini-Miozzo syndrome | -| DOID:0080855 | Parkinsonism | -| DOID:0080690 | RASopathy | -| DOID:0080892 | RELA fusion-positive ependymoma | -| DOID:0081007 | RNASET2-deficient cystic leukoencephalopathy | -| DOID:0081097 | Rafiq syndrome | -| DOID:0112060 | Raynaud-Claes syndrome | -| DOID:0112120 | SHOX-related short stature | -| DOID:0081068 | ST2 diffuse large B-cell lymphoma | -| DOID:0111874 | Sabinas brittle hair syndrome | -| DOID:0081272 | Sandestig-Stefanova syndrome | -| DOID:0111715 | Schaaf-Yang syndrome | -| DOID:0112317 | Schindler disease | -| DOID:0112318 | Schindler disease type 1 | -| DOID:0112320 | Schindler disease type 3 | -| DOID:0112181 | Schinzel type phocomelia | -| DOID:0111841 | Shukla-Vernon syndrome | -| DOID:0081273 | Siddiqi syndrome | -| DOID:0081270 | Smith-McCort dysplasia 1 | -| DOID:0081271 | Smith-McCort dysplasia 2 | -| DOID:0112103 | Sotos syndrome 1 | -| DOID:0112102 | Sotos syndrome 2 | -| DOID:0112104 | Sotos syndrome 3 | -| DOID:0080676 | Stickler syndrome 1 | -| DOID:0080675 | Stickler syndrome 2 | -| DOID:0112126 | Stocco Dos Santos type X-linked intellectual disability | -| DOID:0080746 | Sweet syndrome | -| DOID:0080710 | T cell and NK cell immunodeficiency | -| DOID:0111965 | T cell, B cell, and NK cell deficiency | -| DOID:0081312 | T-cell non-Hodgkin lymphoma | -| DOID:0081042 | T-cell prolymphocytic leukemia | -| DOID:0080817 | T2-high asthma | -| DOID:0080818 | T2-low asthma | -| DOID:0080835 | TORCH syndrome | -| DOID:0112339 | Tatton-Brown-Rahman syndrome | -| DOID:0081073 | Teebi hypertelorism syndrome | -| DOID:0080698 | Teebi hypertelorism syndrome 1 | -| DOID:0081074 | Teebi hypertelorism syndrome 2 | -| DOID:0112042 | Tonne-Kalscheuer syndrome | -| DOID:0080789 | Treacher Collins syndrome 1 | -| DOID:0080790 | Treacher Collins syndrome 2 | -| DOID:0080791 | Treacher Collins syndrome 3 | -| DOID:0080792 | Treacher Collins syndrome 4 | -| DOID:0081021 | Tukel syndrome | -| DOID:0112148 | Uruguay faciocardiomusculoskeletal syndrome | -| DOID:0080828 | VEXAS syndrome | -| DOID:0111840 | Van Esch-O'Driscoll syndrome | -| DOID:0080696 | Winchester syndrome | -| DOID:0112264 | Woodhouse-Sakati syndrome | -| DOID:0112063 | X-Linked immunodeficiency 74 | -| DOID:0112157 | X-linked atrophic macular degeneration | -| DOID:0081059 | X-linked central diabetes insipidus | -| DOID:0111828 | X-linked cerebellar ataxia | -| DOID:0080681 | X-linked chronic idiopathic intestinal pseudo-obstruction | -| DOID:0111863 | X-linked congenital bilateral absence of vas deferens | -| DOID:0111846 | X-linked congenital hemolytic anemia | -| DOID:0111737 | X-linked deafness 2 | -| DOID:0111741 | X-linked deafness 5 | -| DOID:0112156 | X-linked dyserythropoietic anemia | -| DOID:0112122 | X-linked epilepsy with variable learning disabilities and behavior disorders | -| DOID:0111388 | X-linked hypoparathyroidism | -| DOID:0111844 | X-linked intellectual developmental disorder 108 | -| DOID:0080984 | X-linked intellectual developmental disorder 109 | -| DOID:0112056 | X-linked intellectual disability-short stature-overweight syndrome | -| DOID:0080754 | X-linked keratosis follicularis spinulosa decalvans | -| DOID:0112239 | X-linked lissencephaly 1 | -| DOID:0112238 | X-linked lissencephaly 2 | -| DOID:0081123 | X-linked mental retardation Gustavson type | -| DOID:0080982 | X-linked mental retardation-hypotonic facies syndrome-1 | -| DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | -| DOID:0081060 | X-linked nephrogenic diabetes insipidus | -| DOID:0111798 | X-linked nephrolithiasis type I | -| DOID:0112105 | X-linked parkinsonism-spasticity syndrome | -| DOID:0111834 | X-linked reticulate pigmentary disorder | -| DOID:0112124 | X-linked retinitis pigmentosa and sinorespiratory infections | -| DOID:0112128 | X-linked severe congenital neutropenia | -| DOID:0112274 | X-linked spermatogenic failure 3 | -| DOID:0111827 | X-linked spinal muscular atrophy 2 | -| DOID:0111829 | X-linked spinocerebellar ataxia 1 | -| DOID:0111830 | X-linked spinocerebellar ataxia 2 | -| DOID:0111831 | X-linked spinocerebellar ataxia 3 | -| DOID:0111832 | X-linked spinocerebellar ataxia 4 | -| DOID:0111833 | X-linked spinocerebellar ataxia 5 | -| DOID:0112150 | X-linked spondyloepimetaphyseal dysplasia | -| DOID:0111899 | X-linked thrombophilia due to factor IX defect | -| DOID:0080839 | X-linked warfarin sensitivity | -| DOID:0111757 | Y-linked deafness | -| DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | -| DOID:0080945 | abdominal obesity-metabolic syndrome 4 | -| DOID:0070309 | absence epilepsy | -| DOID:0080941 | acquired angioedema | -| DOID:0080834 | acquired laryngomalacia | -| DOID:0081237 | acromesomelic dysplasia-3 | -| DOID:0081238 | acromesomelic dysplasia-4 | -| DOID:0080810 | acute asthma | -| DOID:0080795 | acute basophilic leukemia | -| DOID:0080780 | acute erythroid leukemia | -| DOID:0080947 | acute flaccid myelitis | -| DOID:0080999 | acute hemorrhagic pancreatitis | -| DOID:0080976 | acute myeloid leukemia with BCR-ABL1 | -| DOID:0081094 | acute myeloid leukemia with MLL rearrangement | -| DOID:0081090 | acute myeloid leukemia with biallelic mutation of CEBPA | -| DOID:0081084 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | -| DOID:0081083 | acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) | -| DOID:0081087 | acute myeloid leukemia with maturation | -| DOID:0081085 | acute myeloid leukemia with minimal differentiation | -| DOID:0081095 | acute myeloid leukemia with mutated CEBPA | -| DOID:0081089 | acute myeloid leukemia with mutated NPM1 | -| DOID:0081091 | acute myeloid leukemia with mutated RUNX1 | -| DOID:0081092 | acute myeloid leukemia with myelodysplasia-related changes | -| DOID:0081096 | acute myeloid leukemia with t(1;22)(p13;q13) | -| DOID:0081080 | acute myeloid leukemia with t(6;9) (p23;q34.1) | -| DOID:0081093 | acute myeloid leukemia with t(8;21); (q22; q22.1) | -| DOID:0081086 | acute myeloid leukemia without maturation | -| DOID:0081082 | acute myelomonocytic leukemia | -| DOID:0080998 | acute necrotizing pancreatitis | -| DOID:0081081 | acute promyelocytic leukemia with PML-RARA | -| DOID:0080816 | adult-onset severe asthma | -| DOID:0081136 | agammaglobulinemia 1 | -| DOID:0081142 | agammaglobulinemia 10 | -| DOID:0081135 | agammaglobulinemia 2 | -| DOID:0081137 | agammaglobulinemia 3 | -| DOID:0081138 | agammaglobulinemia 6 | -| DOID:0081139 | agammaglobulinemia 7 | -| DOID:0081140 | agammaglobulinemia 8A | -| DOID:0081143 | agammaglobulinemia 8B | -| DOID:0081141 | agammaglobulinemia 9 | -| DOID:0080948 | agenesis of corpus callosum, cardiac, ocular, and genital syndrome | -| DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | -| DOID:0080949 | alcoholic ketoacidosis | -| DOID:0112244 | alopecia, neurologic defects, and endocrinopathy syndrome | -| DOID:0080951 | alopecia-mental retardation syndrome 3 | -| DOID:0080950 | alopecia-mental retardation syndrome 4 | -| DOID:0112125 | alpha-thalassemia myelodysplasia syndrome | -| DOID:0080953 | amelogenesis imperfecta type 1J | -| DOID:0080960 | amelogenesis imperfecta type 2A6 | -| DOID:0111721 | amelogenesis imperfecta type 3 | -| DOID:0060204 | amyotrophic lateral sclerosis type 13 | -| DOID:0111246 | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | -| DOID:873 | anaerobic pneumonia | -| DOID:5889 | anaplastic ependymoma | -| DOID:7154 | anaplastic oligodendroglioma | -| DOID:0080854 | anaplastic pleomorphic xanthoastrocytoma | -| DOID:0080942 | anauxetic dysplasia | -| DOID:0080962 | anauxetic dysplasia 2 | -| DOID:0080963 | anauxetic dysplasia 3 | -| DOID:0081261 | angiocentric glioma | -| DOID:0080606 | anterior segment dysgenesis 1 | -| DOID:0080607 | anterior segment dysgenesis 2 | -| DOID:0080610 | anterior segment dysgenesis 5 | -| DOID:0080612 | anterior segment dysgenesis 7 | -| DOID:0080744 | antisynthetase syndrome | -| DOID:0080685 | aortic dissection | -| DOID:0080977 | aortic valve disease 3 | -| DOID:0080927 | apolipoprotein A-IV associated amyloidosis | -| DOID:0080959 | arrhythmogenic right ventricular dysplasia 14 | -| DOID:0080954 | arthrogryposis multiplex congenita | -| DOID:0080978 | arthrogryposis multiplex congenita-1 | -| DOID:0080979 | arthrogryposis multiplex congenita-3 | -| DOID:0080980 | arthrogryposis multiplex congenita-4 | -| DOID:0080981 | arthrogryposis multiplex congenita-5 | -| DOID:0070336 | arthrogryposis multiplex congenita-6 | -| DOID:0080822 | aspirin-induced respiratory disease | -| DOID:0080904 | astroblastoma, MN1-altered | -| DOID:0081256 | astrocytoma, IDH-mutant, grade 2 | -| DOID:0081257 | astrocytoma, IDH-mutant, grade 3 | -| DOID:0080877 | astrocytoma, IDH-mutant, grade 4 | -| DOID:0080662 | atrial standstill 1 | -| DOID:0080663 | atrial standstill 2 | -| DOID:0080756 | atrophoderma vermiculata | -| DOID:0060042 | atypical autism | -| DOID:0080619 | auditory system benign neoplasm | -| DOID:0080742 | autoimmune cholangitis | -| DOID:0080994 | autoimmune epilepsy | -| DOID:0081242 | autoimmune interstitial lung, joint, and kidney disease | -| DOID:0080767 | autoimmune myocarditis | -| DOID:0080321 | autonomic nervous system benign neoplasm | -| DOID:0080770 | autosomal dominant beta thalassemia | -| DOID:0111825 | autosomal dominant Aarskog syndrome | -| DOID:0112373 | autosomal dominant auditory neuropathy 3 | -| DOID:0080720 | autosomal dominant congenital deafness with onychodystrophy | -| DOID:0080807 | autosomal dominant craniodiaphyseal dysplasia | -| DOID:0080801 | autosomal dominant craniometaphyseal dysplasia | -| DOID:0070020 | autosomal dominant dyskeratosis congenita 4 | -| DOID:0080682 | autosomal dominant familial visceral neuropathy | -| DOID:0111269 | autosomal dominant hyaline body myopathy | -| DOID:0080755 | autosomal dominant keratosis follicularis spinulosa decalvans | -| DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | -| DOID:0112165 | autosomal dominant nonsyndromic deafness 74 | -| DOID:0112166 | autosomal dominant nonsyndromic deafness 75 | -| DOID:0112167 | autosomal dominant nonsyndromic deafness 76 | -| DOID:0112168 | autosomal dominant nonsyndromic deafness 77 | -| DOID:0112159 | autosomal dominant nonsyndromic deafness 78 | -| DOID:0112160 | autosomal dominant nonsyndromic deafness 79 | -| DOID:0112130 | autosomal dominant severe congenital neutropenia | -| DOID:0112285 | autosomal dominant spondyloepiphyseal dysplasia tarda | -| DOID:0111909 | autosomal dominant thrombophilia due to protein C deficiency | -| DOID:0111900 | autosomal dominant thrombophilia due to protein S deficiency | -| DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | -| DOID:0111797 | autosomal recessive congenital nystagmus | -| DOID:0080802 | autosomal recessive craniometaphyseal dysplasia | -| DOID:0070141 | autosomal recessive cutis laxa type II classic type | -| DOID:0081177 | autosomal recessive intellectual developmental disorder 1 | -| DOID:0081185 | autosomal recessive intellectual developmental disorder 10/20 | -| DOID:0081186 | autosomal recessive intellectual developmental disorder 11 | -| DOID:0081180 | autosomal recessive intellectual developmental disorder 12 | -| DOID:0081098 | autosomal recessive intellectual developmental disorder 13 | -| DOID:0081188 | autosomal recessive intellectual developmental disorder 14 | -| DOID:0081189 | autosomal recessive intellectual developmental disorder 16 | -| DOID:0081190 | autosomal recessive intellectual developmental disorder 18 | -| DOID:0081178 | autosomal recessive intellectual developmental disorder 2 | -| DOID:0081196 | autosomal recessive intellectual developmental disorder 23 | -| DOID:0081197 | autosomal recessive intellectual developmental disorder 24 | -| DOID:0081198 | autosomal recessive intellectual developmental disorder 25 | -| DOID:0081193 | autosomal recessive intellectual developmental disorder 27 | -| DOID:0081199 | autosomal recessive intellectual developmental disorder 28 | -| DOID:0081192 | autosomal recessive intellectual developmental disorder 29 | -| DOID:0081179 | autosomal recessive intellectual developmental disorder 3 | -| DOID:0081195 | autosomal recessive intellectual developmental disorder 30 | -| DOID:0081191 | autosomal recessive intellectual developmental disorder 31 | -| DOID:0081194 | autosomal recessive intellectual developmental disorder 33 | -| DOID:0081200 | autosomal recessive intellectual developmental disorder 34 | -| DOID:0081201 | autosomal recessive intellectual developmental disorder 35 | -| DOID:0081202 | autosomal recessive intellectual developmental disorder 37 | -| DOID:0081203 | autosomal recessive intellectual developmental disorder 38 | -| DOID:0081204 | autosomal recessive intellectual developmental disorder 39 | -| DOID:0081187 | autosomal recessive intellectual developmental disorder 4 | -| DOID:0081205 | autosomal recessive intellectual developmental disorder 40 | -| DOID:0081206 | autosomal recessive intellectual developmental disorder 41 | -| DOID:0081207 | autosomal recessive intellectual developmental disorder 43 | -| DOID:0081208 | autosomal recessive intellectual developmental disorder 44 | -| DOID:0081209 | autosomal recessive intellectual developmental disorder 45 | -| DOID:0081210 | autosomal recessive intellectual developmental disorder 46 | -| DOID:0081211 | autosomal recessive intellectual developmental disorder 47 | -| DOID:0081212 | autosomal recessive intellectual developmental disorder 48 | -| DOID:0081181 | autosomal recessive intellectual developmental disorder 5 | -| DOID:0081213 | autosomal recessive intellectual developmental disorder 50 | -| DOID:0081214 | autosomal recessive intellectual developmental disorder 51 | -| DOID:0081215 | autosomal recessive intellectual developmental disorder 52 | -| DOID:0081216 | autosomal recessive intellectual developmental disorder 54 | -| DOID:0081217 | autosomal recessive intellectual developmental disorder 56 | -| DOID:0081219 | autosomal recessive intellectual developmental disorder 57 | -| DOID:0081220 | autosomal recessive intellectual developmental disorder 58 | -| DOID:0081221 | autosomal recessive intellectual developmental disorder 59 | -| DOID:0081182 | autosomal recessive intellectual developmental disorder 6 | -| DOID:0081222 | autosomal recessive intellectual developmental disorder 60 | -| DOID:0081224 | autosomal recessive intellectual developmental disorder 63 | -| DOID:0081225 | autosomal recessive intellectual developmental disorder 64 | -| DOID:0081226 | autosomal recessive intellectual developmental disorder 65 | -| DOID:0081227 | autosomal recessive intellectual developmental disorder 66 | -| DOID:0081228 | autosomal recessive intellectual developmental disorder 67 | -| DOID:0081229 | autosomal recessive intellectual developmental disorder 68 | -| DOID:0081230 | autosomal recessive intellectual developmental disorder 69 | -| DOID:0081183 | autosomal recessive intellectual developmental disorder 7 | -| DOID:0081231 | autosomal recessive intellectual developmental disorder 70 | -| DOID:0081232 | autosomal recessive intellectual developmental disorder 71 | -| DOID:0080765 | autosomal recessive intellectual developmental disorder 72 | -| DOID:0081233 | autosomal recessive intellectual developmental disorder 73 | -| DOID:0081218 | autosomal recessive intellectual developmental disorder 74 | -| DOID:0081234 | autosomal recessive intellectual developmental disorder 75 | -| DOID:0081235 | autosomal recessive intellectual developmental disorder 76 | -| DOID:0081236 | autosomal recessive intellectual developmental disorder 77 | -| DOID:0081184 | autosomal recessive intellectual developmental disorder 9/26 | -| DOID:0080762 | autosomal recessive limb-girdle muscular dystrophy type 2Z | -| DOID:0112162 | autosomal recessive nonsyndromic deafness 116 | -| DOID:0112293 | autosomal recessive spondyloepiphyseal dysplasia tarda | -| DOID:0112291 | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type | -| DOID:0111904 | autosomal recessive thrombophilia due to protein C deficiency | -| DOID:0111905 | autosomal recessive thrombophilia due to protein S deficiency | -| DOID:0112299 | axial spondylometaphyseal dysplasia | -| DOID:0080781 | benign exocrine pancreas neoplasm | -| DOID:0081114 | benign familial infantile seizures 1 | -| DOID:0081115 | benign familial infantile seizures 2 | -| DOID:0081116 | benign familial infantile seizures 3 | -| DOID:0081117 | benign familial infantile seizures 4 | -| DOID:0081118 | benign familial infantile seizures 5 | -| DOID:0081119 | benign familial infantile seizures 6 | -| DOID:0081026 | benign peritoneal solitary fibrous tumor | -| DOID:5157 | benign pleural mesothelioma | -| DOID:0080602 | benign teratoma | -| DOID:60006 | benign vascular tumor | -| DOID:0080772 | beta-thalassemia intermedia | -| DOID:0080771 | beta-thalassemia major | -| DOID:0080921 | bilateral frontal polymicrogyria | -| DOID:0080922 | bilateral frontoparietal polymicrogyria | -| DOID:0080920 | bilateral generalized polymicrogyria | -| DOID:0080923 | bilateral parasagittal parieto-occipital polymicrogyria | -| DOID:0080924 | bilateral perisylvian polymicrogyria | -| DOID:0080901 | bladder sarcomatoid transitional cell carcinoma | -| DOID:0080902 | bladder small cell carcinoma | -| DOID:0081076 | blastic plasmacytoid dendritic cell neoplasm | -| DOID:0112313 | brain small vessel disease | -| DOID:0112314 | brain small vessel disease 2 | -| DOID:0112315 | brain small vessel disease 3 | -| DOID:0081323 | breast implant illness | -| DOID:0070333 | breast implant-associated anaplastic large cell lymphoma | -| DOID:0080729 | brittle cornea syndrome 2 | -| DOID:11650 | bronchopulmonary dysplasia | -| DOID:0080652 | calcium oxalate nephrolithiasis | -| DOID:0080721 | calvarial doughnut lesions with bone fragility | -| DOID:0080909 | castration-resistant prostate carcinoma | -| DOID:0081245 | cauda equina neuroendocrine tumor | -| DOID:0080700 | caudal regression syndrome | -| DOID:0081030 | central conducting lymphatic anomaly | -| DOID:0081055 | central diabetes insipidus | -| DOID:0080905 | central nervous system neuroblastoma | -| DOID:0081315 | central nervous system tumor with BCOR internal tandem duplication | -| DOID:0112308 | central precocious puberty | -| DOID:0112310 | central precocious puberty 1 | -| DOID:0112309 | central precocious puberty 2 | -| DOID:0111223 | centronuclear myopathy 1 | -| DOID:0111224 | centronuclear myopathy 4 | -| DOID:0081276 | cerebellar atrophy, visual impairment, and psychomotor retardation | -| DOID:0080898 | cerebellofaciodental syndrome | -| DOID:0080910 | cerebrooculofacioskeletal syndrome | -| DOID:0080911 | cerebrooculofacioskeletal syndrome 1 | -| DOID:0080912 | cerebrooculofacioskeletal syndrome 2 | -| DOID:0080913 | cerebrooculofacioskeletal syndrome 3 | -| DOID:0080914 | cerebrooculofacioskeletal syndrome 4 | -| DOID:60007 | cerebrovascular benign neoplasm | -| DOID:0080794 | childhood acute megakaryoblastic leukemia | -| DOID:0080830 | childhood low-grade glioma | -| DOID:0080956 | childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered | -| DOID:0080815 | childhood-onset asthma | -| DOID:0112224 | chondrodysplasia with joint dislocations gPAPP type | -| DOID:0112106 | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | -| DOID:0112037 | chromosome Xp11.22 duplication syndrome | -| DOID:0080809 | chronic asthma | -| DOID:0080748 | chronic inducible urticaria | -| DOID:0081088 | chronic myelogenous leukemia, BCR-ABL1 positive | -| DOID:0080749 | chronic spontaneous urticaria | -| DOID:0081291 | chronic traumatic encephalopathy | -| DOID:0080747 | chronic urticaria | -| DOID:0112253 | combined cellular and humoral immune defects with granulomas | -| DOID:0112173 | combined deficiency of vitamin K-dependent clotting factors 1 | -| DOID:0112174 | combined deficiency of vitamin K-dependent clotting factors 2 | -| DOID:0111962 | combined immunodeficiency | -| DOID:0112117 | combined oxidative phosphorylation deficiency 40 | -| DOID:0112119 | combined oxidative phosphorylation deficiency 41 | -| DOID:0112118 | combined oxidative phosphorylation deficiency 42 | -| DOID:0112116 | combined oxidative phosphorylation deficiency 43 | -| DOID:0112113 | combined oxidative phosphorylation deficiency 45 | -| DOID:0112115 | combined oxidative phosphorylation deficiency 46 | -| DOID:0112114 | combined oxidative phosphorylation deficiency 47 | -| DOID:0112112 | combined oxidative phosphorylation deficiency 48 | -| DOID:0112110 | combined oxidative phosphorylation deficiency 49 | -| DOID:0112111 | combined oxidative phosphorylation deficiency 50 | -| DOID:0112137 | combined oxidative phosphorylation deficiency 51 | -| DOID:0081144 | common variable immunodeficiency 1 | -| DOID:0081152 | common variable immunodeficiency 10 | -| DOID:0081153 | common variable immunodeficiency 11 | -| DOID:0081154 | common variable immunodeficiency 12 | -| DOID:0081155 | common variable immunodeficiency 13 | -| DOID:0081156 | common variable immunodeficiency 14 | -| DOID:0081145 | common variable immunodeficiency 2 | -| DOID:0081146 | common variable immunodeficiency 3 | -| DOID:0081147 | common variable immunodeficiency 4 | -| DOID:0081148 | common variable immunodeficiency 5 | -| DOID:0081149 | common variable immunodeficiency 6 | -| DOID:0081150 | common variable immunodeficiency 7 | -| DOID:0081151 | common variable immunodeficiency 8 | -| DOID:0080775 | complete androgen insensitivity syndrome | -| DOID:0112359 | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | -| DOID:0111862 | congenital bilateral absence of vas deferens | -| DOID:0111839 | congenital disorder of glycosylation Icc | -| DOID:0080574 | congenital disorder of glycosylation Iy | -| DOID:0081015 | congenital fibrosis of the extraocular muscles 1 | -| DOID:0081016 | congenital fibrosis of the extraocular muscles 2 | -| DOID:0081017 | congenital fibrosis of the extraocular muscles 3A | -| DOID:0081019 | congenital fibrosis of the extraocular muscles 3C | -| DOID:0081020 | congenital fibrosis of the extraocular muscles 5 | -| DOID:0112247 | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | -| DOID:0081048 | congenital limbs-face contractures-hypotonia-developmental delay syndrome | -| DOID:0112014 | congenital megabladder | -| DOID:0111836 | congenital nongoitrous hypothyroidism 7 | -| DOID:0111837 | congenital nongoitrous hypothyroidism 8 | -| DOID:0111835 | congenital nongoitrous hypothyroidism 9 | -| DOID:0111790 | congenital nystagmus 1 | -| DOID:0111792 | congenital nystagmus 2 | -| DOID:0111793 | congenital nystagmus 3 | -| DOID:0111796 | congenital nystagmus 5 | -| DOID:0111795 | congenital nystagmus 6 | -| DOID:0111791 | congenital nystagmus 7 | -| DOID:0112242 | congenital symmetric circumferential skin creases 1 | -| DOID:0112243 | congenital symmetric circumferential skin creases 2 | -| DOID:0081321 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | -| DOID:0081322 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | -| DOID:0080796 | core binding factor acute myeloid leukemia | -| DOID:0112151 | corpus callosum agenesis-abnormal genitalia syndrome | -| DOID:0080803 | cranioectodermal dysplasia 1 | -| DOID:0080804 | cranioectodermal dysplasia 2 | -| DOID:0080805 | cranioectodermal dysplasia 3 | -| DOID:0080806 | cranioectodermal dysplasia 4 | -| DOID:0081124 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | -| DOID:0081125 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | -| DOID:0081072 | craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | -| DOID:0112340 | craniotubular dysplasia Ikegawa type | -| DOID:0081012 | critical COVID-19 | -| DOID:0080925 | cytochrome P450 oxidoreductase deficiency | -| DOID:0112123 | deafness, dystonia, and cerebral hypomyelination | -| DOID:0081247 | dedifferentiated chondrosarcoma | -| DOID:0111576 | dehydrated hereditary stomatocytosis 1 | -| DOID:0080773 | delta beta-thalassemia | -| DOID:0111963 | dendritic cell deficiency | -| DOID:0081259 | desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma | -| DOID:6785 | desmoplastic small round cell tumor | -| DOID:0112202 | developmental and epileptic encephalopathy | -| DOID:0112203 | developmental and epileptic encephalopathy 67 | -| DOID:0112204 | developmental and epileptic encephalopathy 68 | -| DOID:0112205 | developmental and epileptic encephalopathy 69 | -| DOID:0112206 | developmental and epileptic encephalopathy 70 | -| DOID:0112207 | developmental and epileptic encephalopathy 71 | -| DOID:0112208 | developmental and epileptic encephalopathy 72 | -| DOID:0112209 | developmental and epileptic encephalopathy 73 | -| DOID:0112210 | developmental and epileptic encephalopathy 74 | -| DOID:0112211 | developmental and epileptic encephalopathy 75 | -| DOID:0112212 | developmental and epileptic encephalopathy 76 | -| DOID:0112213 | developmental and epileptic encephalopathy 77 | -| DOID:0112214 | developmental and epileptic encephalopathy 78 | -| DOID:0112215 | developmental and epileptic encephalopathy 79 | -| DOID:0112216 | developmental and epileptic encephalopathy 80 | -| DOID:0112217 | developmental and epileptic encephalopathy 81 | -| DOID:0080715 | developmental and epileptic encephalopathy 82 | -| DOID:0112218 | developmental and epileptic encephalopathy 83 | -| DOID:0112219 | developmental and epileptic encephalopathy 84 | -| DOID:0112220 | developmental and epileptic encephalopathy 86 | -| DOID:0112221 | developmental and epileptic encephalopathy 87 | -| DOID:0112222 | developmental and epileptic encephalopathy 88 | -| DOID:0112223 | developmental and epileptic encephalopathy 89 | -| DOID:0112275 | developmental and epileptic encephalopathy 93 | -| DOID:0081325 | developmental and epileptic encephalopathy 94 | -| DOID:0081264 | developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome | -| DOID:0080928 | dialysis-related amyloidosis | -| DOID:0080664 | diaphyseal medullary stenosis with malignant fibrous histiocytoma | -| DOID:4857 | diffuse astrocytoma | -| DOID:0081279 | diffuse astrocytoma, MYB- or MYBL1-altered | -| DOID:0080880 | diffuse glioma, H3 G34 mutant | -| DOID:0080996 | diffuse large B-cell lymphoma activated B-cell type | -| DOID:0080997 | diffuse large B-cell lymphoma germinal center B-cell type | -| DOID:0081302 | diffuse leptomeningeal glioneuronal tumor | -| DOID:0081260 | diffuse low-grade glioma, MAPK pathway–altered | -| DOID:0080684 | diffuse midline glioma, H3 K27M-mutant | -| DOID:0081277 | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | -| DOID:0080578 | digenic disease | -| DOID:0081157 | dilated cardiomyopathy 1LL | -| DOID:0081158 | dilated cardiomyopathy 1MM | -| DOID:0081159 | dilated cardiomyopathy 2C | -| DOID:0081160 | dilated cardiomyopathy 2D | -| DOID:0081161 | dilated cardiomyopathy 2E | -| DOID:0081162 | dilated cardiomyopathy 2F | -| DOID:0081163 | dilated cardiomyopathy 2G | -| DOID:0081164 | dilated cardiomyopathy 3B | -| DOID:0081058 | dipsogenic diabetes insipidus | -| DOID:0111596 | distal arthrogryposis type 1 | -| DOID:0112190 | distal arthrogryposis type 1C | -| DOID:0111605 | distal arthrogryposis type 2A | -| DOID:0111607 | distal arthrogryposis type 3 | -| DOID:0111610 | distal arthrogryposis type 4 | -| DOID:0111608 | distal arthrogryposis type 5 | -| DOID:0111609 | distal arthrogryposis type 6 | -| DOID:0111603 | distal arthrogryposis type 7 | -| DOID:0111203 | distal hereditary motor neuronopathy type 5 | -| DOID:0111189 | distal muscular dystrophy 3 | -| DOID:0111190 | distal muscular dystrophy 4 | -| DOID:0111214 | distal spinal muscular atrophy type 5 | -| DOID:0060034 | dropped head syndrome | -| DOID:0070310 | drug-induced hearing loss | -| DOID:0080769 | early-onset vitamin B6-dependent epilepsy | -| DOID:0111664 | ectodermal dysplasia 1 | -| DOID:0081077 | ectodermal dysplasia and immune deficiency | -| DOID:0081078 | ectodermal dysplasia and immunodeficiency 1 | -| DOID:0081079 | ectodermal dysplasia and immunodeficiency 2 | -| DOID:0081286 | embryonal tumor with multilayered rosettes | -| DOID:0080819 | environmental induced asthma | -| DOID:0080511 | epidermolysis bullosa simplex generalized type | -| DOID:0080373 | epididymis disease | -| DOID:0080372 | epithelioid inflammatory myofibroblastic sarcoma | -| DOID:0080750 | erythema nodosum | -| DOID:0080766 | erythrokeratodermia variabilis et progressiva 6 | -| DOID:0080916 | erythroleukemia | -| DOID:0081295 | essential tremor 6 | -| DOID:0080821 | exercise-induced bronchoconstriction | -| DOID:0081314 | extraventricular neurocytoma | -| DOID:0080811 | extrinsic asthma | -| DOID:0080944 | familial Behcet-like autoinflammatory syndrome | -| DOID:0080410 | familial adenomatous polyposis 2 | -| DOID:0080411 | familial adenomatous polyposis 3 | -| DOID:0111421 | familial apolipoprotein A5 deficiency | -| DOID:0111729 | familial episodic pain syndrome 1 | -| DOID:0111731 | familial episodic pain syndrome 3 | -| DOID:0081102 | familial gestational hyperthyroidism | -| DOID:0112183 | familial thyroid dyshormonogenesis | -| DOID:0112025 | female-restricted syndromic X-linked intellectual disability 99 | -| DOID:0081043 | fetal akinesia deformation sequence syndrome X-linked | -| DOID:0080672 | fibrochondrogenesis 1 | -| DOID:0080673 | fibrochondrogenesis 2 | -| DOID:0111708 | focal nonepidermolytic palmoplantar keratoderma | -| DOID:0111711 | focal nonepidermolytic palmoplantar keratoderma 2 | -| DOID:0111710 | focal or diffuse nonepidermolytic palmoplantar keratoderma | -| DOID:0112245 | focal segmental glomerulosclerosis 3 | -| DOID:0081044 | frontonasal dysplasia | -| DOID:0081045 | frontonasal dysplasia 1 | -| DOID:0081046 | frontonasal dysplasia 2 | -| DOID:0081047 | frontonasal dysplasia 3 | -| DOID:0080375 | gastroesophageal adenocarcinoma | -| DOID:0080374 | gastroesophageal cancer | -| DOID:0080712 | gene duplication disease | -| DOID:0081031 | generalized lymphatic anomaly | -| DOID:0080601 | germ cell benign neoplasm | -| DOID:0081057 | gestational diabetes insipidus | -| DOID:0112246 | glutaric acidemia type 3 | -| DOID:0080699 | glutathione synthetase deficiency | -| DOID:0112252 | glutathione synthetase deficiency of erythrocytes | -| DOID:0081034 | glutatione synthetase deficiency with 5-oxoprolinuria | -| DOID:0081028 | glycogen-rich carcinoma | -| DOID:0081223 | glycosylphosphatidylinositol biosynthesis defect 16 | -| DOID:0081308 | grade I lymphomatoid granulomatosis | -| DOID:0081309 | grade II lymphomatoid granulomatosis | -| DOID:0081310 | grade III lymphomatoid granulomatosis | -| DOID:0081267 | graft-versus-host disease | -| DOID:0080836 | growth hormone insensitivity syndrome with immune dysregulation 1 | -| DOID:0080837 | growth hormone insensitivity syndrome with immune dysregulation 2 | -| DOID:0112007 | growth hormone secreting pituitary adenoma 2 | -| DOID:0111901 | heparin cofactor II deficiency | -| DOID:0112254 | hepatic venoocclusive disease with immunodeficiency | -| DOID:0080355 | hepatobiliary system cancer | -| DOID:0081049 | hepatosplenic T-cell lymphoma | -| DOID:0080714 | hereditary alpha tryptasemia syndrome | -| DOID:0080939 | hereditary angioedema type I | -| DOID:0080940 | hereditary angioedema type III | -| DOID:0112172 | hereditary combined deficiency of vitamin K-dependent clotting factors | -| DOID:0111349 | hereditary desmoid disease | -| DOID:0080764 | hereditary diffuse gastric cancer | -| DOID:0070212 | hereditary lymphedema I | -| DOID:0112348 | hereditary spastic paraplegia 78 | -| DOID:0112344 | hereditary spastic paraplegia 79 | -| DOID:0112341 | hereditary spastic paraplegia 80 | -| DOID:0112349 | hereditary spastic paraplegia 81 | -| DOID:0112343 | hereditary spastic paraplegia 82 | -| DOID:0112346 | hereditary spastic paraplegia 83 | -| DOID:0112347 | hereditary spastic paraplegia 84 | -| DOID:0112345 | hereditary spastic paraplegia 85 | -| DOID:0112342 | hereditary spastic paraplegia 86 | -| DOID:0081004 | high-grade B-cell lymphoma double-hit/triple-hit | -| DOID:0081304 | high-grade astrocytoma with piloid features | -| DOID:0080915 | histiocytic sarcoma | -| DOID:0111278 | histiocytosis-lymphadenopathy plus syndrome | -| DOID:0080879 | histone mutated tumor | -| DOID:0112255 | homocystinuria-megaloblastic anemia cblE type | -| DOID:0112256 | homocystinuria-megaloblastic anemia cblG type | -| DOID:0081104 | hot water epilepsy | -| DOID:0081106 | hot water epilepsy 1 | -| DOID:0081107 | hot water epilepsy 2 | -| DOID:0080827 | human cytomegalovirus infection | -| DOID:0112257 | hydroxykynureninuria | -| DOID:0080594 | hyper IgE recurrent infection syndrome 2 | -| DOID:0111369 | hyperalphalipoproteinemia 1 | -| DOID:0112263 | hypoinsulinemic hypoglycemia with hemihypertrophy | -| DOID:0112153 | hypomyelinating leukodystrophy 20 | -| DOID:0081176 | hypotonia, ataxia, and delayed development syndrome | -| DOID:0111821 | ichthyosis follicularis-alopecia-photophobia syndrome 1 | -| DOID:0112265 | iminoglycinuria | -| DOID:0111970 | immunodeficiency 10 | -| DOID:0111957 | immunodeficiency 11A | -| DOID:0111958 | immunodeficiency 11B | -| DOID:0111988 | immunodeficiency 12 | -| DOID:0111987 | immunodeficiency 13 | -| DOID:0111936 | immunodeficiency 14 | -| DOID:0111960 | immunodeficiency 15A | -| DOID:0111959 | immunodeficiency 15B | -| DOID:0111935 | immunodeficiency 16 | -| DOID:0111973 | immunodeficiency 17 | -| DOID:0111971 | immunodeficiency 18 | -| DOID:0111972 | immunodeficiency 19 | -| DOID:0111941 | immunodeficiency 20 | -| DOID:0111947 | immunodeficiency 21 | -| DOID:0111937 | immunodeficiency 22 | -| DOID:0111953 | immunodeficiency 23 | -| DOID:0111938 | immunodeficiency 24 | -| DOID:0111942 | immunodeficiency 25 | -| DOID:0111961 | immunodeficiency 26 | -| DOID:0111955 | immunodeficiency 27A | -| DOID:0111956 | immunodeficiency 27B | -| DOID:0111995 | immunodeficiency 28 | -| DOID:0111950 | immunodeficiency 29 | -| DOID:0111990 | immunodeficiency 30 | -| DOID:0111945 | immunodeficiency 31A | -| DOID:0111944 | immunodeficiency 31B | -| DOID:0111946 | immunodeficiency 31C | -| DOID:0111986 | immunodeficiency 32A | -| DOID:0111985 | immunodeficiency 32B | -| DOID:0112003 | immunodeficiency 33 | -| DOID:0112000 | immunodeficiency 34 | -| DOID:0111989 | immunodeficiency 35 | -| DOID:0111949 | immunodeficiency 36 | -| DOID:0111939 | immunodeficiency 37 | -| DOID:0111934 | immunodeficiency 38 | -| DOID:0111969 | immunodeficiency 39 | -| DOID:0111951 | immunodeficiency 40 | -| DOID:0111968 | immunodeficiency 41 | -| DOID:0111940 | immunodeficiency 42 | -| DOID:0111981 | immunodeficiency 43 | -| DOID:0111975 | immunodeficiency 44 | -| DOID:0111994 | immunodeficiency 45 | -| DOID:0111948 | immunodeficiency 46 | -| DOID:0112002 | immunodeficiency 47 | -| DOID:0111943 | immunodeficiency 48 | -| DOID:0111979 | immunodeficiency 49 | -| DOID:0112001 | immunodeficiency 50 | -| DOID:0111996 | immunodeficiency 51 | -| DOID:0111983 | immunodeficiency 52 | -| DOID:0111992 | immunodeficiency 53 | -| DOID:0111967 | immunodeficiency 54 | -| DOID:0111993 | immunodeficiency 55 | -| DOID:0111982 | immunodeficiency 56 | -| DOID:0111952 | immunodeficiency 57 | -| DOID:0111984 | immunodeficiency 58 | -| DOID:0111974 | immunodeficiency 59 | -| DOID:0111954 | immunodeficiency 60 | -| DOID:0111999 | immunodeficiency 61 | -| DOID:0111991 | immunodeficiency 62 | -| DOID:0111997 | immunodeficiency 63 | -| DOID:0111980 | immunodeficiency 64 | -| DOID:0111978 | immunodeficiency 65 | -| DOID:0111998 | immunodeficiency 66 | -| DOID:0112006 | immunodeficiency 69 | -| DOID:0112005 | immunodeficiency 70 | -| DOID:0112004 | immunodeficiency 71 | -| DOID:0112015 | immunodeficiency 72 | -| DOID:0112064 | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | -| DOID:0112061 | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | -| DOID:0112062 | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | -| DOID:0112277 | immunodeficiency 79 | -| DOID:0111976 | immunodeficiency 9 | -| DOID:0080934 | immunoglobulin heavy chain amyloidosis | -| DOID:0080935 | immunoglobulin heavy-and-light chain | -| DOID:0080933 | immunoglobulin light chain amyloidosis | -| DOID:0081121 | inclusion body myopathy and brain white matter abnormalities | -| DOID:0081278 | infant-type hemispheric glioma | -| DOID:0080716 | infantile liver failure syndrome | -| DOID:0080717 | infantile liver failure syndrome 1 | -| DOID:0112155 | inflammatory bowel disease 29 | -| DOID:0112154 | inflammatory bowel disease 30 | -| DOID:0081239 | injection anthrax | -| DOID:0081265 | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | -| DOID:0081008 | intellectual developmental disorder with cardiac arrhythmia | -| DOID:0081262 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | -| DOID:0081301 | intellectual developmental disorder with ocular anomalies and distinctive facial features | -| DOID:0080812 | intermittent asthma | -| DOID:0080964 | intracranial berry aneurysm 1 | -| DOID:0080973 | intracranial berry aneurysm 10 | -| DOID:0080974 | intracranial berry aneurysm 11 | -| DOID:0080975 | intracranial berry aneurysm 12 | -| DOID:0080965 | intracranial berry aneurysm 2 | -| DOID:0080966 | intracranial berry aneurysm 3 | -| DOID:0080967 | intracranial berry aneurysm 4 | -| DOID:0080968 | intracranial berry aneurysm 5 | -| DOID:0080969 | intracranial berry aneurysm 6 | -| DOID:0080970 | intracranial berry aneurysm 7 | -| DOID:0080971 | intracranial berry aneurysm 8 | -| DOID:0080972 | intracranial berry aneurysm 9 | -| DOID:0080842 | intracranial meningioma | -| DOID:0081311 | intravascular large B-cell lymphoma | -| DOID:0080753 | keratosis follicularis spinulosa decalvans | -| DOID:0081105 | keratosis palmoplantaris striata | -| DOID:0081108 | keratosis palmoplantaris striata 1 | -| DOID:0081109 | keratosis palmoplantaris striata 2 | -| DOID:0081110 | keratosis palmoplantaris striata 3 | -| DOID:0080751 | keratosis pilaris atrophicans | -| DOID:0080752 | keratosis pilaris atrophicans faciei | -| DOID:0080616 | kidney cortex disease | -| DOID:0080833 | laryngomalacia | -| DOID:0080846 | latent autoimmune diabetes in adults | -| DOID:0112262 | leucine-sensitive hypoglycemia of infancy | -| DOID:0080492 | leukocyte adhesion deficiency 2 | -| DOID:0080741 | limbic encephalitis | -| DOID:0111808 | linear skin defects with multiple congenital anomalies 1 | -| DOID:0111877 | linear skin defects with multiple congenital anomalies 2 | -| DOID:0111876 | linear skin defects with multiple congenital anomalies 3 | -| DOID:0080894 | lipofibromatosis-like neural tumor | -| DOID:0112237 | lissencephaly 1 | -| DOID:0112229 | lissencephaly 10 | -| DOID:0112232 | lissencephaly 3 | -| DOID:0112235 | lissencephaly 4 | -| DOID:0112230 | lissencephaly 5 | -| DOID:0112236 | lissencephaly 6 | -| DOID:0112231 | lissencephaly 7 with cerebellar hypoplasia | -| DOID:0112233 | lissencephaly 8 | -| DOID:0112228 | lissencephaly 9 with complex brainstem malformation | -| DOID:0080848 | long COVID | -| DOID:0080829 | low grade glioma | -| DOID:0111815 | low molecular weight proteinuria with hypercalciuric nephrocalcinosis | -| DOID:0080674 | luminal breast carcinoma B | -| DOID:0080899 | lung pleomorphic carcinoma | -| DOID:0080777 | lung sarcomatoid carcinoma | -| DOID:0080618 | lymph node carcinoma | -| DOID:0081307 | lymphomatoid granulomatosis | -| DOID:0112311 | male infertility due to acephalic spermatozoa | -| DOID:0112312 | male infertility due to globozoospermia | -| DOID:0080364 | malignant adenoma | -| DOID:60004 | malignant cystadenoma | -| DOID:370 | malignant olfactory nerve neoplasm | -| DOID:0080808 | mammary analogue secretory carcinoma | -| DOID:0081127 | mandibuloacral dysplasia | -| DOID:0081128 | mandibuloacral dysplasia type A lipodystrophy | -| DOID:0081129 | mandibuloacral dysplasia type B lipodystrophy | -| DOID:0080703 | medulloblastoma SHH activated | -| DOID:0080704 | medulloblastoma SHH activated and TP53 mutant | -| DOID:0080705 | medulloblastoma SHH activated and TP53 wild-type | -| DOID:0080702 | medulloblastoma WNT activated | -| DOID:0080706 | medulloblastoma non-WNT/non-SHH | -| DOID:0080707 | medulloblastoma non-WNT/non-SHH group 3 | -| DOID:0080708 | medulloblastoma non-WNT/non-SHH group 4 | -| DOID:0070327 | melanoma in congenital melanocytic nevus | -| DOID:0112316 | methemoglobinemia and ambiguous genitalia | -| DOID:0111814 | methylmalonic acidemia and homocysteinemia cblX type | -| DOID:0081051 | microcephaly, growth deficiency, seizures, and brain malformations | -| DOID:0112234 | microlissencephaly | -| DOID:0111859 | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | -| DOID:0112182 | mismatch repair cancer syndrome | -| DOID:0070331 | mitochondrial DNA depletion syndrome 8b | -| DOID:0112100 | mitochondrial type mitochondrial complex I deficiency | -| DOID:0112101 | mitochondrial type mitochondrial complex I deficiency 1 | -| DOID:0081036 | mixed phenotype acute leukemia with BCR-ABL1 | -| DOID:0081037 | mixed phenotype acute leukemia with MLL rearranged | -| DOID:0081038 | mixed phenotype acute leukemia, B/myeloid | -| DOID:0081039 | mixed phenotype acute leukemia, T/myeloid | -| DOID:0111966 | monocyte, dendritic cell, and NK cell deficiency | -| DOID:0080688 | mosaic variegated aneuploidy syndrome | -| DOID:0080689 | mosaic variegated aneuploidy syndrome 3 | -| DOID:0080782 | mucinous pancreas adenocarcinoma | -| DOID:0080678 | mucolipidosis III gamma | -| DOID:0080991 | multiminicore disease | -| DOID:0081303 | multinodular and vacuolating neuronal tumor | -| DOID:0112241 | multiple benign circumferential skin creases on limbs | -| DOID:0080503 | multiple congenital anomalies-hypotonia-seizures syndrome | -| DOID:3125 | multiple endocrine neoplasia | -| DOID:0081317 | multiple synostoses syndrome 1 | -| DOID:0081318 | multiple synostoses syndrome 2 | -| DOID:0081319 | multiple synostoses syndrome 3 | -| DOID:0081320 | multiple synostoses syndrome 4 | -| DOID:070355 | multisystem proteinopathy | -| DOID:0112374 | muscular dystrophy-dystroglycanopathy | -| DOID:0112375 | muscular dystrophy-dystroglycanopathy type B | -| DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 | -| DOID:0112376 | muscular dystrophy-dystroglycanopathy type B15 | -| DOID:0112380 | muscular dystrophy-dystroglycanopathy type B2 | -| DOID:0112378 | muscular dystrophy-dystroglycanopathy type B3 | -| DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4 | -| DOID:0112381 | muscular dystrophy-dystroglycanopathy type C12 | -| DOID:0112382 | muscular dystrophy-dystroglycanopathy type C8 | -| DOID:0112011 | mutilating palmoplantar keratoderma with periorificial keratotic plaques | -| DOID:0080798 | myeloid leukemia associated with Down Syndrome | -| DOID:0112108 | myofibrillar myopathy 10 | -| DOID:0081285 | myxoid glioneuronal tumor | -| DOID:0080797 | nasal type extranodal NK/T-cell lymphoma | -| DOID:0080823 | near-fatal asthma | -| DOID:0070341 | neonatal-onset type II citrullinemia | -| DOID:0081061 | nephrogenic diabetes insipidus type 2 | -| DOID:0112121 | nephrogenic syndrome of inappropriate antidiuresis | -| DOID:0080615 | nephroma | -| DOID:0080390 | nephrotic syndrome type 1 | -| DOID:0112267 | nephrotic syndrome type 21 | -| DOID:0112268 | nephrotic syndrome type 22 | -| DOID:0112266 | nephrotic syndrome type 23 | -| DOID:0080380 | nephrotic syndrome type 5 | -| DOID:0081052 | neurobehavioral disorder with prenatal alcohol exposure | -| DOID:0081099 | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | -| DOID:0081275 | neurodevelopmental disorder with eye movement abnormalities and ataxia | -| DOID:0112276 | neurodevelopmental disorder with involuntary movements | -| DOID:0081263 | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | -| DOID:0081324 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | -| DOID:0081327 | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | -| DOID:0080679 | neuronal intestinal dysplasia type A | -| DOID:0080680 | neuronal intestinal dysplasia type B | -| DOID:0081294 | neuronal intranuclear inclusion disease | -| DOID:0080826 | nocturnal asthma | -| DOID:0080546 | non-alcoholic fatty liver | -| DOID:0081014 | non-severe COVID-19 | -| DOID:0112038 | non-syndromic X-linked intellectual disability 1 | -| DOID:0112040 | non-syndromic X-linked intellectual disability 100 | -| DOID:0112048 | non-syndromic X-linked intellectual disability 101 | -| DOID:0112020 | non-syndromic X-linked intellectual disability 103 | -| DOID:0112018 | non-syndromic X-linked intellectual disability 104 | -| DOID:0112036 | non-syndromic X-linked intellectual disability 105 | -| DOID:0112054 | non-syndromic X-linked intellectual disability 107 | -| DOID:0112027 | non-syndromic X-linked intellectual disability 14 | -| DOID:0112019 | non-syndromic X-linked intellectual disability 19 | -| DOID:0112016 | non-syndromic X-linked intellectual disability 2 | -| DOID:0112023 | non-syndromic X-linked intellectual disability 20 | -| DOID:0112022 | non-syndromic X-linked intellectual disability 21 | -| DOID:0112049 | non-syndromic X-linked intellectual disability 23 | -| DOID:0112051 | non-syndromic X-linked intellectual disability 30 | -| DOID:0112058 | non-syndromic X-linked intellectual disability 41 | -| DOID:0112057 | non-syndromic X-linked intellectual disability 42 | -| DOID:0112028 | non-syndromic X-linked intellectual disability 45 | -| DOID:0112055 | non-syndromic X-linked intellectual disability 46 | -| DOID:0112029 | non-syndromic X-linked intellectual disability 50 | -| DOID:0112047 | non-syndromic X-linked intellectual disability 53 | -| DOID:0112024 | non-syndromic X-linked intellectual disability 58 | -| DOID:0112050 | non-syndromic X-linked intellectual disability 63 | -| DOID:0112059 | non-syndromic X-linked intellectual disability 72 | -| DOID:0112017 | non-syndromic X-linked intellectual disability 73 | -| DOID:0112039 | non-syndromic X-linked intellectual disability 77 | -| DOID:0112033 | non-syndromic X-linked intellectual disability 81 | -| DOID:0112052 | non-syndromic X-linked intellectual disability 82 | -| DOID:0112030 | non-syndromic X-linked intellectual disability 84 | -| DOID:0112053 | non-syndromic X-linked intellectual disability 88 | -| DOID:0112031 | non-syndromic X-linked intellectual disability 89 | -| DOID:0112034 | non-syndromic X-linked intellectual disability 9 | -| DOID:0112041 | non-syndromic X-linked intellectual disability 90 | -| DOID:0112043 | non-syndromic X-linked intellectual disability 91 | -| DOID:0112032 | non-syndromic X-linked intellectual disability 92 | -| DOID:0112045 | non-syndromic X-linked intellectual disability 93 | -| DOID:0112035 | non-syndromic X-linked intellectual disability 96 | -| DOID:0112046 | non-syndromic X-linked intellectual disability 97 | -| DOID:0112044 | non-syndromic X-linked intellectual disability 98 | -| DOID:0112026 | non-syndromic X-linked intellectual disability 99 | -| DOID:0112021 | non-syndromic X-linked intellectual disability ARX-related | -| DOID:0081101 | nonautoimmune hyperthyroidism | -| DOID:0080938 | nonobstructive coronary artery disease | -| DOID:0111867 | nonphotosensitive trichothiodystrophy | -| DOID:0111868 | nonphotosensitive trichothiodystrophy 5 | -| DOID:0111872 | nonphotosensitive trichothiodystrophy 6 | -| DOID:0111870 | nonphotosensitive trichothiodystrophy 7 | -| DOID:0080661 | nonsyndromic aplasia cutis congenita | -| DOID:0080683 | nonsyndromic congenital nail disorder | -| DOID:0112065 | nuclear type mitochondrial complex I deficiency | -| DOID:0112074 | nuclear type mitochondrial complex I deficiency 1 | -| DOID:0112075 | nuclear type mitochondrial complex I deficiency 10 | -| DOID:0112089 | nuclear type mitochondrial complex I deficiency 11 | -| DOID:0112099 | nuclear type mitochondrial complex I deficiency 12 | -| DOID:0112076 | nuclear type mitochondrial complex I deficiency 13 | -| DOID:0112094 | nuclear type mitochondrial complex I deficiency 14 | -| DOID:0112077 | nuclear type mitochondrial complex I deficiency 15 | -| DOID:0112096 | nuclear type mitochondrial complex I deficiency 16 | -| DOID:0112078 | nuclear type mitochondrial complex I deficiency 17 | -| DOID:0112070 | nuclear type mitochondrial complex I deficiency 18 | -| DOID:0112085 | nuclear type mitochondrial complex I deficiency 19 | -| DOID:0112083 | nuclear type mitochondrial complex I deficiency 2 | -| DOID:0112072 | nuclear type mitochondrial complex I deficiency 20 | -| DOID:0112088 | nuclear type mitochondrial complex I deficiency 21 | -| DOID:0112069 | nuclear type mitochondrial complex I deficiency 22 | -| DOID:0112087 | nuclear type mitochondrial complex I deficiency 23 | -| DOID:0112079 | nuclear type mitochondrial complex I deficiency 24 | -| DOID:0112067 | nuclear type mitochondrial complex I deficiency 25 | -| DOID:0112086 | nuclear type mitochondrial complex I deficiency 26 | -| DOID:0112090 | nuclear type mitochondrial complex I deficiency 27 | -| DOID:0112095 | nuclear type mitochondrial complex I deficiency 28 | -| DOID:0112084 | nuclear type mitochondrial complex I deficiency 29 | -| DOID:0112093 | nuclear type mitochondrial complex I deficiency 3 | -| DOID:0112098 | nuclear type mitochondrial complex I deficiency 30 | -| DOID:0112071 | nuclear type mitochondrial complex I deficiency 31 | -| DOID:0112080 | nuclear type mitochondrial complex I deficiency 32 | -| DOID:0112097 | nuclear type mitochondrial complex I deficiency 33 | -| DOID:0112091 | nuclear type mitochondrial complex I deficiency 34 | -| DOID:0112139 | nuclear type mitochondrial complex I deficiency 35 | -| DOID:0112082 | nuclear type mitochondrial complex I deficiency 4 | -| DOID:0112068 | nuclear type mitochondrial complex I deficiency 5 | -| DOID:0112066 | nuclear type mitochondrial complex I deficiency 6 | -| DOID:0112092 | nuclear type mitochondrial complex I deficiency 7 | -| DOID:0112081 | nuclear type mitochondrial complex I deficiency 8 | -| DOID:0112073 | nuclear type mitochondrial complex I deficiency 9 | -| DOID:0111706 | oblique facial clefting 1 | -| DOID:0080820 | occupational asthma | -| DOID:0080849 | ocular motor apraxia, Cogan type | -| DOID:0081296 | oculopharyngodistal myopathy | -| DOID:0081297 | oculopharyngodistal myopathy 1 | -| DOID:0081298 | oculopharyngodistal myopathy 2 | -| DOID:0081299 | oculopharyngodistal myopathy 3 | -| DOID:0081300 | oculopharyngodistal myopathy 4 | -| DOID:0070311 | oligoasthenoteratozoospermia | -| DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | -| DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | -| DOID:0080844 | omodysplasia 1 | -| DOID:0080845 | omodysplasia 2 | -| DOID:0080840 | optic atrophy 12 | -| DOID:0080900 | oral rhabdomyosarcoma | -| DOID:0080407 | orofacial cleft 14 | -| DOID:0111848 | osteogenesis imperfecta type 18 | -| DOID:0111847 | osteogenesis imperfecta type 19 | -| DOID:0111849 | osteogenesis imperfecta type 20 | -| DOID:0112201 | osteogenesis imperfecta type 21 | -| DOID:0081111 | osteosclerotic metaphyseal dysplasia | -| DOID:0080677 | otospondylomegaepiphyseal dysplasia, autosomal dominant | -| DOID:0070355 | overactive bladder syndrome | -| DOID:0081326 | oxoglutarate dehydrogenase deficiency | -| DOID:0081266 | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | -| DOID:0111244 | palmoplantar keratoderma and congenital alopecia 1 | -| DOID:0081283 | papillary glioneuronal tumor | -| DOID:0081251 | papillary tumor of the pineal region | -| DOID:0080852 | paraneoplastic pemphigus | -| DOID:0080776 | partial androgen insensitivity syndrome | -| DOID:0080841 | pemphigoid | -| DOID:0080850 | pemphigus foliaceus | -| DOID:0080896 | pericytoma with t(7;12) | -| DOID:0081274 | peroxisome biogenesis disorder 14B | -| DOID:0081240 | peroxisome biogenesis disorder 1B | -| DOID:0081241 | peroxisome biogenesis disorder 3B | -| DOID:0080813 | persistent mild asthma | -| DOID:0080814 | persistent moderate asthma | -| DOID:0080824 | persistent severe asthma | -| DOID:0111933 | phosphoglycerate kinase 1 deficiency | -| DOID:0111873 | photosensitive trichothiodystrophy 1 | -| DOID:0111869 | photosensitive trichothiodystrophy 2 | -| DOID:0111871 | photosensitive trichothiodystrophy 3 | -| DOID:0081248 | pineocytoma | -| DOID:0081280 | pituicytoma | -| DOID:0112009 | pituitary adenoma 1 | -| DOID:0112010 | pituitary adenoma 3 | -| DOID:0112008 | pituitary adenoma 5 | -| DOID:0081244 | pituitary blastoma | -| DOID:0080779 | plasmablastic lymphoma | -| DOID:0111592 | plasminogen deficiency type I | -| DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant | -| DOID:0080577 | polygenic disease | -| DOID:0080918 | polymicrogyria | -| DOID:0081305 | polymorphous low grade neuroepithelial tumour of the young | -| DOID:0080745 | polymyositis | -| DOID:0112322 | pontocerebellar hypoplasia type 1 | -| DOID:0112324 | pontocerebellar hypoplasia type 11 | -| DOID:0112327 | pontocerebellar hypoplasia type 12 | -| DOID:0112332 | pontocerebellar hypoplasia type 13 | -| DOID:0112325 | pontocerebellar hypoplasia type 14 | -| DOID:0112326 | pontocerebellar hypoplasia type 15 | -| DOID:0112333 | pontocerebellar hypoplasia type 16 | -| DOID:0112334 | pontocerebellar hypoplasia type 1C | -| DOID:0112323 | pontocerebellar hypoplasia type 1D | -| DOID:0112330 | pontocerebellar hypoplasia type 1E | -| DOID:0112331 | pontocerebellar hypoplasia type 1F | -| DOID:0112328 | pontocerebellar hypoplasia type 2 | -| DOID:0112329 | pontocerebellar hypoplasia type 2F | -| DOID:0070306 | post-cardiac arrest syndrome | -| DOID:0080889 | posterior fossa ependymoma | -| DOID:0081254 | posterior fossa group A ependymoma | -| DOID:0081255 | posterior fossa group B ependymoma | -| DOID:0080669 | posterior polymorphous corneal dystrophy 4 | -| DOID:10993 | postinfectious encephalitis | -| DOID:0080988 | pretibial dystrophic epidermolysis bullosa | -| DOID:0070358 | primary biliary cholangitis 1 | -| DOID:0070359 | primary biliary cholangitis 2 | -| DOID:0070360 | primary biliary cholangitis 3 | -| DOID:0070361 | primary biliary cholangitis 4 | -| DOID:0070362 | primary biliary cholangitis 5 | -| DOID:0111850 | primary ciliary dyskinesia 36 | -| DOID:0111852 | primary ciliary dyskinesia 38 | -| DOID:0111854 | primary ciliary dyskinesia 39 | -| DOID:0111853 | primary ciliary dyskinesia 40 | -| DOID:0111858 | primary ciliary dyskinesia 41 | -| DOID:0111855 | primary ciliary dyskinesia 42 | -| DOID:0111856 | primary ciliary dyskinesia 43 | -| DOID:0111851 | primary ciliary dyskinesia 44 | -| DOID:0111857 | primary ciliary dyskinesia 45 | -| DOID:0112138 | primary coenzyme Q10 deficiency 9 | -| DOID:0081050 | primary cutaneous gamma-delta T-cell lymphoma | -| DOID:0081313 | primary diffuse large B-cell lymphoma of the central nervous system | -| DOID:0080957 | primary hypoalphalipoproteinemia 1 | -| DOID:0080958 | primary hypoalphalipoproteinemia 2 | -| DOID:0081316 | primary intracranial sarcoma, DICER1-mutant | -| DOID:0080930 | primary localized cutaneous amyloidosis 1 | -| DOID:0080931 | primary localized cutaneous amyloidosis 2 | -| DOID:0080932 | primary localized cutaneous amyloidosis 3 | -| DOID:0080857 | primary ovarian insufficiency 1 | -| DOID:0080867 | primary ovarian insufficiency 10 | -| DOID:0080868 | primary ovarian insufficiency 11 | -| DOID:0080869 | primary ovarian insufficiency 12 | -| DOID:0080870 | primary ovarian insufficiency 13 | -| DOID:0080871 | primary ovarian insufficiency 14 | -| DOID:0080872 | primary ovarian insufficiency 15 | -| DOID:0080873 | primary ovarian insufficiency 16 | -| DOID:0080874 | primary ovarian insufficiency 17 | -| DOID:0112269 | primary ovarian insufficiency 18 | -| DOID:0112278 | primary ovarian insufficiency 19 | -| DOID:0080858 | primary ovarian insufficiency 2A | -| DOID:0080859 | primary ovarian insufficiency 2B | -| DOID:0080860 | primary ovarian insufficiency 3 | -| DOID:0080861 | primary ovarian insufficiency 4 | -| DOID:0080862 | primary ovarian insufficiency 5 | -| DOID:0080863 | primary ovarian insufficiency 6 | -| DOID:0080864 | primary ovarian insufficiency 7 | -| DOID:0080865 | primary ovarian insufficiency 8 | -| DOID:0080866 | primary ovarian insufficiency 9 | -| DOID:0111452 | progressive myoclonus epilepsy 1A | -| DOID:0111444 | progressive myoclonus epilepsy 4 | -| DOID:0080701 | prothrombin thrombophilia | -| DOID:0080719 | proximal myopathy and ophthalmoplegia | -| DOID:0080787 | proximal symphalangism 1 | -| DOID:0080788 | proximal symphalangism 2 | -| DOID:60001 | pulmonary artery disease | -| DOID:0081268 | pulmonary venoocclusive disease 1 | -| DOID:0081269 | pulmonary venoocclusive disease 2 | -| DOID:0080768 | pyridoxine-dependent epilepsy | -| DOID:0080895 | rapidly involuting congenital hemangioma | -| DOID:0080687 | reducing body myopathy 1B | -| DOID:0081024 | retinal cone dystrophy 1 | -| DOID:0081025 | retinal cone dystrophy 3A | -| DOID:0081022 | retinal cone dystrophy 3B | -| DOID:0081023 | retinal cone dystrophy 4 | -| DOID:0080946 | retinal dystrophy with leukodystrophy | -| DOID:0112140 | retinitis pigmentosa 83 | -| DOID:0112141 | retinitis pigmentosa 84 | -| DOID:0112142 | retinitis pigmentosa 85 | -| DOID:0112143 | retinitis pigmentosa 86 | -| DOID:0112144 | retinitis pigmentosa 87 | -| DOID:0112145 | retinitis pigmentosa 88 | -| DOID:0112146 | retinitis pigmentosa 89 | -| DOID:0112147 | retinitis pigmentosa 90 | -| DOID:0080992 | rhabdomyolysis-myalgia syndrome | -| DOID:0081243 | rhizomelic chondrodysplasia punctate type 4 | -| DOID:0081284 | rosette-forming glioneuronal tumor | -| DOID:0080800 | salivary gland mucinous adenocarcinoma | -| DOID:0081293 | salivary gland mucoepidermoid carcinoma | -| DOID:0112307 | sarcosinemia | -| DOID:0080936 | serum amyloid A amyloidosis | -| DOID:0081013 | severe COVID-19 | -| DOID:0111932 | severe congenital encephalopathy due to MECP2 mutation | -| DOID:0112131 | severe congenital neutropenia 2 | -| DOID:0112133 | severe congenital neutropenia 3 | -| DOID:0112136 | severe congenital neutropenia 4 | -| DOID:0112132 | severe congenital neutropenia 5 | -| DOID:0112134 | severe congenital neutropenia 6 | -| DOID:0112129 | severe congenital neutropenia 7 | -| DOID:0112135 | severe congenital neutropenia 8 | -| DOID:0112358 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | -| DOID:0081175 | short stature, hearing loss, retinitis pigmentosa, and distinctive facies | -| DOID:0080799 | sinonasal undifferentiated carcinoma | -| DOID:0080306 | solid adenocarcinoma with mucin production | -| DOID:0080897 | solitary fibrous tumor/hemangiopericytoma | -| DOID:0081100 | spastic paraplegia with deafness | -| DOID:0111275 | speech-language disorder-1 | -| DOID:0111929 | spermatogenic failure 24 | -| DOID:0111920 | spermatogenic failure 25 | -| DOID:0111924 | spermatogenic failure 26 | -| DOID:0111928 | spermatogenic failure 27 | -| DOID:0111916 | spermatogenic failure 28 | -| DOID:0111930 | spermatogenic failure 29 | -| DOID:0111913 | spermatogenic failure 30 | -| DOID:0111922 | spermatogenic failure 31 | -| DOID:0111925 | spermatogenic failure 32 | -| DOID:0111915 | spermatogenic failure 33 | -| DOID:0111911 | spermatogenic failure 34 | -| DOID:0111914 | spermatogenic failure 35 | -| DOID:0111921 | spermatogenic failure 36 | -| DOID:0111927 | spermatogenic failure 37 | -| DOID:0111919 | spermatogenic failure 38 | -| DOID:0111926 | spermatogenic failure 39 | -| DOID:0111918 | spermatogenic failure 40 | -| DOID:0111912 | spermatogenic failure 41 | -| DOID:0111923 | spermatogenic failure 42 | -| DOID:0111917 | spermatogenic failure 43 | -| DOID:0112109 | spermatogenic failure 44 | -| DOID:0112163 | spermatogenic failure 45 | -| DOID:0112164 | spermatogenic failure 46 | -| DOID:0112175 | spermatogenic failure 47 | -| DOID:0112176 | spermatogenic failure 48 | -| DOID:0112271 | spermatogenic failure 49 | -| DOID:0112272 | spermatogenic failure 50 | -| DOID:0112273 | spermatogenic failure 51 | -| DOID:0112270 | spermatogenic failure 52 | -| DOID:0112279 | spermatogenic failure 53 | -| DOID:0112335 | spermatogenic failure 54 | -| DOID:0112337 | spermatogenic failure 55 | -| DOID:0112336 | spermatogenic failure 56 | -| DOID:0112338 | spermatogenic failure 57 | -| DOID:0112352 | spermatogenic failure 58 | -| DOID:0112357 | spermatogenic failure 59 | -| DOID:0112355 | spermatogenic failure 60 | -| DOID:0112350 | spermatogenic failure 61 | -| DOID:0112351 | spermatogenic failure 62 | -| DOID:0112356 | spermatogenic failure 63 | -| DOID:0112353 | spermatogenic failure 64 | -| DOID:0112354 | spermatogenic failure 65 | -| DOID:0080888 | spinal ependymoma, MYCN-amplified | -| DOID:0080667 | spinal muscular atrophy type 0 | -| DOID:0070348 | spinal muscular atrophy with lower extremity predominant | -| DOID:0070351 | spinal muscular atrophy with lower extremity predominant 1 | -| DOID:0070349 | spinal muscular atrophy with lower extremity predominant 2A | -| DOID:0081306 | spindle cell oncocytoma | -| DOID:0070326 | spitzoid melanoma | -| DOID:0112365 | spondylocostal dysostosis 1 | -| DOID:0112362 | spondylocostal dysostosis 2 | -| DOID:0112361 | spondylocostal dysostosis 3 | -| DOID:0112364 | spondylocostal dysostosis 4 | -| DOID:0112363 | spondylocostal dysostosis 5 | -| DOID:0112360 | spondylocostal dysostosis 6 | -| DOID:0112282 | spondyloepiphyseal dysplasia Kimberley type | -| DOID:0112283 | spondyloepiphyseal dysplasia Kondo-Fu type | -| DOID:0112288 | spondyloepiphyseal dysplasia Nishimura type | -| DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | -| DOID:0112284 | spondyloepiphyseal dysplasia tarda | -| DOID:0112289 | spondyloepiphyseal dysplasia tarda with characteristic facies | -| DOID:0112292 | spondyloepiphyseal dysplasia tarda with intellectual disability | -| DOID:0112294 | spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability | -| DOID:0112286 | spondyloepiphyseal dysplasia with punctate corneal dystrophy | -| DOID:0112290 | spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | -| DOID:0112287 | spondyloepiphyseal dysplasia-brachydactyly and distinctive speech | -| DOID:0112196 | spondylometaepiphyseal dysplasia, short limb-hand type | -| DOID:0112295 | spondylometaphyseal dysplasia | -| DOID:0112296 | spondylometaphyseal dysplasia Algerian type | -| DOID:0112302 | spondylometaphyseal dysplasia East African type | -| DOID:0112304 | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | -| DOID:0112298 | spondylometaphyseal dysplasia Sedaghatian type | -| DOID:0112297 | spondylometaphyseal dysplasia corner fracture type | -| DOID:0112301 | spondylometaphyseal dysplasia type A4 | -| DOID:0112305 | spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism | -| DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy | -| DOID:0112303 | spondylometaphyseal dysplasia with corneal dystrophy | -| DOID:0112195 | spondyloperipheral dysplasia | -| DOID:0080917 | sporatic amyotrophic lateral sclerosis | -| DOID:0080890 | supratentorial ependymoma | -| DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive | -| DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive | -| DOID:0080843 | supratentorial meningioma | -| DOID:0111816 | syndactyly type 1 | -| DOID:0111817 | syndactyly type 3 | -| DOID:0111818 | syndactyly type 4 | -| DOID:0111819 | syndactyly type 5 | -| DOID:0111813 | syndactyly type 8 | -| DOID:0111931 | syndactyly-telecanthus-anogenital and renal malformations syndrome | -| DOID:0080985 | syndromic X-linked intellectual disorder Lujan-Fryns-type | -| DOID:0111799 | syndromic microphthalmia 1 | -| DOID:0111812 | syndromic microphthalmia 10 | -| DOID:0111804 | syndromic microphthalmia 11 | -| DOID:0111800 | syndromic microphthalmia 12 | -| DOID:0111811 | syndromic microphthalmia 13 | -| DOID:0111802 | syndromic microphthalmia 14 | -| DOID:0111809 | syndromic microphthalmia 2 | -| DOID:0111801 | syndromic microphthalmia 3 | -| DOID:0111806 | syndromic microphthalmia 5 | -| DOID:0111805 | syndromic microphthalmia 6 | -| DOID:0111803 | syndromic microphthalmia 8 | -| DOID:0081246 | teratoma with somatic-type malignancy | -| DOID:0112149 | terminal osseous dysplasia | -| DOID:0080371 | testicular sex cord-stromal benign neoplasm | -| DOID:0112191 | tetraamelia syndrome | -| DOID:0112192 | tetraamelia syndrome 1 | -| DOID:0112193 | tetraamelia syndrome 2 | -| DOID:0081132 | tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia | -| DOID:0080774 | thalassemia minor | -| DOID:0111903 | thrombophilia due to HRG deficiency | -| DOID:0111902 | thrombophilia due to activated protein C resistance | -| DOID:0111906 | thrombophilia due to decreased release of PLAT | -| DOID:0111907 | thrombophilia due to thrombin defect | -| DOID:0111908 | thrombophilia due to thrombomodulin defect | -| DOID:0112185 | thyroid dyshormonogenesis 1 | -| DOID:0112186 | thyroid dyshormonogenesis 2A | -| DOID:0112187 | thyroid dyshormonogenesis 3 | -| DOID:0112188 | thyroid dyshormonogenesis 4 | -| DOID:0112184 | thyroid dyshormonogenesis 5 | -| DOID:0112189 | thyroid dyshormonogenesis 6 | -| DOID:0080641 | tongue carcinoma | -| DOID:0080778 | transient infantile liver failure | -| DOID:0080743 | transverse myelitis | -| DOID:0081292 | traumatic brain injury | -| DOID:0111866 | trichothiodystrophy | -| DOID:0080995 | tuberculous encephalopathy | -| DOID:0080686 | tubular aggregate myopathy 2 | -| DOID:0112227 | tubulinopathy | -| DOID:0080919 | unilateral focal polymicrogyria | -| DOID:0080784 | urinary tract infection | -| DOID:0112180 | urocanase deficiency | -| DOID:0080929 | variant ABeta2M amyloidosis | -| DOID:0080856 | vascular Parkinsonism | -| DOID:0080883 | vitamin D-dependent rickets | -| DOID:0080886 | vitamin D-dependent rickets type 1A | -| DOID:0080887 | vitamin D-dependent rickets type 1B | -| DOID:0080884 | vitamin D-dependent rickets type 2A | -| DOID:0080885 | vitamin D-dependent rickets type 2B | -| DOID:0080665 | warfarin resistance | -| DOID:0080666 | warfarin sensitivity | -| DOID:0081287 | white sponge nevus 1 | -| DOID:0081288 | white sponge nevus 2 | -| DOID:0080937 | wild-type amyloidosis | -| DOID:0112171 | wrinkly skin syndrome | -| DOID:0111820 | zygodactyly 1 | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:-----------------------------------------------------------------------------------------------| +| DOID:0112248 | 17-beta hydroxysteroid dehydrogenase 3 deficiency | +| DOID:0081133 | 3-methylglutaconic aciduria type 7a | +| DOID:0081134 | 3-methylglutaconic aciduria type 7b | +| DOID:0081069 | A53 diffuse large B-cell lymphoma | +| DOID:0081289 | Antley-Bixler syndrome | +| DOID:0081290 | Antley-Bixler syndrome without disordered steroidogenesis | +| DOID:0111964 | B cell and dendritic cell deficiency | +| DOID:0080725 | BASAN syndrome | +| DOID:0112225 | BH4-deficient hyperphenylalaninemia B | +| DOID:0081130 | BH4-deficient hyperphenylalaninemia C | +| DOID:0081131 | BH4-deficient hyperphenylalaninemia D | +| DOID:0081064 | BN2 diffuse large B-cell lymphoma | +| DOID:0060018 | CD3gamma deficiency | +| DOID:0081250 | CIC-rearranged sarcoma | +| DOID:0080906 | CNS neuroblastoma with FOXR2 activation | +| DOID:0081122 | Catel Manzke syndrome | +| DOID:0080907 | Cockayne syndrome A | +| DOID:0080908 | Cockayne syndrome B | +| DOID:0111894 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | +| DOID:0081249 | EWSR1-negative small round cell tumor | +| DOID:0081065 | EZB diffuse large B-cell lymphoma | +| DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma | +| DOID:0081071 | EZB-MYC- diffuse large B-cell lymphoma | +| DOID:0080727 | Ehlers-Danlos syndrome arthrochalasia type 1 | +| DOID:0080728 | Ehlers-Danlos syndrome arthrochalasia type 2 | +| DOID:0080730 | Ehlers-Danlos syndrome cardiac valvular type | +| DOID:0080726 | Ehlers-Danlos syndrome classic type 2 | +| DOID:0080731 | Ehlers-Danlos syndrome classic-like 1 | +| DOID:0080732 | Ehlers-Danlos syndrome classic-like 2 | +| DOID:0080733 | Ehlers-Danlos syndrome dermatosparaxis type | +| DOID:0080734 | Ehlers-Danlos syndrome kyphoscoliotic type 1 | +| DOID:0080735 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | +| DOID:0080736 | Ehlers-Danlos syndrome musculocontractural type 1 | +| DOID:0080737 | Ehlers-Danlos syndrome musculocontractural type 2 | +| DOID:0080986 | Ehlers-Danlos syndrome periodontal type 1 | +| DOID:0080987 | Ehlers-Danlos syndrome periodontal type 2 | +| DOID:0080738 | Ehlers-Danlos syndrome spondylodysplastic type 1 | +| DOID:0080739 | Ehlers-Danlos syndrome spondylodysplastic type 3 | +| DOID:0111180 | French Canadian Leigh disease | +| DOID:0112250 | Gaucher's disease type IIIC | +| DOID:0112127 | HRPT-related hyperuricemia | +| DOID:11166 | Human papillomavirus infectious disease | +| DOID:0080875 | IDH-mutant anaplastic astrocytoma | +| DOID:0080882 | IDH-mutant and 1p/19q-codeleted oligodendroglioma | +| DOID:0080876 | IDH-wildtype anaplastic astrocytoma | +| DOID:0080878 | IDH-wildtype glioblastoma | +| DOID:0112319 | Kanzaki disease | +| DOID:0080722 | Kenny-Caffey syndrome type 1 | +| DOID:0080723 | Kenny-Caffey syndrome type 2 | +| DOID:0080990 | King Denborough syndrome | +| DOID:0081066 | MCD diffuse large B-cell lymphoma | +| DOID:0112179 | Mayer-Rokitansky-Kuster-Hauser syndrome type 2 | +| DOID:0112107 | McLeod syndrome | +| DOID:0080670 | Meesmann corneal dystrophy 1 | +| DOID:0080671 | Meesmann corneal dystrophy 2 | +| DOID:0112258 | N-acetylglutamate synthase deficiency | +| DOID:0081067 | N1 diffuse large B-cell lymphoma | +| DOID:0050192 | Nipah virus encephalitis | +| DOID:0080697 | Opitz GBBB syndrome | +| DOID:0080855 | Parkinsonism | +| DOID:0081007 | RNASET2-deficient cystic leukoencephalopathy | +| DOID:0112060 | Raynaud-Claes syndrome | +| DOID:0081068 | ST2 diffuse large B-cell lymphoma | +| DOID:0081272 | Sandestig-Stefanova syndrome | +| DOID:0112318 | Schindler disease type 1 | +| DOID:0081273 | Siddiqi syndrome | +| DOID:0081270 | Smith-McCort dysplasia 1 | +| DOID:0081271 | Smith-McCort dysplasia 2 | +| DOID:0112102 | Sotos syndrome 2 | +| DOID:0080676 | Stickler syndrome 1 | +| DOID:0080675 | Stickler syndrome 2 | +| DOID:0112126 | Stocco Dos Santos type X-linked intellectual disability | +| DOID:0111965 | T cell, B cell, and NK cell deficiency | +| DOID:0081312 | T-cell non-Hodgkin lymphoma | +| DOID:0080817 | T2-high asthma | +| DOID:0080818 | T2-low asthma | +| DOID:0112042 | Tonne-Kalscheuer syndrome | +| DOID:0111840 | Van Esch-O'Driscoll syndrome | +| DOID:0081059 | X-linked central diabetes insipidus | +| DOID:0111863 | X-linked congenital bilateral absence of vas deferens | +| DOID:0111737 | X-linked deafness 2 | +| DOID:0111741 | X-linked deafness 5 | +| DOID:0111844 | X-linked intellectual developmental disorder 108 | +| DOID:0080984 | X-linked intellectual developmental disorder 109 | +| DOID:0080754 | X-linked keratosis follicularis spinulosa decalvans | +| DOID:0112238 | X-linked lissencephaly 2 | +| DOID:0081123 | X-linked mental retardation Gustavson type | +| DOID:0080982 | X-linked mental retardation-hypotonic facies syndrome-1 | +| DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | +| DOID:0081060 | X-linked nephrogenic diabetes insipidus | +| DOID:0111798 | X-linked nephrolithiasis type I | +| DOID:0111829 | X-linked spinocerebellar ataxia 1 | +| DOID:0111830 | X-linked spinocerebellar ataxia 2 | +| DOID:0111831 | X-linked spinocerebellar ataxia 3 | +| DOID:0111832 | X-linked spinocerebellar ataxia 4 | +| DOID:0111833 | X-linked spinocerebellar ataxia 5 | +| DOID:0080839 | X-linked warfarin sensitivity | +| DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | +| DOID:0081237 | acromesomelic dysplasia-3 | +| DOID:0081238 | acromesomelic dysplasia-4 | +| DOID:0080810 | acute asthma | +| DOID:0080999 | acute hemorrhagic pancreatitis | +| DOID:0081094 | acute myeloid leukemia with MLL rearrangement | +| DOID:0081090 | acute myeloid leukemia with biallelic mutation of CEBPA | +| DOID:0081084 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | +| DOID:0081083 | acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) | +| DOID:0081087 | acute myeloid leukemia with maturation | +| DOID:0081095 | acute myeloid leukemia with mutated CEBPA | +| DOID:0081091 | acute myeloid leukemia with mutated RUNX1 | +| DOID:0081092 | acute myeloid leukemia with myelodysplasia-related changes | +| DOID:0081096 | acute myeloid leukemia with t(1;22)(p13;q13) | +| DOID:0081080 | acute myeloid leukemia with t(6;9) (p23;q34.1) | +| DOID:0081093 | acute myeloid leukemia with t(8;21); (q22; q22.1) | +| DOID:0081086 | acute myeloid leukemia without maturation | +| DOID:0081082 | acute myelomonocytic leukemia | +| DOID:0080998 | acute necrotizing pancreatitis | +| DOID:0081081 | acute promyelocytic leukemia with PML-RARA | +| DOID:0080816 | adult-onset severe asthma | +| DOID:0081136 | agammaglobulinemia 1 | +| DOID:0081142 | agammaglobulinemia 10 | +| DOID:0081135 | agammaglobulinemia 2 | +| DOID:0081137 | agammaglobulinemia 3 | +| DOID:0081138 | agammaglobulinemia 6 | +| DOID:0081139 | agammaglobulinemia 7 | +| DOID:0081140 | agammaglobulinemia 8A | +| DOID:0081143 | agammaglobulinemia 8B | +| DOID:0081141 | agammaglobulinemia 9 | +| DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | +| DOID:0080951 | alopecia-mental retardation syndrome 3 | +| DOID:0080950 | alopecia-mental retardation syndrome 4 | +| DOID:0080953 | amelogenesis imperfecta type 1J | +| DOID:0080960 | amelogenesis imperfecta type 2A6 | +| DOID:0111721 | amelogenesis imperfecta type 3 | +| DOID:0111246 | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | +| DOID:0080854 | anaplastic pleomorphic xanthoastrocytoma | +| DOID:0080607 | anterior segment dysgenesis 2 | +| DOID:0080610 | anterior segment dysgenesis 5 | +| DOID:0080685 | aortic dissection | +| DOID:0080927 | apolipoprotein A-IV associated amyloidosis | +| DOID:0080978 | arthrogryposis multiplex congenita-1 | +| DOID:0080979 | arthrogryposis multiplex congenita-3 | +| DOID:0080980 | arthrogryposis multiplex congenita-4 | +| DOID:0080981 | arthrogryposis multiplex congenita-5 | +| DOID:0070336 | arthrogryposis multiplex congenita-6 | +| DOID:0080822 | aspirin-induced respiratory disease | +| DOID:0080904 | astroblastoma, MN1-altered | +| DOID:0081256 | astrocytoma, IDH-mutant, grade 2 | +| DOID:0081257 | astrocytoma, IDH-mutant, grade 3 | +| DOID:0080877 | astrocytoma, IDH-mutant, grade 4 | +| DOID:0080742 | autoimmune cholangitis | +| DOID:0080994 | autoimmune epilepsy | +| DOID:0081242 | autoimmune interstitial lung, joint, and kidney disease | +| DOID:0080321 | autonomic nervous system benign neoplasm | +| DOID:0080770 | autosomal dominant beta thalassemia | +| DOID:0112373 | autosomal dominant auditory neuropathy 3 | +| DOID:0080807 | autosomal dominant craniodiaphyseal dysplasia | +| DOID:0080801 | autosomal dominant craniometaphyseal dysplasia | +| DOID:0070136 | autosomal dominant cutis laxa 2 | +| DOID:0070020 | autosomal dominant dyskeratosis congenita 4 | +| DOID:0111269 | autosomal dominant hyaline body myopathy | +| DOID:0080755 | autosomal dominant keratosis follicularis spinulosa decalvans | +| DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | +| DOID:0112165 | autosomal dominant nonsyndromic deafness 74 | +| DOID:0112166 | autosomal dominant nonsyndromic deafness 75 | +| DOID:0112167 | autosomal dominant nonsyndromic deafness 76 | +| DOID:0112168 | autosomal dominant nonsyndromic deafness 77 | +| DOID:0112159 | autosomal dominant nonsyndromic deafness 78 | +| DOID:0112160 | autosomal dominant nonsyndromic deafness 79 | +| DOID:0112285 | autosomal dominant spondyloepiphyseal dysplasia tarda | +| DOID:0111909 | autosomal dominant thrombophilia due to protein C deficiency | +| DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | +| DOID:0111797 | autosomal recessive congenital nystagmus | +| DOID:0080802 | autosomal recessive craniometaphyseal dysplasia | +| DOID:0081177 | autosomal recessive intellectual developmental disorder 1 | +| DOID:0081185 | autosomal recessive intellectual developmental disorder 10/20 | +| DOID:0081186 | autosomal recessive intellectual developmental disorder 11 | +| DOID:0081180 | autosomal recessive intellectual developmental disorder 12 | +| DOID:0081098 | autosomal recessive intellectual developmental disorder 13 | +| DOID:0081188 | autosomal recessive intellectual developmental disorder 14 | +| DOID:0081189 | autosomal recessive intellectual developmental disorder 16 | +| DOID:0081190 | autosomal recessive intellectual developmental disorder 18 | +| DOID:0081178 | autosomal recessive intellectual developmental disorder 2 | +| DOID:0081196 | autosomal recessive intellectual developmental disorder 23 | +| DOID:0081197 | autosomal recessive intellectual developmental disorder 24 | +| DOID:0081198 | autosomal recessive intellectual developmental disorder 25 | +| DOID:0081193 | autosomal recessive intellectual developmental disorder 27 | +| DOID:0081199 | autosomal recessive intellectual developmental disorder 28 | +| DOID:0081192 | autosomal recessive intellectual developmental disorder 29 | +| DOID:0081179 | autosomal recessive intellectual developmental disorder 3 | +| DOID:0081195 | autosomal recessive intellectual developmental disorder 30 | +| DOID:0081191 | autosomal recessive intellectual developmental disorder 31 | +| DOID:0081194 | autosomal recessive intellectual developmental disorder 33 | +| DOID:0081200 | autosomal recessive intellectual developmental disorder 34 | +| DOID:0081201 | autosomal recessive intellectual developmental disorder 35 | +| DOID:0081202 | autosomal recessive intellectual developmental disorder 37 | +| DOID:0081203 | autosomal recessive intellectual developmental disorder 38 | +| DOID:0081204 | autosomal recessive intellectual developmental disorder 39 | +| DOID:0081187 | autosomal recessive intellectual developmental disorder 4 | +| DOID:0081205 | autosomal recessive intellectual developmental disorder 40 | +| DOID:0081206 | autosomal recessive intellectual developmental disorder 41 | +| DOID:0081207 | autosomal recessive intellectual developmental disorder 43 | +| DOID:0081208 | autosomal recessive intellectual developmental disorder 44 | +| DOID:0081209 | autosomal recessive intellectual developmental disorder 45 | +| DOID:0081210 | autosomal recessive intellectual developmental disorder 46 | +| DOID:0081211 | autosomal recessive intellectual developmental disorder 47 | +| DOID:0081212 | autosomal recessive intellectual developmental disorder 48 | +| DOID:0081181 | autosomal recessive intellectual developmental disorder 5 | +| DOID:0081213 | autosomal recessive intellectual developmental disorder 50 | +| DOID:0081214 | autosomal recessive intellectual developmental disorder 51 | +| DOID:0081215 | autosomal recessive intellectual developmental disorder 52 | +| DOID:0081216 | autosomal recessive intellectual developmental disorder 54 | +| DOID:0081217 | autosomal recessive intellectual developmental disorder 56 | +| DOID:0081219 | autosomal recessive intellectual developmental disorder 57 | +| DOID:0081220 | autosomal recessive intellectual developmental disorder 58 | +| DOID:0081221 | autosomal recessive intellectual developmental disorder 59 | +| DOID:0081182 | autosomal recessive intellectual developmental disorder 6 | +| DOID:0081222 | autosomal recessive intellectual developmental disorder 60 | +| DOID:0081224 | autosomal recessive intellectual developmental disorder 63 | +| DOID:0081225 | autosomal recessive intellectual developmental disorder 64 | +| DOID:0081226 | autosomal recessive intellectual developmental disorder 65 | +| DOID:0081227 | autosomal recessive intellectual developmental disorder 66 | +| DOID:0081228 | autosomal recessive intellectual developmental disorder 67 | +| DOID:0081229 | autosomal recessive intellectual developmental disorder 68 | +| DOID:0081230 | autosomal recessive intellectual developmental disorder 69 | +| DOID:0081183 | autosomal recessive intellectual developmental disorder 7 | +| DOID:0081231 | autosomal recessive intellectual developmental disorder 70 | +| DOID:0081232 | autosomal recessive intellectual developmental disorder 71 | +| DOID:0080765 | autosomal recessive intellectual developmental disorder 72 | +| DOID:0081233 | autosomal recessive intellectual developmental disorder 73 | +| DOID:0081218 | autosomal recessive intellectual developmental disorder 74 | +| DOID:0081234 | autosomal recessive intellectual developmental disorder 75 | +| DOID:0081235 | autosomal recessive intellectual developmental disorder 76 | +| DOID:0081236 | autosomal recessive intellectual developmental disorder 77 | +| DOID:0081184 | autosomal recessive intellectual developmental disorder 9/26 | +| DOID:0080762 | autosomal recessive limb-girdle muscular dystrophy type 2Z | +| DOID:0112162 | autosomal recessive nonsyndromic deafness 116 | +| DOID:0112293 | autosomal recessive spondyloepiphyseal dysplasia tarda | +| DOID:0112291 | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type | +| DOID:0111904 | autosomal recessive thrombophilia due to protein C deficiency | +| DOID:0081114 | benign familial infantile seizures 1 | +| DOID:0081115 | benign familial infantile seizures 2 | +| DOID:0081116 | benign familial infantile seizures 3 | +| DOID:0081117 | benign familial infantile seizures 4 | +| DOID:0081118 | benign familial infantile seizures 5 | +| DOID:0081119 | benign familial infantile seizures 6 | +| DOID:0080602 | benign teratoma | +| DOID:0112313 | brain small vessel disease | +| DOID:0112314 | brain small vessel disease 2 | +| DOID:0081323 | breast implant illness | +| DOID:11650 | bronchopulmonary dysplasia | +| DOID:0080652 | calcium oxalate nephrolithiasis | +| DOID:0080721 | calvarial doughnut lesions with bone fragility | +| DOID:0080909 | castration-resistant prostate carcinoma | +| DOID:0081245 | cauda equina neuroendocrine tumor | +| DOID:0080700 | caudal regression syndrome | +| DOID:0081030 | central conducting lymphatic anomaly | +| DOID:0081315 | central nervous system tumor with BCOR internal tandem duplication | +| DOID:0112310 | central precocious puberty 1 | +| DOID:0112309 | central precocious puberty 2 | +| DOID:0111223 | centronuclear myopathy 1 | +| DOID:0111224 | centronuclear myopathy 4 | +| DOID:0081276 | cerebellar atrophy, visual impairment, and psychomotor retardation | +| DOID:0080910 | cerebrooculofacioskeletal syndrome | +| DOID:0080794 | childhood acute megakaryoblastic leukemia | +| DOID:0080830 | childhood low-grade glioma | +| DOID:0112224 | chondrodysplasia with joint dislocations gPAPP type | +| DOID:0080809 | chronic asthma | +| DOID:0080748 | chronic inducible urticaria | +| DOID:0080749 | chronic spontaneous urticaria | +| DOID:0081291 | chronic traumatic encephalopathy | +| DOID:0080747 | chronic urticaria | +| DOID:0112253 | combined cellular and humoral immune defects with granulomas | +| DOID:0112173 | combined deficiency of vitamin K-dependent clotting factors 1 | +| DOID:0112174 | combined deficiency of vitamin K-dependent clotting factors 2 | +| DOID:0081144 | common variable immunodeficiency 1 | +| DOID:0081152 | common variable immunodeficiency 10 | +| DOID:0081153 | common variable immunodeficiency 11 | +| DOID:0081154 | common variable immunodeficiency 12 | +| DOID:0081155 | common variable immunodeficiency 13 | +| DOID:0081156 | common variable immunodeficiency 14 | +| DOID:0081145 | common variable immunodeficiency 2 | +| DOID:0081146 | common variable immunodeficiency 3 | +| DOID:0081147 | common variable immunodeficiency 4 | +| DOID:0081148 | common variable immunodeficiency 5 | +| DOID:0081149 | common variable immunodeficiency 6 | +| DOID:0081150 | common variable immunodeficiency 7 | +| DOID:0081151 | common variable immunodeficiency 8 | +| DOID:0111839 | congenital disorder of glycosylation Icc | +| DOID:0080574 | congenital disorder of glycosylation Iy | +| DOID:0081015 | congenital fibrosis of the extraocular muscles 1 | +| DOID:0081016 | congenital fibrosis of the extraocular muscles 2 | +| DOID:0081017 | congenital fibrosis of the extraocular muscles 3A | +| DOID:0081019 | congenital fibrosis of the extraocular muscles 3C | +| DOID:0081020 | congenital fibrosis of the extraocular muscles 5 | +| DOID:0112014 | congenital megabladder | +| DOID:0111836 | congenital nongoitrous hypothyroidism 7 | +| DOID:0111835 | congenital nongoitrous hypothyroidism 9 | +| DOID:0111790 | congenital nystagmus 1 | +| DOID:0111792 | congenital nystagmus 2 | +| DOID:0111793 | congenital nystagmus 3 | +| DOID:0111796 | congenital nystagmus 5 | +| DOID:0111795 | congenital nystagmus 6 | +| DOID:0111791 | congenital nystagmus 7 | +| DOID:0112242 | congenital symmetric circumferential skin creases 1 | +| DOID:0112243 | congenital symmetric circumferential skin creases 2 | +| DOID:0081321 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | +| DOID:0081322 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | +| DOID:0080796 | core binding factor acute myeloid leukemia | +| DOID:0081124 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | +| DOID:0081125 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | +| DOID:0112340 | craniotubular dysplasia Ikegawa type | +| DOID:0081012 | critical COVID-19 | +| DOID:0080925 | cytochrome P450 oxidoreductase deficiency | +| DOID:0111576 | dehydrated hereditary stomatocytosis 1 | +| DOID:0080773 | delta beta-thalassemia | +| DOID:0112203 | developmental and epileptic encephalopathy 67 | +| DOID:0112204 | developmental and epileptic encephalopathy 68 | +| DOID:0112205 | developmental and epileptic encephalopathy 69 | +| DOID:0112206 | developmental and epileptic encephalopathy 70 | +| DOID:0112207 | developmental and epileptic encephalopathy 71 | +| DOID:0112208 | developmental and epileptic encephalopathy 72 | +| DOID:0112209 | developmental and epileptic encephalopathy 73 | +| DOID:0112210 | developmental and epileptic encephalopathy 74 | +| DOID:0112211 | developmental and epileptic encephalopathy 75 | +| DOID:0112212 | developmental and epileptic encephalopathy 76 | +| DOID:0112213 | developmental and epileptic encephalopathy 77 | +| DOID:0112214 | developmental and epileptic encephalopathy 78 | +| DOID:0112215 | developmental and epileptic encephalopathy 79 | +| DOID:0112216 | developmental and epileptic encephalopathy 80 | +| DOID:0112217 | developmental and epileptic encephalopathy 81 | +| DOID:0080715 | developmental and epileptic encephalopathy 82 | +| DOID:0112218 | developmental and epileptic encephalopathy 83 | +| DOID:0112219 | developmental and epileptic encephalopathy 84 | +| DOID:0112220 | developmental and epileptic encephalopathy 86 | +| DOID:0112221 | developmental and epileptic encephalopathy 87 | +| DOID:0112222 | developmental and epileptic encephalopathy 88 | +| DOID:0112275 | developmental and epileptic encephalopathy 93 | +| DOID:0081325 | developmental and epileptic encephalopathy 94 | +| DOID:0081264 | developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome | +| DOID:0081279 | diffuse astrocytoma, MYB- or MYBL1-altered | +| DOID:0080880 | diffuse glioma, H3 G34 mutant | +| DOID:0080996 | diffuse large B-cell lymphoma activated B-cell type | +| DOID:0080997 | diffuse large B-cell lymphoma germinal center B-cell type | +| DOID:0081302 | diffuse leptomeningeal glioneuronal tumor | +| DOID:0081260 | diffuse low-grade glioma, MAPK pathway–altered | +| DOID:0080684 | diffuse midline glioma, H3 K27M-mutant | +| DOID:0081277 | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | +| DOID:0080578 | digenic disease | +| DOID:0111596 | distal arthrogryposis type 1 | +| DOID:0112190 | distal arthrogryposis type 1C | +| DOID:0111605 | distal arthrogryposis type 2A | +| DOID:0111607 | distal arthrogryposis type 3 | +| DOID:0111610 | distal arthrogryposis type 4 | +| DOID:0111609 | distal arthrogryposis type 6 | +| DOID:0111203 | distal hereditary motor neuronopathy type 5 | +| DOID:0111189 | distal muscular dystrophy 3 | +| DOID:0111190 | distal muscular dystrophy 4 | +| DOID:0111214 | distal spinal muscular atrophy type 5 | +| DOID:0060034 | dropped head syndrome | +| DOID:0070310 | drug-induced hearing loss | +| DOID:0080769 | early-onset vitamin B6-dependent epilepsy | +| DOID:0111664 | ectodermal dysplasia 1 | +| DOID:0081286 | embryonal tumor with multilayered rosettes | +| DOID:0080819 | environmental induced asthma | +| DOID:0080511 | epidermolysis bullosa simplex generalized type | +| DOID:0080372 | epithelioid inflammatory myofibroblastic sarcoma | +| DOID:0080750 | erythema nodosum | +| DOID:0080916 | erythroleukemia | +| DOID:0081295 | essential tremor 6 | +| DOID:0080821 | exercise-induced bronchoconstriction | +| DOID:0081314 | extraventricular neurocytoma | +| DOID:0080811 | extrinsic asthma | +| DOID:0111421 | familial apolipoprotein A5 deficiency | +| DOID:0111729 | familial episodic pain syndrome 1 | +| DOID:0111731 | familial episodic pain syndrome 3 | +| DOID:0112025 | female-restricted syndromic X-linked intellectual disability 99 | +| DOID:0081043 | fetal akinesia deformation sequence syndrome X-linked | +| DOID:0111708 | focal nonepidermolytic palmoplantar keratoderma | +| DOID:0111711 | focal nonepidermolytic palmoplantar keratoderma 2 | +| DOID:0112245 | focal segmental glomerulosclerosis 3 | +| DOID:0081045 | frontonasal dysplasia 1 | +| DOID:0081046 | frontonasal dysplasia 2 | +| DOID:0081047 | frontonasal dysplasia 3 | +| DOID:0080712 | gene duplication disease | +| DOID:0081031 | generalized lymphatic anomaly | +| DOID:0080601 | germ cell benign neoplasm | +| DOID:0112252 | glutathione synthetase deficiency of erythrocytes | +| DOID:0081034 | glutatione synthetase deficiency with 5-oxoprolinuria | +| DOID:0081308 | grade I lymphomatoid granulomatosis | +| DOID:0081309 | grade II lymphomatoid granulomatosis | +| DOID:0081310 | grade III lymphomatoid granulomatosis | +| DOID:0081267 | graft-versus-host disease | +| DOID:0112007 | growth hormone secreting pituitary adenoma 2 | +| DOID:3117 | hepatobiliary benign neoplasm | +| DOID:0080939 | hereditary angioedema type I | +| DOID:0080940 | hereditary angioedema type III | +| DOID:0080764 | hereditary diffuse gastric cancer | +| DOID:0070212 | hereditary lymphedema I | +| DOID:0112348 | hereditary spastic paraplegia 78 | +| DOID:0112344 | hereditary spastic paraplegia 79 | +| DOID:0112341 | hereditary spastic paraplegia 80 | +| DOID:0112343 | hereditary spastic paraplegia 82 | +| DOID:0112346 | hereditary spastic paraplegia 83 | +| DOID:0112347 | hereditary spastic paraplegia 84 | +| DOID:0112345 | hereditary spastic paraplegia 85 | +| DOID:0112342 | hereditary spastic paraplegia 86 | +| DOID:0081304 | high-grade astrocytoma with piloid features | +| DOID:0111278 | histiocytosis-lymphadenopathy plus syndrome | +| DOID:0080879 | histone mutated tumor | +| DOID:0081104 | hot water epilepsy | +| DOID:0081106 | hot water epilepsy 1 | +| DOID:0081107 | hot water epilepsy 2 | +| DOID:0080827 | human cytomegalovirus infection | +| DOID:0080594 | hyper IgE recurrent infection syndrome 2 | +| DOID:0112263 | hypoinsulinemic hypoglycemia with hemihypertrophy | +| DOID:0112153 | hypomyelinating leukodystrophy 20 | +| DOID:0111970 | immunodeficiency 10 | +| DOID:0111957 | immunodeficiency 11A | +| DOID:0111988 | immunodeficiency 12 | +| DOID:0111959 | immunodeficiency 15B | +| DOID:0111935 | immunodeficiency 16 | +| DOID:0111937 | immunodeficiency 22 | +| DOID:0111938 | immunodeficiency 24 | +| DOID:0111961 | immunodeficiency 26 | +| DOID:0111990 | immunodeficiency 30 | +| DOID:0111986 | immunodeficiency 32A | +| DOID:0112000 | immunodeficiency 34 | +| DOID:0111951 | immunodeficiency 40 | +| DOID:0111968 | immunodeficiency 41 | +| DOID:0111940 | immunodeficiency 42 | +| DOID:0111981 | immunodeficiency 43 | +| DOID:0111948 | immunodeficiency 46 | +| DOID:0111943 | immunodeficiency 48 | +| DOID:0112001 | immunodeficiency 50 | +| DOID:0111967 | immunodeficiency 54 | +| DOID:0111993 | immunodeficiency 55 | +| DOID:0111982 | immunodeficiency 56 | +| DOID:0111984 | immunodeficiency 58 | +| DOID:0111974 | immunodeficiency 59 | +| DOID:0111997 | immunodeficiency 63 | +| DOID:0112004 | immunodeficiency 71 | +| DOID:0112015 | immunodeficiency 72 | +| DOID:0111976 | immunodeficiency 9 | +| DOID:0080934 | immunoglobulin heavy chain amyloidosis | +| DOID:0080935 | immunoglobulin heavy-and-light chain | +| DOID:0080933 | immunoglobulin light chain amyloidosis | +| DOID:0081278 | infant-type hemispheric glioma | +| DOID:0080716 | infantile liver failure syndrome | +| DOID:0081239 | injection anthrax | +| DOID:0081265 | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | +| DOID:0081262 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | +| DOID:0081301 | intellectual developmental disorder with ocular anomalies and distinctive facial features | +| DOID:0080812 | intermittent asthma | +| DOID:0080964 | intracranial berry aneurysm 1 | +| DOID:0080973 | intracranial berry aneurysm 10 | +| DOID:0080974 | intracranial berry aneurysm 11 | +| DOID:0080975 | intracranial berry aneurysm 12 | +| DOID:0080965 | intracranial berry aneurysm 2 | +| DOID:0080966 | intracranial berry aneurysm 3 | +| DOID:0080967 | intracranial berry aneurysm 4 | +| DOID:0080968 | intracranial berry aneurysm 5 | +| DOID:0080969 | intracranial berry aneurysm 6 | +| DOID:0080970 | intracranial berry aneurysm 7 | +| DOID:0080971 | intracranial berry aneurysm 8 | +| DOID:0080972 | intracranial berry aneurysm 9 | +| DOID:0080842 | intracranial meningioma | +| DOID:0081311 | intravascular large B-cell lymphoma | +| DOID:0081105 | keratosis palmoplantaris striata | +| DOID:0081108 | keratosis palmoplantaris striata 1 | +| DOID:0080752 | keratosis pilaris atrophicans faciei | +| DOID:0080616 | kidney cortex disease | +| DOID:0080846 | latent autoimmune diabetes in adults | +| DOID:0080492 | leukocyte adhesion deficiency 2 | +| DOID:0080894 | lipofibromatosis-like neural tumor | +| DOID:0112230 | lissencephaly 5 | +| DOID:0112236 | lissencephaly 6 | +| DOID:0111815 | low molecular weight proteinuria with hypercalciuric nephrocalcinosis | +| DOID:0081307 | lymphomatoid granulomatosis | +| DOID:60004 | malignant cystadenoma | +| DOID:0081128 | mandibuloacral dysplasia type A lipodystrophy | +| DOID:0081129 | mandibuloacral dysplasia type B lipodystrophy | +| DOID:0080703 | medulloblastoma SHH activated | +| DOID:0080704 | medulloblastoma SHH activated and TP53 mutant | +| DOID:0080705 | medulloblastoma SHH activated and TP53 wild-type | +| DOID:0080702 | medulloblastoma WNT activated | +| DOID:0080706 | medulloblastoma non-WNT/non-SHH | +| DOID:0080707 | medulloblastoma non-WNT/non-SHH group 3 | +| DOID:0080708 | medulloblastoma non-WNT/non-SHH group 4 | +| DOID:0070331 | mitochondrial DNA depletion syndrome 8b | +| DOID:0112100 | mitochondrial type mitochondrial complex I deficiency | +| DOID:0112101 | mitochondrial type mitochondrial complex I deficiency 1 | +| DOID:0081036 | mixed phenotype acute leukemia with BCR-ABL1 | +| DOID:0081037 | mixed phenotype acute leukemia with MLL rearranged | +| DOID:0081038 | mixed phenotype acute leukemia, B/myeloid | +| DOID:0081039 | mixed phenotype acute leukemia, T/myeloid | +| DOID:0111966 | monocyte, dendritic cell, and NK cell deficiency | +| DOID:0080782 | mucinous pancreas adenocarcinoma | +| DOID:0080678 | mucolipidosis III gamma | +| DOID:0080991 | multiminicore disease | +| DOID:0081303 | multinodular and vacuolating neuronal tumor | +| DOID:0081317 | multiple synostoses syndrome 1 | +| DOID:0081318 | multiple synostoses syndrome 2 | +| DOID:0081319 | multiple synostoses syndrome 3 | +| DOID:0081320 | multiple synostoses syndrome 4 | +| DOID:070355 | multisystem proteinopathy | +| DOID:0112375 | muscular dystrophy-dystroglycanopathy type B | +| DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 | +| DOID:0112376 | muscular dystrophy-dystroglycanopathy type B15 | +| DOID:0112380 | muscular dystrophy-dystroglycanopathy type B2 | +| DOID:0112378 | muscular dystrophy-dystroglycanopathy type B3 | +| DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4 | +| DOID:0112381 | muscular dystrophy-dystroglycanopathy type C12 | +| DOID:0112382 | muscular dystrophy-dystroglycanopathy type C8 | +| DOID:0112011 | mutilating palmoplantar keratoderma with periorificial keratotic plaques | +| DOID:0080798 | myeloid leukemia associated with Down Syndrome | +| DOID:0081285 | myxoid glioneuronal tumor | +| DOID:0080823 | near-fatal asthma | +| DOID:0070341 | neonatal-onset type II citrullinemia | +| DOID:0081061 | nephrogenic diabetes insipidus type 2 | +| DOID:0081099 | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | +| DOID:0081275 | neurodevelopmental disorder with eye movement abnormalities and ataxia | +| DOID:0081263 | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | +| DOID:0081324 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | +| DOID:0081327 | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | +| DOID:0081294 | neuronal intranuclear inclusion disease | +| DOID:0080826 | nocturnal asthma | +| DOID:0080546 | non-alcoholic fatty liver | +| DOID:0081014 | non-severe COVID-19 | +| DOID:0112038 | non-syndromic X-linked intellectual disability 1 | +| DOID:0112040 | non-syndromic X-linked intellectual disability 100 | +| DOID:0112048 | non-syndromic X-linked intellectual disability 101 | +| DOID:0112020 | non-syndromic X-linked intellectual disability 103 | +| DOID:0112018 | non-syndromic X-linked intellectual disability 104 | +| DOID:0112036 | non-syndromic X-linked intellectual disability 105 | +| DOID:0112054 | non-syndromic X-linked intellectual disability 107 | +| DOID:0112027 | non-syndromic X-linked intellectual disability 14 | +| DOID:0112019 | non-syndromic X-linked intellectual disability 19 | +| DOID:0112016 | non-syndromic X-linked intellectual disability 2 | +| DOID:0112023 | non-syndromic X-linked intellectual disability 20 | +| DOID:0112022 | non-syndromic X-linked intellectual disability 21 | +| DOID:0112049 | non-syndromic X-linked intellectual disability 23 | +| DOID:0112051 | non-syndromic X-linked intellectual disability 30 | +| DOID:0112058 | non-syndromic X-linked intellectual disability 41 | +| DOID:0112057 | non-syndromic X-linked intellectual disability 42 | +| DOID:0112028 | non-syndromic X-linked intellectual disability 45 | +| DOID:0112055 | non-syndromic X-linked intellectual disability 46 | +| DOID:0112029 | non-syndromic X-linked intellectual disability 50 | +| DOID:0112047 | non-syndromic X-linked intellectual disability 53 | +| DOID:0112024 | non-syndromic X-linked intellectual disability 58 | +| DOID:0112050 | non-syndromic X-linked intellectual disability 63 | +| DOID:0112059 | non-syndromic X-linked intellectual disability 72 | +| DOID:0112017 | non-syndromic X-linked intellectual disability 73 | +| DOID:0112039 | non-syndromic X-linked intellectual disability 77 | +| DOID:0112033 | non-syndromic X-linked intellectual disability 81 | +| DOID:0112052 | non-syndromic X-linked intellectual disability 82 | +| DOID:0112030 | non-syndromic X-linked intellectual disability 84 | +| DOID:0112053 | non-syndromic X-linked intellectual disability 88 | +| DOID:0112031 | non-syndromic X-linked intellectual disability 89 | +| DOID:0112034 | non-syndromic X-linked intellectual disability 9 | +| DOID:0112041 | non-syndromic X-linked intellectual disability 90 | +| DOID:0112043 | non-syndromic X-linked intellectual disability 91 | +| DOID:0112032 | non-syndromic X-linked intellectual disability 92 | +| DOID:0112045 | non-syndromic X-linked intellectual disability 93 | +| DOID:0112035 | non-syndromic X-linked intellectual disability 96 | +| DOID:0112046 | non-syndromic X-linked intellectual disability 97 | +| DOID:0112044 | non-syndromic X-linked intellectual disability 98 | +| DOID:0112026 | non-syndromic X-linked intellectual disability 99 | +| DOID:0112021 | non-syndromic X-linked intellectual disability ARX-related | +| DOID:0111867 | nonphotosensitive trichothiodystrophy | +| DOID:0111868 | nonphotosensitive trichothiodystrophy 5 | +| DOID:0111872 | nonphotosensitive trichothiodystrophy 6 | +| DOID:0111870 | nonphotosensitive trichothiodystrophy 7 | +| DOID:0080661 | nonsyndromic aplasia cutis congenita | +| DOID:0112065 | nuclear type mitochondrial complex I deficiency | +| DOID:0112074 | nuclear type mitochondrial complex I deficiency 1 | +| DOID:0112075 | nuclear type mitochondrial complex I deficiency 10 | +| DOID:0112089 | nuclear type mitochondrial complex I deficiency 11 | +| DOID:0112099 | nuclear type mitochondrial complex I deficiency 12 | +| DOID:0112076 | nuclear type mitochondrial complex I deficiency 13 | +| DOID:0112094 | nuclear type mitochondrial complex I deficiency 14 | +| DOID:0112077 | nuclear type mitochondrial complex I deficiency 15 | +| DOID:0112096 | nuclear type mitochondrial complex I deficiency 16 | +| DOID:0112078 | nuclear type mitochondrial complex I deficiency 17 | +| DOID:0112070 | nuclear type mitochondrial complex I deficiency 18 | +| DOID:0112085 | nuclear type mitochondrial complex I deficiency 19 | +| DOID:0112083 | nuclear type mitochondrial complex I deficiency 2 | +| DOID:0112072 | nuclear type mitochondrial complex I deficiency 20 | +| DOID:0112088 | nuclear type mitochondrial complex I deficiency 21 | +| DOID:0112069 | nuclear type mitochondrial complex I deficiency 22 | +| DOID:0112087 | nuclear type mitochondrial complex I deficiency 23 | +| DOID:0112079 | nuclear type mitochondrial complex I deficiency 24 | +| DOID:0112067 | nuclear type mitochondrial complex I deficiency 25 | +| DOID:0112086 | nuclear type mitochondrial complex I deficiency 26 | +| DOID:0112090 | nuclear type mitochondrial complex I deficiency 27 | +| DOID:0112095 | nuclear type mitochondrial complex I deficiency 28 | +| DOID:0112084 | nuclear type mitochondrial complex I deficiency 29 | +| DOID:0112093 | nuclear type mitochondrial complex I deficiency 3 | +| DOID:0112098 | nuclear type mitochondrial complex I deficiency 30 | +| DOID:0112071 | nuclear type mitochondrial complex I deficiency 31 | +| DOID:0112080 | nuclear type mitochondrial complex I deficiency 32 | +| DOID:0112097 | nuclear type mitochondrial complex I deficiency 33 | +| DOID:0112091 | nuclear type mitochondrial complex I deficiency 34 | +| DOID:0112139 | nuclear type mitochondrial complex I deficiency 35 | +| DOID:0112082 | nuclear type mitochondrial complex I deficiency 4 | +| DOID:0112068 | nuclear type mitochondrial complex I deficiency 5 | +| DOID:0112066 | nuclear type mitochondrial complex I deficiency 6 | +| DOID:0112092 | nuclear type mitochondrial complex I deficiency 7 | +| DOID:0112081 | nuclear type mitochondrial complex I deficiency 8 | +| DOID:0112073 | nuclear type mitochondrial complex I deficiency 9 | +| DOID:0081296 | oculopharyngodistal myopathy | +| DOID:0081297 | oculopharyngodistal myopathy 1 | +| DOID:0081298 | oculopharyngodistal myopathy 2 | +| DOID:0081299 | oculopharyngodistal myopathy 3 | +| DOID:0081300 | oculopharyngodistal myopathy 4 | +| DOID:0070311 | oligoasthenoteratozoospermia | +| DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | +| DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | +| DOID:0080844 | omodysplasia 1 | +| DOID:0080845 | omodysplasia 2 | +| DOID:0080900 | oral rhabdomyosarcoma | +| DOID:0080407 | orofacial cleft 14 | +| DOID:0111848 | osteogenesis imperfecta type 18 | +| DOID:0111847 | osteogenesis imperfecta type 19 | +| DOID:0111849 | osteogenesis imperfecta type 20 | +| DOID:0112201 | osteogenesis imperfecta type 21 | +| DOID:0070355 | overactive bladder syndrome | +| DOID:0081326 | oxoglutarate dehydrogenase deficiency | +| DOID:0081266 | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | +| DOID:0111244 | palmoplantar keratoderma and congenital alopecia 1 | +| DOID:0081283 | papillary glioneuronal tumor | +| DOID:0080841 | pemphigoid | +| DOID:0081274 | peroxisome biogenesis disorder 14B | +| DOID:0081241 | peroxisome biogenesis disorder 3B | +| DOID:0080813 | persistent mild asthma | +| DOID:0080814 | persistent moderate asthma | +| DOID:0080824 | persistent severe asthma | +| DOID:0111933 | phosphoglycerate kinase 1 deficiency | +| DOID:0081280 | pituicytoma | +| DOID:0112009 | pituitary adenoma 1 | +| DOID:0112010 | pituitary adenoma 3 | +| DOID:0112008 | pituitary adenoma 5 | +| DOID:0081244 | pituitary blastoma | +| DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant | +| DOID:0080577 | polygenic disease | +| DOID:0081305 | polymorphous low grade neuroepithelial tumour of the young | +| DOID:0112324 | pontocerebellar hypoplasia type 11 | +| DOID:0112327 | pontocerebellar hypoplasia type 12 | +| DOID:0112332 | pontocerebellar hypoplasia type 13 | +| DOID:0112325 | pontocerebellar hypoplasia type 14 | +| DOID:0112326 | pontocerebellar hypoplasia type 15 | +| DOID:0112333 | pontocerebellar hypoplasia type 16 | +| DOID:0112334 | pontocerebellar hypoplasia type 1C | +| DOID:0112323 | pontocerebellar hypoplasia type 1D | +| DOID:0112330 | pontocerebellar hypoplasia type 1E | +| DOID:0112331 | pontocerebellar hypoplasia type 1F | +| DOID:0112329 | pontocerebellar hypoplasia type 2F | +| DOID:0080889 | posterior fossa ependymoma | +| DOID:0081254 | posterior fossa group A ependymoma | +| DOID:0081255 | posterior fossa group B ependymoma | +| DOID:0080669 | posterior polymorphous corneal dystrophy 4 | +| DOID:0111850 | primary ciliary dyskinesia 36 | +| DOID:0111852 | primary ciliary dyskinesia 38 | +| DOID:0111854 | primary ciliary dyskinesia 39 | +| DOID:0111853 | primary ciliary dyskinesia 40 | +| DOID:0111858 | primary ciliary dyskinesia 41 | +| DOID:0111855 | primary ciliary dyskinesia 42 | +| DOID:0111856 | primary ciliary dyskinesia 43 | +| DOID:0111851 | primary ciliary dyskinesia 44 | +| DOID:0111857 | primary ciliary dyskinesia 45 | +| DOID:0112138 | primary coenzyme Q10 deficiency 9 | +| DOID:0081313 | primary diffuse large B-cell lymphoma of the central nervous system | +| DOID:0081316 | primary intracranial sarcoma, DICER1-mutant | +| DOID:0080930 | primary localized cutaneous amyloidosis 1 | +| DOID:0080931 | primary localized cutaneous amyloidosis 2 | +| DOID:0080857 | primary ovarian insufficiency 1 | +| DOID:0080867 | primary ovarian insufficiency 10 | +| DOID:0080868 | primary ovarian insufficiency 11 | +| DOID:0080869 | primary ovarian insufficiency 12 | +| DOID:0080870 | primary ovarian insufficiency 13 | +| DOID:0080871 | primary ovarian insufficiency 14 | +| DOID:0080872 | primary ovarian insufficiency 15 | +| DOID:0080873 | primary ovarian insufficiency 16 | +| DOID:0080874 | primary ovarian insufficiency 17 | +| DOID:0112269 | primary ovarian insufficiency 18 | +| DOID:0112278 | primary ovarian insufficiency 19 | +| DOID:0080858 | primary ovarian insufficiency 2A | +| DOID:0080859 | primary ovarian insufficiency 2B | +| DOID:0080860 | primary ovarian insufficiency 3 | +| DOID:0080861 | primary ovarian insufficiency 4 | +| DOID:0080862 | primary ovarian insufficiency 5 | +| DOID:0080863 | primary ovarian insufficiency 6 | +| DOID:0080864 | primary ovarian insufficiency 7 | +| DOID:0080865 | primary ovarian insufficiency 8 | +| DOID:0080866 | primary ovarian insufficiency 9 | +| DOID:0111452 | progressive myoclonus epilepsy 1A | +| DOID:0111444 | progressive myoclonus epilepsy 4 | +| DOID:0080719 | proximal myopathy and ophthalmoplegia | +| DOID:0080787 | proximal symphalangism 1 | +| DOID:0080788 | proximal symphalangism 2 | +| DOID:60001 | pulmonary artery disease | +| DOID:0081268 | pulmonary venoocclusive disease 1 | +| DOID:0081269 | pulmonary venoocclusive disease 2 | +| DOID:0080687 | reducing body myopathy 1B | +| DOID:0080992 | rhabdomyolysis-myalgia syndrome | +| DOID:0081243 | rhizomelic chondrodysplasia punctate type 4 | +| DOID:0081284 | rosette-forming glioneuronal tumor | +| DOID:0081293 | salivary gland mucoepidermoid carcinoma | +| DOID:0081013 | severe COVID-19 | +| DOID:0111932 | severe congenital encephalopathy due to MECP2 mutation | +| DOID:0112131 | severe congenital neutropenia 2 | +| DOID:0112133 | severe congenital neutropenia 3 | +| DOID:0112136 | severe congenital neutropenia 4 | +| DOID:0112132 | severe congenital neutropenia 5 | +| DOID:0112134 | severe congenital neutropenia 6 | +| DOID:0112129 | severe congenital neutropenia 7 | +| DOID:0112135 | severe congenital neutropenia 8 | +| DOID:0080306 | solid adenocarcinoma with mucin production | +| DOID:0080897 | solitary fibrous tumor/hemangiopericytoma | +| DOID:0081100 | spastic paraplegia with deafness | +| DOID:0112272 | spermatogenic failure 50 | +| DOID:0111156 | spermatogenic failure 9 | +| DOID:0080667 | spinal muscular atrophy type 0 | +| DOID:0070351 | spinal muscular atrophy with lower extremity predominant 1 | +| DOID:0070349 | spinal muscular atrophy with lower extremity predominant 2A | +| DOID:0081306 | spindle cell oncocytoma | +| DOID:0112365 | spondylocostal dysostosis 1 | +| DOID:0112362 | spondylocostal dysostosis 2 | +| DOID:0112361 | spondylocostal dysostosis 3 | +| DOID:0112364 | spondylocostal dysostosis 4 | +| DOID:0112360 | spondylocostal dysostosis 6 | +| DOID:0112282 | spondyloepiphyseal dysplasia Kimberley type | +| DOID:0112283 | spondyloepiphyseal dysplasia Kondo-Fu type | +| DOID:0112288 | spondyloepiphyseal dysplasia Nishimura type | +| DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | +| DOID:0112292 | spondyloepiphyseal dysplasia tarda with intellectual disability | +| DOID:0112287 | spondyloepiphyseal dysplasia-brachydactyly and distinctive speech | +| DOID:0112196 | spondylometaepiphyseal dysplasia, short limb-hand type | +| DOID:0112296 | spondylometaphyseal dysplasia Algerian type | +| DOID:0112302 | spondylometaphyseal dysplasia East African type | +| DOID:0112304 | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | +| DOID:0112298 | spondylometaphyseal dysplasia Sedaghatian type | +| DOID:0112297 | spondylometaphyseal dysplasia corner fracture type | +| DOID:0112301 | spondylometaphyseal dysplasia type A4 | +| DOID:0112305 | spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism | +| DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy | +| DOID:0080890 | supratentorial ependymoma | +| DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive | +| DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive | +| DOID:0080843 | supratentorial meningioma | +| DOID:0080985 | syndromic X-linked intellectual disorder Lujan-Fryns-type | +| DOID:0111812 | syndromic microphthalmia 10 | +| DOID:0111804 | syndromic microphthalmia 11 | +| DOID:0111800 | syndromic microphthalmia 12 | +| DOID:0111811 | syndromic microphthalmia 13 | +| DOID:0111809 | syndromic microphthalmia 2 | +| DOID:0111806 | syndromic microphthalmia 5 | +| DOID:0111805 | syndromic microphthalmia 6 | +| DOID:0081246 | teratoma with somatic-type malignancy | +| DOID:0080371 | testicular sex cord-stromal benign neoplasm | +| DOID:0112185 | thyroid dyshormonogenesis 1 | +| DOID:0080778 | transient infantile liver failure | +| DOID:0081292 | traumatic brain injury | +| DOID:0080995 | tuberculous encephalopathy | +| DOID:0080686 | tubular aggregate myopathy 2 | +| DOID:0112180 | urocanase deficiency | +| DOID:0080856 | vascular Parkinsonism | +| DOID:0080886 | vitamin D-dependent rickets type 1A | +| DOID:0080887 | vitamin D-dependent rickets type 1B | +| DOID:0080884 | vitamin D-dependent rickets type 2A | +| DOID:0080885 | vitamin D-dependent rickets type 2B | +| DOID:0080665 | warfarin resistance | +| DOID:0080666 | warfarin sensitivity | +| DOID:0081287 | white sponge nevus 1 | +| DOID:0081288 | white sponge nevus 2 | +| DOID:0111820 | zygodactyly 1 | \ No newline at end of file diff --git a/docs/reports/unmapped_icd10cm.md b/docs/reports/unmapped_icd10cm.md index 45609eba..dfa8b54f 100644 --- a/docs/reports/unmapped_icd10cm.md +++ b/docs/reports/unmapped_icd10cm.md @@ -8437,7 +8437,6 @@ | ICD10CM:N18.31 | Chronic kidney disease, stage 3a | | ICD10CM:N18.32 | Chronic kidney disease, stage 3b | | ICD10CM:N18.4 | Chronic kidney disease, stage 4 (severe) | -| ICD10CM:N18.5 | Chronic kidney disease, stage 5 | | ICD10CM:H04.42 | Chronic lacrimal canaliculitis | | ICD10CM:H04.423 | Chronic lacrimal canaliculitis of bilateral lacrimal passages | | ICD10CM:H04.422 | Chronic lacrimal canaliculitis of left lacrimal passage | diff --git a/docs/reports/unmapped_ncit.md b/docs/reports/unmapped_ncit.md index 32dd6f29..89688474 100644 --- a/docs/reports/unmapped_ncit.md +++ b/docs/reports/unmapped_ncit.md @@ -5,20 +5,15 @@ | NCIT:C131086 | 17-Alpha-Hydroxylase/17,20 Lyase Deficiency | | NCIT:C75470 | 17q21 Microdeletion Syndrome | | NCIT:C75478 | 22q Telomere Deletion Syndrome | -| NCIT:C173146 | 3-Methylglutaconic Aciduria Type 5 | | NCIT:C127172 | 46,XX Ovotesticular Difference of Sex Development | -| NCIT:C179867 | 46,XX Sex Reversal 1 | | NCIT:C127174 | 46,XX/46,XY Ovotesticular Differences of Sex Development | | NCIT:C120194 | 46,XY Disorder of Androgen Action | | NCIT:C127173 | 46,XY Ovotesticular Differences of Sex Development | -| NCIT:C128188 | 46,XY Sex Reversal 1 | -| NCIT:C185635 | 49,XXXXY Syndrome | | NCIT:C84524 | 5' 10' Methylenetetrahydrofolate Reductase Deficiency | | NCIT:C123164 | A1 Hydronephrosis | | NCIT:C123165 | A2/3 Hydronephrosis | | NCIT:C187447 | A53 Diffuse Large B-Cell Lymphoma | | NCIT:C106273 | ABO Hemolytic Disease of the Newborn | -| NCIT:C158962 | AH Amyloidosis | | NCIT:C158964 | AHL Amyloidosis | | NCIT:C4988 | AIDS Associated Opportunistic Infection | | NCIT:C3715 | AIDS Encephalopathy | @@ -66,7 +61,6 @@ | NCIT:C9420 | AJCC Grade 2 Sarcoma | | NCIT:C9421 | AJCC Grade 3 Sarcoma | | NCIT:C9422 | AJCC Grade 4 Sarcoma | -| NCIT:C158963 | AL Amyloidosis | | NCIT:C185246 | AMeD Syndrome | | NCIT:C78597 | APL Differentiation Syndrome | | NCIT:C162770 | ASPH-Positive Head and Neck Squamous Cell Carcinoma | @@ -94,7 +88,6 @@ | NCIT:C7371 | Accessory Urethral Gland Carcinoma | | NCIT:C4378 | Accessory Urethral Gland Neoplasm | | NCIT:C124493 | Acephalostomia | -| NCIT:C168757 | Achromatopsia 2 | | NCIT:C45929 | Acidophil Stem Cell Pituitary Neuroendocrine Tumor | | NCIT:C21773 | Acinar Adenocarcinoma of the Mouse Pulmonary System | | NCIT:C63909 | Acinar Cell Adenocarcinoma of the Rat Pancreas | @@ -111,16 +104,12 @@ | NCIT:C101191 | Acquired Bilateral Cataracts | | NCIT:C98802 | Acquired Cataract | | NCIT:C120442 | Acquired Central Hypothyroidism | -| NCIT:C157718 | Acquired Cystic Disease-Associated Renal Cell Carcinoma | | NCIT:C122426 | Acquired Cytomegaloviral Infection | | NCIT:C34856 | Acquired Deformity of Nose | | NCIT:C116902 | Acquired Facial Nerve Palsy | | NCIT:C131621 | Acquired Factor I Deficiency | | NCIT:C131623 | Acquired Factor III Deficiency | | NCIT:C35440 | Acquired Factor IX Deficiency | -| NCIT:C131624 | Acquired Factor V Deficiency | -| NCIT:C131625 | Acquired Factor VII Deficiency | -| NCIT:C131627 | Acquired Factor XI Deficiency | | NCIT:C131628 | Acquired Factor XII Deficiency | | NCIT:C78299 | Acquired Feminization | | NCIT:C35227 | Acquired Hallux Valgus | @@ -145,7 +134,6 @@ | NCIT:C54659 | Acral Nevus | | NCIT:C179298 | Acromesomelic Dysplasia, PRKG2 Type | | NCIT:C35810 | Acroparesthesia Syndrome | -| NCIT:C183562 | Actinic Cheilitis | | NCIT:C34349 | Actinomycetoma | | NCIT:C27100 | Actinomycotic Cerebral Abscess | | NCIT:C7923 | Active Peptic Ulcer | @@ -725,7 +713,6 @@ | NCIT:C3851 | Aggravated Malignant Neoplasm | | NCIT:C3846 | Aggravated Neurofibromatosis | | NCIT:C8492 | Aggressive Adult Non-Hodgkin Lymphoma | -| NCIT:C178541 | Aggressive B-Cell Non-Hodgkin Lymphoma | | NCIT:C9244 | Aggressive Non-Hodgkin Lymphoma | | NCIT:C66796 | Aggressive Osteoblastoma | | NCIT:C22963 | Aggressive Osteoblastoma of the Mouse Skeletal System | @@ -735,9 +722,6 @@ | NCIT:C178547 | Aggressive T-Cell Non-Hodgkin Lymphoma | | NCIT:C171576 | Aggressive Variant Prostate Carcinoma | | NCIT:C34363 | Agoraphobia without a History of Panic Disorder | -| NCIT:C165501 | Aicardi-Goutieres Syndrome 1 | -| NCIT:C165673 | Aicardi-Goutieres Syndrome 2 | -| NCIT:C168585 | Aicardi-Goutieres Syndrome 7 | | NCIT:C50455 | Air Embolism | | NCIT:C28622 | Airway Epithelial Hyperplasia of the Mouse Pulmonary System | | NCIT:C99086 | Airway Infantile Hemangioma | @@ -901,7 +885,6 @@ | NCIT:C22943 | Angiofibroma of the Mouse Blood Vessel, NOS | | NCIT:C23082 | Angiofibroma of the Mouse Pharynx | | NCIT:C141294 | Angioimmunoblastic T-Cell Lymphoma by Ann Arbor Stage | -| NCIT:C2874 | Angiokeratoma | | NCIT:C22938 | Angiokeratoma of the Mouse Blood Vessel | | NCIT:C22031 | Angiolipoma of the Mouse Nervous System | | NCIT:C49016 | Angiomyofibroblastoma | @@ -1157,7 +1140,6 @@ | NCIT:C112209 | Anticonvulsant Hypersensitivity Syndrome | | NCIT:C123125 | Antimicrobial - Induced Nephropathy | | NCIT:C98815 | Antithrombin III Deficiency | -| NCIT:C178415 | Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis | | NCIT:C34867 | Anxiety Disorder Due to a General Medical Condition | | NCIT:C50461 | Aortic Dissection | | NCIT:C50861 | Aortic Valve Regurgitation | @@ -1199,8 +1181,6 @@ | NCIT:C43565 | Appendix Tubular Carcinoid | | NCIT:C43547 | Appendix Tubulovillous Adenoma | | NCIT:C43556 | Appendix Undifferentiated Carcinoma | -| NCIT:C180557 | Apraxia | -| NCIT:C98824 | Aprosencephaly | | NCIT:C27775 | Aromatic Dyes-Related Malignant Neoplasm | | NCIT:C178417 | Arrhythmia-Induced Cardiomyopathy | | NCIT:C165475 | Arsenical Keratosis | @@ -1257,7 +1237,6 @@ | NCIT:C155996 | Ataxia with Isolated Vitamin E Deficiency | | NCIT:C173401 | Ataxia-Oculomotor Apraxia Type 1 | | NCIT:C173403 | Ataxia-Oculomotor Apraxia Type 3 | -| NCIT:C176909 | Ataxia-Pancytopenia Syndrome | | NCIT:C2888 | Atelectasis | | NCIT:C3485 | Atonic Epilepsy | | NCIT:C34987 | Atopic Rhinitis | @@ -1303,18 +1282,13 @@ | NCIT:C98829 | Autosomal Dominant Disorder | | NCIT:C129730 | Autosomal Dominant Hypoparathyroidism | | NCIT:C129736 | Autosomal Dominant Neurohypophyseal Diabetes Insipidus | -| NCIT:C129732 | Autosomal Dominant Osteopetrosis | | NCIT:C123167 | Autosomal Dominant Polycystic Kidney Disease Type I | -| NCIT:C166155 | Autosomal Dominant Severe Congenital Neutropenia | | NCIT:C118780 | Autosomal Dominant Torsion Dystonia 1 | | NCIT:C176822 | Autosomal Recessive Agammaglobulinemia | | NCIT:C154314 | Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I | | NCIT:C85866 | Autosomal Recessive Disorder | | NCIT:C129731 | Autosomal Recessive Hypoparathyroidism | -| NCIT:C181000 | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y | | NCIT:C180849 | Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 | -| NCIT:C167215 | Autosomal Recessive Osteopetrosis 1 | -| NCIT:C176624 | Autosomal Recessive Severe Congenital Neutropenia | | NCIT:C154614 | Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | | NCIT:C177252 | Autosomal Recessive Spastic Ataxia-2 | | NCIT:C35447 | Avascular Necrosis of Femoral Head | @@ -1385,7 +1359,6 @@ | NCIT:C171267 | Bare Lymphocyte Syndrome Type 1 | | NCIT:C171268 | Bare Lymphocyte Syndrome Type 2 | | NCIT:C128241 | Bartholin Gland Hyperplasia | -| NCIT:C168990 | Bartsocas-Papas Syndrome | | NCIT:C178412 | Bartter Syndrome, Type 1 | | NCIT:C23133 | Basal Cell Adenoma of the Mouse Salivary Glands | | NCIT:C39757 | Basal Cell Ameloblastoma | @@ -1405,7 +1378,6 @@ | NCIT:C172308 | Bee Venom Allergy | | NCIT:C35470 | Behavioral Disorder | | NCIT:C116361 | Behavioral Insomnia of Childhood | -| NCIT:C177251 | Behr Syndrome | | NCIT:C4532 | Benign Accessory Urethral Gland Neoplasm | | NCIT:C9004 | Benign Adrenal Cortical Neoplasm | | NCIT:C5116 | Benign Adult Brain Neoplasm | @@ -1589,7 +1561,6 @@ | NCIT:C172707 | Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma | | NCIT:C84597 | Beta-Methylcrotonylglycinuria | | NCIT:C128803 | Bicuspid Aortic Valve | -| NCIT:C179299 | Bietti Crystalline Corneoretinal Dystrophy | | NCIT:C101187 | Bilateral Anophthalmos | | NCIT:C8500 | Bilateral Carcinoma | | NCIT:C101193 | Bilateral Cataracts | @@ -1665,7 +1636,6 @@ | NCIT:C188318 | Blast Phase Primary Myelofibrosis | | NCIT:C35817 | Blastic Granulocytic Sarcoma | | NCIT:C7229 | Blastoid Variant Mantle Cell Lymphoma | -| NCIT:C34428 | Blastomycosis | | NCIT:C27320 | Blennorrhagic Arthritis | | NCIT:C150407 | Body Cavity Primary Effusion Lymphoma | | NCIT:C136610 | Bone Cancer by AJCC v7 Stage | @@ -1684,7 +1654,6 @@ | NCIT:C188064 | Bone Malignant Peripheral Nerve Sheath Tumor | | NCIT:C110960 | Bone Marrow Aplasia | | NCIT:C80693 | Bone Marrow Failure | -| NCIT:C165614 | Bone Marrow Failure Syndrome | | NCIT:C2905 | Bone Marrow Hyperplasia | | NCIT:C74440 | Bone Marrow Suppression | | NCIT:C5110 | Bone Marrow Transplantation Nephropathy | @@ -1859,11 +1828,11 @@ | NCIT:C45602 | Bronchial Mixed Squamous Cell and Glandular Papilloma | | NCIT:C45573 | Bronchial Squamous Cell Papilloma | | NCIT:C183045 | Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor | +| NCIT:C62580 | Bronchiolitis Obliterans | | NCIT:C184957 | Bronchiolitis Obliterans Syndrome | | NCIT:C35327 | Broncho-Esophageal Fistula | | NCIT:C98847 | Bronchomalacia | | NCIT:C80694 | Bronchopleural Fistula | -| NCIT:C183529 | Brown-Vialetto-Van Laere Syndrome 2 | | NCIT:C135565 | Brunner's Gland Hyperplasia | | NCIT:C8175 | Buccal Mucosa Verrucous Carcinoma | | NCIT:C134943 | Budgerigar Fibrosarcoma | @@ -1917,7 +1886,6 @@ | NCIT:C35386 | Cannabis Dependence, Continuous Use | | NCIT:C35387 | Cannabis Dependence, Episodic Use | | NCIT:C22932 | Capillary Hemangioma of the Mouse Blood Vessel | -| NCIT:C179668 | Capillary Malformation-Arteriovenous Malformation Syndrome | | NCIT:C132290 | Carbonic Anhydrase I Deficiency | | NCIT:C65196 | Carcinoid Tumor of Uncertain Malignant Potential | | NCIT:C23124 | Carcinoid Tumor of the Mouse Larynx | @@ -1952,6 +1920,7 @@ | NCIT:C45757 | Cardiac Biphasic Synovial Sarcoma | | NCIT:C45751 | Cardiac Capillary Hemangioma | | NCIT:C45750 | Cardiac Cavernous Hemangioma | +| NCIT:C78245 | Cardiac Conduction Disorder | | NCIT:C183146 | Cardiac Diffuse Large B-Cell Lymphoma | | NCIT:C5362 | Cardiac Epithelioid Hemangioendothelioma | | NCIT:C147003 | Cardiac Extraskeletal Osteosarcoma | @@ -1973,10 +1942,8 @@ | NCIT:C147007 | Cardiac Teratoma | | NCIT:C45755 | Cardiac Undifferentiated Pleomorphic Sarcoma | | NCIT:C147006 | Cardiac Yolk Sac Tumor | -| NCIT:C179868 | Cardiac, Facial, and Digital Anomalies with Developmental Delay | | NCIT:C61453 | Cardiomegaly | | NCIT:C34462 | Cardiomyopathy in Chagas' Disease | -| NCIT:C188216 | Cardiospondylocarpofacial Syndrome | | NCIT:C168128 | Carditis | | NCIT:C23118 | Cartilage/Bone Neoplasms of the Mouse Larynx | | NCIT:C40424 | Cartilaginous Hamartoma | @@ -2073,7 +2040,6 @@ | NCIT:C66803 | Cerebellar Sarcoma | | NCIT:C27030 | Cerebral Abscess | | NCIT:C142852 | Cerebral Adrenoleukodystrophy | -| NCIT:C157147 | Cerebral Amyloid Angiopathy, APP-Related | | NCIT:C173468 | Cerebral Creatine Deficiency Syndrome 2 | | NCIT:C5151 | Cerebral Glioblastoma | | NCIT:C155947 | Cerebral Hemangioblastoma | @@ -2083,7 +2049,6 @@ | NCIT:C7609 | Cerebral Non-Hodgkin Lymphoma | | NCIT:C180840 | Cerebral Vascular Insufficiency | | NCIT:C132727 | Cerebral Vein Thrombosis | -| NCIT:C173085 | Cerebrooculofacioskeletal Syndrome 1 | | NCIT:C5558 | Ceruminous Neoplasm | | NCIT:C127915 | Cervical Adenocarcinoma Admixed with Neuroendocrine Carcinoma | | NCIT:C4520 | Cervical Adenocarcinoma In Situ | @@ -2104,7 +2069,6 @@ | NCIT:C180879 | Cervical Germ Cell Tumor | | NCIT:C7673 | Cervical Glandular Intraepithelial Neoplasia | | NCIT:C40210 | Cervical Glandular Neoplasm | -| NCIT:C3782 | Cervical Intraepithelial Neoplasia | | NCIT:C180861 | Cervical Invasive Stratified Mucinous Adenocarcinoma | | NCIT:C128046 | Cervical Leiomyoma | | NCIT:C40222 | Cervical Low Grade Endometrioid Stromal Sarcoma | @@ -2140,8 +2104,6 @@ | NCIT:C40191 | Cervical Warty Carcinoma | | NCIT:C128055 | Cervical Yolk Sac Tumor | | NCIT:C128715 | Cesarean Scar Pregnancy | -| NCIT:C150609 | Charcot-Marie-Tooth Disease Type 2A1 | -| NCIT:C168974 | Charcot-Marie-Tooth Disease Type 2Y | | NCIT:C124508 | Cheilognathopalatoschisis | | NCIT:C124509 | Cheilognathoschisis | | NCIT:C118458 | Cheiromegaly | @@ -2150,7 +2112,6 @@ | NCIT:C114752 | Chemical Peritonitis | | NCIT:C35316 | Chemical Pneumonitis | | NCIT:C123128 | Chemotherapeutic Drug - Induced Nephropathy | -| NCIT:C164162 | Chemotherapy-Induced Alopecia | | NCIT:C156348 | Chemotherapy-Induced Peripheral Neuropathy | | NCIT:C80691 | Chemotherapy-Related Leukemia | | NCIT:C4372 | Cherry Hemangioma of Lip | @@ -2348,7 +2309,6 @@ | NCIT:C44960 | Chlamydia Psittaci-Associated Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma | | NCIT:C44959 | Chlamydophila psittaci Infection | | NCIT:C35332 | Cholecystitis with Cholelithiasis | -| NCIT:C157812 | Cholera | | NCIT:C22950 | Chondroblastic Osteosarcoma of the Mouse Skeletal System | | NCIT:C22972 | Chondroblastoma of the Mouse Skeletal System, Malignant | | NCIT:C22971 | Chondroblastoma of the Mouse Skeletal System, NOS | @@ -2657,13 +2617,11 @@ | NCIT:C21727 | Combined Epithelial / Stromal Atypical Hyperplasia of the Mouse Prostate Gland | | NCIT:C21714 | Combined Epithelial / Stromal Diffuse Hyperplasia of the Mouse Prostate Gland | | NCIT:C21720 | Combined Epithelial / Stromal Focal Hyperplasia of the Mouse Prostate Gland | -| NCIT:C174548 | Combined Hamartoma of the Retina and Retinal Pigment Epithelium | | NCIT:C176596 | Combined Immunodeficiencies Associated with Syndromic Features | | NCIT:C9379 | Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma | | NCIT:C165529 | Combined Nevus | | NCIT:C187986 | Combined Oxidative Phosphorylation Deficiency 23 | | NCIT:C185238 | Combined Oxidative Phosphorylation Deficiency 27 | -| NCIT:C174440 | Combined Oxidative Phosphorylation Deficiency 33 | | NCIT:C180851 | Combined Oxidative Phosphorylation Deficiency 8 | | NCIT:C45722 | Combined Thymic Epithelial Neoplasm | | NCIT:C27797 | Common Acute Lymphoblastic Leukemia | @@ -2692,11 +2650,9 @@ | NCIT:C35804 | Conditioned Insomnia | | NCIT:C2960 | Condyloma Acuminatum | | NCIT:C97057 | Condyloma Acuminatum with Dysplasia | -| NCIT:C162399 | Cone-Rod Dystrophy 2 | | NCIT:C61234 | Congenital Abnormalities of Erythrocyte Differentiation or Function | | NCIT:C98881 | Congenital Abnormality of the Large Intestine | | NCIT:C35599 | Congenital Adrenal Gland Disorder | -| NCIT:C174439 | Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency | | NCIT:C89161 | Congenital Amegakaryocytosis | | NCIT:C87077 | Congenital Ankyloblepharon | | NCIT:C103266 | Congenital Aortic Arch Hypoplasia | @@ -2744,7 +2700,6 @@ | NCIT:C128732 | Congenital Microcephaly | | NCIT:C180842 | Congenital Microtia | | NCIT:C89337 | Congenital Musculoskeletal Defect | -| NCIT:C168997 | Congenital Myasthenic Syndrome 12 | | NCIT:C174216 | Congenital Myasthenic Syndrome-4C | | NCIT:C123045 | Congenital Nephrotic Syndrome - Cytomegalovirus Associated | | NCIT:C121200 | Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis | @@ -2838,7 +2793,6 @@ | NCIT:C100070 | Coronary Venous Dissection | | NCIT:C181757 | Coronavirus Infection | | NCIT:C179884 | Corpus Callosum Neoplasm | -| NCIT:C135177 | Cortical Cataract | | NCIT:C135197 | Cortical Cataract Grade 1 | | NCIT:C135198 | Cortical Cataract Grade 2 | | NCIT:C135199 | Cortical Cataract Grade 3 | @@ -2869,7 +2823,6 @@ | NCIT:C123179 | Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease | | NCIT:C82902 | Crypt Abscess | | NCIT:C35590 | Cryptococcal Gastroenteritis | -| NCIT:C174113 | Cryptococcal Meningitis | | NCIT:C35361 | Cryptococcal Pneumonia | | NCIT:C98908 | Cryptophthalmos Syndrome | | NCIT:C35591 | Cryptosporidial Gastroenteritis | @@ -2896,7 +2849,6 @@ | NCIT:C168980 | Cutaneous Histiocytic and Dendritic Cell Neoplasm | | NCIT:C168984 | Cutaneous Indeterminate Dendritic Cell Tumor | | NCIT:C168983 | Cutaneous Langerhans Cell Histiocytosis | -| NCIT:C34768 | Cutaneous Leishmaniasis | | NCIT:C171101 | Cutaneous Lymphoma | | NCIT:C45267 | Cutaneous Lymphomatoid Granulomatosis | | NCIT:C7614 | Cutaneous Lymphoproliferative Disorder | @@ -2988,7 +2940,6 @@ | NCIT:C5305 | Deletion of Chromosome 22 Associated Meningioma | | NCIT:C5306 | Deletion of Chromosome 3p Associated Meningioma | | NCIT:C5294 | Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma | -| NCIT:C2981 | Delirium | | NCIT:C92639 | Delirium Due to a General Medical Condition | | NCIT:C35797 | Demyelinating Encephalopathy | | NCIT:C154339 | Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor | @@ -3058,21 +3009,9 @@ | NCIT:C114726 | Dialysis Catheter Tunnel Infection | | NCIT:C50531 | Dialysis Encephalopathy | | NCIT:C50532 | Dialyzer First Use Syndrome | -| NCIT:C176911 | Diamond-Blackfan Anemia 1 | -| NCIT:C176919 | Diamond-Blackfan Anemia 10 | -| NCIT:C176920 | Diamond-Blackfan Anemia 11 | -| NCIT:C176912 | Diamond-Blackfan Anemia 3 | -| NCIT:C176913 | Diamond-Blackfan Anemia 4 | -| NCIT:C176914 | Diamond-Blackfan Anemia 5 | -| NCIT:C176915 | Diamond-Blackfan Anemia 6 | -| NCIT:C176916 | Diamond-Blackfan Anemia 7 | -| NCIT:C176917 | Diamond-Blackfan Anemia 8 | -| NCIT:C176918 | Diamond-Blackfan Anemia 9 | | NCIT:C111886 | Diaper Dermatitis | -| NCIT:C98912 | Diaphragmatic Eventration | | NCIT:C34687 | Diaphragmatic Hernia | | NCIT:C123226 | Diarrhea-associated Hemolytic Uremic Syndrome | -| NCIT:C156311 | Diastrophic Dysplasia | | NCIT:C5129 | Diencephalic Glioblastoma | | NCIT:C5125 | Diencephalic Neoplasm | | NCIT:C162539 | Differentiated (Simplex) Penile Intraepithelial Neoplasia | @@ -3179,7 +3118,6 @@ | NCIT:C173625 | Dilated Cardiomyopathy-1P | | NCIT:C187983 | Dilated Cardiomyopathy-1W | | NCIT:C186785 | Dilated Cardiomyopathy-2C | -| NCIT:C174217 | Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome | | NCIT:C116599 | Diplegia | | NCIT:C50534 | Direct Contact Transmission Infection | | NCIT:C34691 | Direct Inguinal Hernia | @@ -3195,7 +3133,6 @@ | NCIT:C21865 | Disorders of the Mouse Hair Follicle | | NCIT:C21863 | Disorders of the Squamous Epithelium of the Mouse Skin | | NCIT:C35005 | Disorganized Type Schizophrenia | -| NCIT:C99753 | Disruptive Behavior Disorder | | NCIT:C27185 | Disseminated Adenocarcinoma | | NCIT:C113669 | Disseminated Bacillus Calmette-Guerin Infection | | NCIT:C27469 | Disseminated Carcinoma | @@ -3253,24 +3190,11 @@ | NCIT:C98917 | Duplicated Ureter | | NCIT:C95991 | Dural Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue | | NCIT:C79549 | Dysarthria | -| NCIT:C173131 | Dyschromatosis Universalis Hereditaria | | NCIT:C180532 | Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum | | NCIT:C123227 | Dysfunctional Elimination Syndrome | -| NCIT:C182452 | Dysgraphia | -| NCIT:C176921 | Dyskeratosis Congenita, Autosomal Dominant 1 | -| NCIT:C176922 | Dyskeratosis Congenita, Autosomal Dominant 2 | -| NCIT:C176923 | Dyskeratosis Congenita, Autosomal Dominant 3 | -| NCIT:C176924 | Dyskeratosis Congenita, Autosomal Dominant 6 | -| NCIT:C176925 | Dyskeratosis Congenita, Autosomal Recessive 1 | -| NCIT:C176926 | Dyskeratosis Congenita, Autosomal Recessive 2 | -| NCIT:C176927 | Dyskeratosis Congenita, Autosomal Recessive 3 | -| NCIT:C176928 | Dyskeratosis Congenita, Autosomal Recessive 5 | -| NCIT:C176929 | Dyskeratosis Congenita, Autosomal Recessive 6 | | NCIT:C34559 | Dysmenorrhea | | NCIT:C86950 | Dysphonia | | NCIT:C21968 | Dysplastic Lhermitte-Duclos Gangliocytoma of Mouse Cerebellum | -| NCIT:C157577 | Dystonia 12 | -| NCIT:C168729 | Dystonia 16 | | NCIT:C178217 | EBV-Associated Smooth Muscle Tumor | | NCIT:C172847 | EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma | | NCIT:C150704 | EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma of the Digestive System | @@ -3318,8 +3242,6 @@ | NCIT:C97111 | Ecchordosis Physaliphora | | NCIT:C4703 | Eccrine Angiomatous Hamartoma | | NCIT:C7565 | Eccrine Hidrocystoma | -| NCIT:C176592 | Ectodermal Dysplasia and Immunodeficiency 1 | -| NCIT:C176826 | Ectodermal Dysplasia and Immunodeficiency 2 | | NCIT:C121785 | Ectomesenchymal Chondromyxoid Tumor | | NCIT:C8442 | Ectopic Aldosterone Secretion Syndrome | | NCIT:C99113 | Ectopic Atrial Tachycardia | @@ -3418,7 +3340,6 @@ | NCIT:C171452 | Epidemic Disorder | | NCIT:C180730 | Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion | | NCIT:C53296 | Epidermal Hyperplasia | -| NCIT:C176608 | Epidermodysplasia Verruciformis, Susceptibility to, 4 | | NCIT:C156446 | Epidermolysis Bullosa Dystrophica, Autosomal Recessive | | NCIT:C162474 | Epidermolysis Bullosa, Junctional, with Pyloric Atresia | | NCIT:C162483 | Epididymal Cystadenoma | @@ -3547,7 +3468,6 @@ | NCIT:C16835 | Experimental Malignant Melanoma | | NCIT:C119041 | Extended Oligoarticular Juvenile Idiopathic Arthritis | | NCIT:C9049 | Extensive Stage Lung Small Cell Carcinoma | -| NCIT:C128417 | Extensively Drug-Resistant Tuberculosis | | NCIT:C124532 | External Auditory Canal Fistula | | NCIT:C6080 | External Ear Actinic Keratosis | | NCIT:C35320 | External Hemorrhoid | @@ -3585,7 +3505,6 @@ | NCIT:C5850 | Extrahepatic Bile Duct Tubular Adenoma | | NCIT:C96811 | Extrahepatic Bile Duct Tubulopapillary Adenoma | | NCIT:C5780 | Extrahepatic Bile Duct Undifferentiated Carcinoma | -| NCIT:C97069 | Extrahepatic Biliary Atresia | | NCIT:C185149 | Extramedullary Disease in Plasma Cell Myeloma | | NCIT:C185037 | Extramedullary Disease in Plasma Cell Myeloma Involving the Central Nervous System | | NCIT:C185153 | Extramedullary Disease in Plasma Cell Myeloma Involving the Kidney | @@ -3609,7 +3528,6 @@ | NCIT:C161608 | Extrarenal Rhabdoid Tumor of the Prostate | | NCIT:C6570 | Extraskeletal Cartilaginous and Osseous Neoplasm | | NCIT:C6575 | Extraskeletal Osteoma | -| NCIT:C175048 | Exudative Vitreoretinopathy 1 | | NCIT:C175223 | Eye Melanocytoma | | NCIT:C181159 | Eyelid Basal Cell Carcinoma | | NCIT:C140511 | Eyelid Carcinoma by AJCC v7 Stage | @@ -3661,7 +3579,6 @@ | NCIT:C121152 | FSH-Producing Pituitary Neuroendocrine Tumor | | NCIT:C116901 | Facial Nerve Palsy Related to Birth | | NCIT:C101316 | Facial Nerve Palsy Related to Trauma | -| NCIT:C172704 | Facioscapulohumeral Muscular Dystrophy 1 | | NCIT:C26692 | Factor I Deficiency | | NCIT:C131660 | Factor I Inactivation | | NCIT:C131661 | Factor II Inactivation | @@ -3696,7 +3613,6 @@ | NCIT:C173471 | Familial Arrhythmogenic Right Ventricular Dysplasia 9 | | NCIT:C123228 | Familial Atypical Hemolytic Uremic Syndrome | | NCIT:C185245 | Familial Catecholamine-Induced QT Prolongation | -| NCIT:C175208 | Familial Digital Arthropathy-Brachydactyly | | NCIT:C176906 | Familial Gastrointestinal Stromal Tumor | | NCIT:C123261 | Familial Hypercalciuric Hypocalcemia | | NCIT:C172092 | Familial Hypertrophic Cardiomyopathy Type 1 | @@ -3782,7 +3698,6 @@ | NCIT:C22136 | Flat Tubulovillous Adenoma of the Mouse Intestinal Tract | | NCIT:C22133 | Flat Villous Adenoma of the Mouse Intestinal Tract | | NCIT:C54660 | Flexural Skin Nevus | -| NCIT:C175241 | Floating-Harbor Syndrome | | NCIT:C8180 | Floor of Mouth Adenoid Cystic Carcinoma | | NCIT:C129873 | Floor of Mouth Basaloid Squamous Cell Carcinoma | | NCIT:C116708 | Floppy Infant | @@ -3829,9 +3744,7 @@ | NCIT:C134771 | Frog Pronephric Kidney Tumor | | NCIT:C156035 | Frontal Lobe Anaplastic Astrocytoma | | NCIT:C156120 | Frontal Lobe Anaplastic Oligodendroglioma | -| NCIT:C168756 | Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 | | NCIT:C94354 | Frotteurism | -| NCIT:C172316 | Fruit Allergy | | NCIT:C164156 | Fumarate Hydratase-Deficient Renal Cell Carcinoma | | NCIT:C171089 | Functional Disorder of Polymorphonuclear Neutrophils | | NCIT:C116365 | Functional Hearing Loss | @@ -3841,7 +3754,6 @@ | NCIT:C121679 | Functioning Pituitary Neuroendocrine Tumor/Microadenoma | | NCIT:C8961 | Fundic Gland Polyp | | NCIT:C53658 | Fungal Endophthalmitis | -| NCIT:C128370 | Fungal Keratitis | | NCIT:C128406 | Fungal Pericarditis | | NCIT:C99087 | Furuncle | | NCIT:C123732 | Fusion-Negative Alveolar Rhabdomyosarcoma | @@ -3899,7 +3811,6 @@ | NCIT:C115967 | Gangrenous Umbilical Hernia | | NCIT:C49017 | Gardner Fibroma | | NCIT:C118508 | Gasping Syndrome | -| NCIT:C172989 | Gastric Adenocarcinoma and Proximal Polyposis of the Stomach | | NCIT:C95775 | Gastric Adenoma, Gastric-Type | | NCIT:C95773 | Gastric Adenoma, Intestinal-Type | | NCIT:C8400 | Gastric Antrum Carcinoma In Situ AJCC v6 and v7 | @@ -4025,7 +3936,6 @@ | NCIT:C134774 | Gibbon Lymphosarcoma | | NCIT:C27478 | Gingival Angiofibroma | | NCIT:C7721 | Gingival Carcinoma | -| NCIT:C173795 | Gingival Disorder | | NCIT:C129289 | Gingival Spindle Cell Carcinoma | | NCIT:C129857 | Gingival Squamous Cell Carcinoma | | NCIT:C27269 | Glandular Cell Intraepithelial Neoplasia | @@ -4123,14 +4033,12 @@ | NCIT:C7995 | Granular Renal Cell Carcinoma | | NCIT:C22061 | Granulocytic Sarcoma of the Mouse Nervous System | | NCIT:C21641 | Granuloma of the Mouse Mammary Gland | -| NCIT:C3444 | Granulomatosis with Polyangiitis | | NCIT:C37262 | Granulomatous Colitis | | NCIT:C66751 | Granulosa Cell-Theca Cell Tumor | | NCIT:C113421 | Gray Baby Syndrome | | NCIT:C5348 | Great Vessel Neoplasm | | NCIT:C99137 | Great Vessels Abnormality | | NCIT:C116601 | Gross Motor Delay | -| NCIT:C87168 | Group B Streptococcal Infection | | NCIT:C116793 | Group B Streptococcal Infection, Early-Onset | | NCIT:C116795 | Group B Streptococcal Infection, Late-Onset | | NCIT:C134563 | Guinea Pig Colon Adenocarcinoma | @@ -4250,7 +4158,6 @@ | NCIT:C23147 | Hematopoietic Neoplasms of the Mouse Salivary Glands | | NCIT:C7340 | Hematopoietic and Lymphoid Neoplasm (Antiquated) | | NCIT:C35814 | Hematopoietic and Lymphoid System Disorder | -| NCIT:C177779 | Hemimegalencephaly | | NCIT:C5123 | Hemispheric Anaplastic Astrocytoma | | NCIT:C124541 | Hemivertebra | | NCIT:C114724 | Hemodialysis Catheter Infection | @@ -4302,7 +4209,6 @@ | NCIT:C26770 | Hereditary Factor XII Deficiency | | NCIT:C98941 | Hereditary Factor XIII Deficiency | | NCIT:C36107 | Hereditary Female Breast Carcinoma | -| NCIT:C156424 | Hereditary Folate Malabsorption | | NCIT:C36106 | Hereditary Male Breast Carcinoma | | NCIT:C9479 | Hereditary Malignant Neoplasm | | NCIT:C155950 | Hereditary Malignant Urinary System Neoplasm | @@ -4539,10 +4445,8 @@ | NCIT:C7249 | Immunoblastic Lymphoma Post-Transplant Lymphoproliferative Disorder | | NCIT:C176597 | Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency | | NCIT:C176598 | Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency | -| NCIT:C176630 | Immunodeficiency 11B with Atopic Dermatitis | | NCIT:C187988 | Immunodeficiency 14A, Autosomal Dominant | | NCIT:C176795 | Immunodeficiency 26 with or without Neurologic Abnormalities | -| NCIT:C176806 | Immunodeficiency 27A | | NCIT:C176821 | Immunodeficiency 48 | | NCIT:C126296 | Immunodeficiency of Unknown Origin | | NCIT:C176416 | Immunodeficiency with Hyper-IgM, Type 3 | @@ -4556,7 +4460,6 @@ | NCIT:C27936 | Immunodeficiency-Related Neoplasm | | NCIT:C27141 | Immunoglobulin Heavy Chain Deletion | | NCIT:C178942 | Immunosuppressive Disorder | -| NCIT:C158968 | Immunotactoid Glomerulopathy | | NCIT:C123639 | Imperforate Vagina | | NCIT:C78358 | Implant Infection | | NCIT:C138181 | In Situ Follicular Neoplasia | @@ -4589,7 +4492,6 @@ | NCIT:C185473 | Infant-Type Hemispheric Glioma, ROS1-Altered | | NCIT:C6645 | Infantile Hemangioma | | NCIT:C27498 | Infantile Hemangiopericytoma | -| NCIT:C158135 | Infantile Liver Failure Syndrome 2 | | NCIT:C180887 | Infantile Myofibroma | | NCIT:C176943 | Infantile Myofibromatosis 1 | | NCIT:C176944 | Infantile Myofibromatosis 2 | @@ -4634,7 +4536,6 @@ | NCIT:C6156 | Infiltrating Ureter Urothelial Carcinoma with Squamous Differentiation | | NCIT:C164252 | Infiltrating Urothelial Carcinoma, Sarcomatoid Variant | | NCIT:C174448 | Inflamed Juvenile Conjunctival Nevus | -| NCIT:C164676 | Inflammatory Bowel Disease 28 | | NCIT:C172700 | Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma | | NCIT:C21638 | Inflammatory Conditions of the Mouse Mammary Gland | | NCIT:C21697 | Inflammatory Conditions of the Mouse Prostate Gland | @@ -4697,7 +4598,6 @@ | NCIT:C7334 | Intermediate Vascular Neoplasm | | NCIT:C98958 | Interrupted Aortic Arch | | NCIT:C62410 | Interstitial Disease | -| NCIT:C164315 | Interstitial Lung Disease | | NCIT:C27006 | Interstitial Pneumonia | | NCIT:C5325 | Intestinal Composite Gangliocytoma/Neuroma and Neuroendocrine Tumor | | NCIT:C98960 | Intestinal Duplication | @@ -4821,7 +4721,6 @@ | NCIT:C121923 | Ivory Exostosis | | NCIT:C128830 | JC Virus Infection | | NCIT:C94385 | Jealous Type Delusional Disorder | -| NCIT:C181158 | Jejunal Adenocarcinoma | | NCIT:C101027 | Jejunal Atresia | | NCIT:C181157 | Jejunal Carcinoma | | NCIT:C78396 | Jejunal Fistula | @@ -4834,9 +4733,6 @@ | NCIT:C95074 | Jet Lag Type Circadian Rhythm Sleep Disorder | | NCIT:C78402 | Joint Infection | | NCIT:C26804 | Joint Tuberculosis | -| NCIT:C175702 | Joubert Syndrome 17 | -| NCIT:C159653 | Joubert Syndrome 7 | -| NCIT:C181002 | Joubert Syndrome 9 | | NCIT:C5589 | Jugular Foramen Neoplasm | | NCIT:C21783 | Junctional Melanocytic Hyperplasia of Mouse | | NCIT:C4231 | Junctional Nevus | @@ -4867,8 +4763,6 @@ | NCIT:C9113 | Kaposi Sarcoma Related to Immunosuppressive Treatment | | NCIT:C22937 | Kaposi Sarcoma of the Mouse Blood Vessel | | NCIT:C22050 | Kaposi Sarcoma of the Mouse Nervous System | -| NCIT:C173626 | Karyomegalic Interstitial Nephritis | -| NCIT:C186306 | Keipert Syndrome | | NCIT:C64114 | Keratinizing Cystic Epithelioma of the Rat Lung | | NCIT:C7498 | Keratinizing Primary Intraosseous Squamous Cell Carcinoma-Solid Type | | NCIT:C64041 | Keratoacanthoma of the Rat External Ear | @@ -4971,7 +4865,6 @@ | NCIT:C188223 | Laryngeal Neuroendocrine Tumor G1 | | NCIT:C173392 | Laryngeal Neuroendocrine Tumor G2 | | NCIT:C54335 | Laryngeal Papillary Squamous Cell Carcinoma | -| NCIT:C157733 | Laryngeal Papillomatosis | | NCIT:C6409 | Laryngeal Paraganglioma | | NCIT:C173412 | Laryngeal Pleomorphic Adenoma | | NCIT:C7411 | Laryngeal Precancerous Condition | @@ -4996,8 +4889,6 @@ | NCIT:C179188 | Leaky Severe Combined Immunodeficiency | | NCIT:C4791 | Left Atrial Myxoma | | NCIT:C50630 | Left Ventricular Failure | -| NCIT:C157266 | Left Ventricular Noncompaction 7 | -| NCIT:C176941 | Legius Syndrome | | NCIT:C22147 | Leiomyoma of the Mouse Intestinal Tract | | NCIT:C22037 | Leiomyoma of the Mouse Nervous System | | NCIT:C23054 | Leiomyoma of the Mouse Oral Cavity | @@ -5031,7 +4922,6 @@ | NCIT:C118866 | Lid Retraction | | NCIT:C159456 | Light Chain Fanconi Syndrome | | NCIT:C158966 | Light Chain Proximal Tubulopathy without Crystals | -| NCIT:C158965 | Light and Heavy Chain Deposition Disease | | NCIT:C7853 | Limited Stage Lung Small Cell Carcinoma | | NCIT:C132052 | Lingual Thyroid Gland | | NCIT:C8014 | Lip Basal Cell Carcinoma | @@ -5359,8 +5249,6 @@ | NCIT:C179182 | Locally Recurrent Uterine Corpus Leiomyosarcoma | | NCIT:C186786 | Loeys-Dietz Syndrome Type 3 | | NCIT:C188143 | Loeys-Dietz Syndrome Type 5 | -| NCIT:C177534 | Long QT Syndrome 14 | -| NCIT:C172094 | Long QT Syndrome 5 | | NCIT:C34787 | Lordosis | | NCIT:C160144 | Low Anterior Resection Syndrome | | NCIT:C35583 | Low Frequency Hearing Loss | @@ -5477,7 +5365,6 @@ | NCIT:C98976 | Lumbar Myelocele | | NCIT:C101203 | Lumbar Myelomeningocele | | NCIT:C158330 | Lumbar Rib | -| NCIT:C177445 | Lumbar Spinal Stenosis | | NCIT:C35518 | Lumbar Spine Kyphosis | | NCIT:C168673 | Lumbar Spine Neoplasm | | NCIT:C168694 | Lumbosacral Spine Neoplasm | @@ -5594,20 +5481,16 @@ | NCIT:C23084 | Lymphoproliferative Neoplasms of the Mouse Pharynx | | NCIT:C23148 | Lymphoproliferative Neoplasms of the Mouse Salivary Glands | | NCIT:C26960 | Lymphosarcoma Involving Spleen | -| NCIT:C6725 | Lynch 1 Syndrome | -| NCIT:C6726 | Lynch 2 Syndrome | | NCIT:C188259 | MAFA Related Familial Insulinomatosis | | NCIT:C21881 | MAIDS | | NCIT:C148394 | MCD Diffuse Large B-Cell Lymphoma | | NCIT:C154335 | MGMT-Methylated Glioblastoma | | NCIT:C132902 | MGMT-Unmethylated Glioblastoma | -| NCIT:C176823 | MHC Class II Deficiency | | NCIT:C178235 | MYOD1-Mutant Spindle Cell/Sclerosing Rhabdomyosarcoma | | NCIT:C182077 | Macaca mulatta Hepatocellular Carcinoma | | NCIT:C35268 | Macrocephaly | | NCIT:C46092 | Macrofollicular Variant Thyroid Gland Papillary Carcinoma | | NCIT:C127166 | Macronodular Adrenal Hyperplasia | -| NCIT:C158788 | Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss | | NCIT:C172710 | Macrotrabecular Massive Hepatocellular Carcinoma | | NCIT:C168999 | Macular Dystrophy, Retinal, 1 | | NCIT:C123030 | Magnesium Ammonium Phosphate Urolithiasis | @@ -5943,7 +5826,6 @@ | NCIT:C129443 | Medulloblastoma, SHH-Activated, TP53-Wildtype | | NCIT:C129440 | Medulloblastoma, WNT-Activated | | NCIT:C66808 | Medulloepithelioma Not Otherwise Specified | -| NCIT:C187989 | Meester-Loeys Syndrome | | NCIT:C123188 | Megacystis - Megaureter | | NCIT:C7066 | Megakaryocytic Neoplasm | | NCIT:C123161 | Megaureter | @@ -5963,7 +5845,6 @@ | NCIT:C23098 | Melanoma of the Mouse Nose and Paranasal Sinuses | | NCIT:C23062 | Melanoma of the Mouse Oral Cavity | | NCIT:C176905 | Melanoma-Astrocytoma Syndrome | -| NCIT:C176904 | Melanoma-Pancreatic Cancer Syndrome | | NCIT:C64124 | Melanotic Malignant Melanoma of the Rat Skin | | NCIT:C66841 | Melanotic Neurofibroma | | NCIT:C123056 | Membranoproliferative Glomerulonephritis Type 3 (AQ) | @@ -5980,7 +5861,6 @@ | NCIT:C46084 | Memory Dysfunction | | NCIT:C78444 | Memory Impairment | | NCIT:C176601 | Mendelian Susceptibility to Mycobacterial Diseases | -| NCIT:C185243 | Meniere Disease | | NCIT:C27383 | Meningeal Carcinomatosis | | NCIT:C92652 | Meningeal Central Nervous System Solitary Fibrous Tumor, Grade 3 | | NCIT:C9111 | Meningeal Chronic Myelogenous Leukemia, BCR-ABL1 Positive | @@ -6255,7 +6135,6 @@ | NCIT:C175327 | Metastatic Malignant Neoplasm in the Lacrimal System | | NCIT:C4581 | Metastatic Malignant Neoplasm in the Large Intestine | | NCIT:C6031 | Metastatic Malignant Neoplasm in the Larynx | -| NCIT:C3814 | Metastatic Malignant Neoplasm in the Leptomeninges | | NCIT:C8542 | Metastatic Malignant Neoplasm in the Lip | | NCIT:C4758 | Metastatic Malignant Neoplasm in the Liver | | NCIT:C3577 | Metastatic Malignant Neoplasm in the Lung | @@ -6456,7 +6335,6 @@ | NCIT:C181031 | Metastatic Vaginal Squamous Cell Carcinoma | | NCIT:C156066 | Metastatic Vulvar Carcinoma | | NCIT:C174201 | Metastatic Vulvar Squamous Cell Carcinoma | -| NCIT:C175209 | Metatropic Dysplasia | | NCIT:C115248 | Methicillin-Resistant Staphylococcus aureus Infection | | NCIT:C122523 | Methicillin-Resistant Staphylococcus aureus Pneumonia | | NCIT:C182126 | Methicillin-Sensitive Staphylococcus aureus Infection | @@ -6529,7 +6407,6 @@ | NCIT:C35410 | Mite-Borne Hemorrhagic Fever | | NCIT:C176895 | Mitochondrial Complex IV Deficiency, Nuclear Type 1 | | NCIT:C186788 | Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 | -| NCIT:C172095 | Mitochondrial DNA Depletion Syndrome 13 | | NCIT:C185236 | Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) | | NCIT:C183531 | Mitochondrial DNA Depletion Syndrome-9 | | NCIT:C185235 | Mitochondrial DNA Depletion Syndromes | @@ -6591,10 +6468,8 @@ | NCIT:C80310 | Monoclonal B-Cell Lymphocytosis | | NCIT:C157343 | Monoclonal Gammopathy of Renal Significance | | NCIT:C7151 | Monoclonal Immunoglobulin Deposition Disease | -| NCIT:C181652 | Monoclonal Mast Cell Activation Syndrome | | NCIT:C36277 | Monoclonal Polymorphic Post-Transplant Lymphoproliferative Disorder | | NCIT:C39936 | Monodermal Testicular Teratoma | -| NCIT:C129739 | Monogenic Diabetes | | NCIT:C131840 | Monogenic Hyperinsulinism | | NCIT:C23130 | Monomorphic Adenoma of the Mouse Salivary Glands | | NCIT:C7237 | Monomorphic B-Cell Post-Transplant Lymphoproliferative Disorder | @@ -6605,12 +6480,9 @@ | NCIT:C154504 | Monomorphous Plurihormonal Pituitary Neuroendocrine Tumor | | NCIT:C181038 | Monoplegia | | NCIT:C98993 | Monosomy 13q Syndrome | -| NCIT:C176908 | Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 | | NCIT:C62592 | Mood Alteration | | NCIT:C128714 | Morbidly Adherent Placenta | | NCIT:C23001 | Morphologic Variants of Diffuse Large B Cell Lymphoma of the Mouse Hematologic System | -| NCIT:C4075 | Morton Neuroma | -| NCIT:C168989 | Mosaic Variegated Aneuploidy Syndrome 2 | | NCIT:C35174 | Mosquito-Borne Hemorrhagic Fever | | NCIT:C116943 | Motor Developmental Delay | | NCIT:C34042 | Mouse Acinar Cell Adenocarcinoma | @@ -7079,7 +6951,6 @@ | NCIT:C30050 | Mouse Yolk Sac Carcinoma | | NCIT:C7743 | Mouth Mucous Membrane Leukoplakia | | NCIT:C27157 | Mouth Sore | -| NCIT:C183312 | Moyamoya Disease 2 | | NCIT:C107671 | Mucin-Depleted Foci of the Mouse Intestinal Tract | | NCIT:C27379 | Mucin-Producing Adenocarcinoma | | NCIT:C22154 | Mucinous Adenocarcinoma of the Mouse Intestinal Tract | @@ -7119,10 +6990,8 @@ | NCIT:C186307 | Multiorgan Venous and Lymphatic Defect Syndrome | | NCIT:C4135 | Multiple Adenomatous Polyps | | NCIT:C168497 | Multiple Congenital Anomalies | -| NCIT:C176896 | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 | | NCIT:C188257 | Multiple Endocrine Neoplasia Type 5 | | NCIT:C27552 | Multiple Lobular Capillary Hemangiomas | -| NCIT:C179648 | Multiple Organ Dysfunction Syndrome | | NCIT:C53457 | Multiple Osteochondromas | | NCIT:C5663 | Multiple Pulmonary Hamartomas | | NCIT:C185035 | Multiple Solitary Plasmacytoma of Bone | @@ -7181,7 +7050,6 @@ | NCIT:C9502 | Myolipoma | | NCIT:C168339 | Myopathy Secondary to Fatty Acid Oxidation Disorder | | NCIT:C168340 | Myopathy Secondary to Glycogen Storage Disorder | -| NCIT:C157504 | Myopathy due to Myoadenylate Deaminase Deficiency | | NCIT:C84913 | Myotonic Disorder | | NCIT:C9398 | Myxoid Chondrosarcoma NCI Grade 1 | | NCIT:C9399 | Myxoid Chondrosarcoma NCI Grade 2 | @@ -7230,7 +7098,6 @@ | NCIT:C173352 | Nasopharyngeal Pituitary Neuroendocrine Tumor | | NCIT:C6034 | Nasopharyngeal Polyp | | NCIT:C173341 | Nasopharyngeal Salivary Gland Anlage Tumor | -| NCIT:C167265 | Nasopharyngeal Squamous Cell Carcinoma | | NCIT:C6037 | Nasopharyngeal Squamous Cell Papilloma | | NCIT:C128355 | Native Valve Endocarditis | | NCIT:C82217 | Natural Killer Cell Lymphoblastic Leukemia/Lymphoma | @@ -7244,8 +7111,6 @@ | NCIT:C22095 | Necrotizing Enteritis of the Mouse Intestinal Tract | | NCIT:C114909 | Necrotizing Enterocolitis Totalis | | NCIT:C117323 | Necrotizing Funisitis | -| NCIT:C70635 | Necrotizing Vasculitis | -| NCIT:C164225 | Nemaline Myopathy 4 | | NCIT:C165542 | Neoantigen-Positive Malignant Solid Neoplasm | | NCIT:C101028 | Neonatal Aspiration of Amniotic Fluid | | NCIT:C116818 | Neonatal Chemical Conjunctivitis | @@ -7358,9 +7223,6 @@ | NCIT:C21979 | Neuroblastomas of the Mouse Adrenal Gland and Sympathetic Nervous System | | NCIT:C175215 | Neurocutaneous Melanosis | | NCIT:C84932 | Neurocysticercosis | -| NCIT:C175707 | Neurodegeneration with Brain Iron Accumulation 4 | -| NCIT:C175210 | Neurodegeneration with Brain Iron Accumulation 5 | -| NCIT:C89338 | Neurodevelopmental Disorder | | NCIT:C186789 | Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies | | NCIT:C176897 | Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects | | NCIT:C22150 | Neuroendocrine Adenoma of the Mouse Intestinal Tract | @@ -7404,7 +7266,6 @@ | NCIT:C99991 | No Cardiac Valve Regurgitation | | NCIT:C60316 | No Proliferative Lesion Detected | | NCIT:C180516 | No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma | -| NCIT:C171147 | Nocardiosis | | NCIT:C141261 | Nodal Marginal Zone Lymphoma by Ann Arbor Stage | | NCIT:C139005 | Nodal Peripheral T-Cell Lymphoma of T Follicular Helper Cell Origin | | NCIT:C139011 | Nodal Peripheral T-Cell Lymphoma with TFH Phenotype | @@ -7450,7 +7311,6 @@ | NCIT:C95488 | Non-Invasive Pancreatic Mucinous-Cystic Neoplasm | | NCIT:C65164 | Non-Invasive Papillary Squamous Cell Carcinoma | | NCIT:C65181 | Non-Invasive Papillary Transitional Cell Carcinoma | -| NCIT:C172208 | Non-Involuting Congenital Hemangioma | | NCIT:C23071 | Non-Keratinizing Carcinoma of the Mouse Pharynx | | NCIT:C23073 | Non-Keratinizing Carcinoma of the Mouse Pharynx With Lymphoid Stroma | | NCIT:C23072 | Non-Keratinizing Carcinoma of the Mouse Pharynx Without Lymphoid Stroma | @@ -7593,26 +7453,10 @@ | NCIT:C35421 | Nonorganic Insomnia | | NCIT:C27095 | Nonpigmented Nevus | | NCIT:C35100 | Nonpsychotic Mental Disorder Following Organic Brain Damage | -| NCIT:C176938 | Noonan Syndrome 10 | -| NCIT:C177119 | Noonan Syndrome 11 | -| NCIT:C177120 | Noonan Syndrome 12 | -| NCIT:C177121 | Noonan Syndrome 13 | -| NCIT:C176930 | Noonan Syndrome 2 | -| NCIT:C176931 | Noonan Syndrome 3 | -| NCIT:C176932 | Noonan Syndrome 4 | -| NCIT:C176933 | Noonan Syndrome 5 | -| NCIT:C176934 | Noonan Syndrome 6 | -| NCIT:C176935 | Noonan Syndrome 7 | -| NCIT:C176936 | Noonan Syndrome 8 | -| NCIT:C176937 | Noonan Syndrome 9 | -| NCIT:C178129 | Noonan Syndrome-Like Disorder with Loose Anagen Hair | -| NCIT:C176939 | Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 | -| NCIT:C176940 | Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 | | NCIT:C176942 | Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia | | NCIT:C35296 | Nose Deformity | | NCIT:C115297 | Nosocomial Pneumonia | | NCIT:C6486 | Nuchal-Type Fibroma | -| NCIT:C135176 | Nuclear Cataract | | NCIT:C135193 | Nuclear Cataract Grade 1 | | NCIT:C135194 | Nuclear Cataract Grade 2 | | NCIT:C135195 | Nuclear Cataract Grade 3 | @@ -7642,7 +7486,6 @@ | NCIT:C174414 | Ocular Melanocytosis | | NCIT:C176043 | Ocular Surface Squamous Neoplasia | | NCIT:C116333 | Oculo-Respiratory Syndrome | -| NCIT:C168731 | Oculocutaneous Albinism Type 1A | | NCIT:C54317 | Odontoameloblastoma | | NCIT:C173720 | Odontogenic Carcinoma | | NCIT:C173735 | Odontogenic Carcinosarcoma | @@ -7650,7 +7493,6 @@ | NCIT:C7452 | Odontogenic Myxofibroma | | NCIT:C7501 | Odontogenic Myxoma | | NCIT:C173738 | Odontogenic Sarcoma | -| NCIT:C188215 | Ogden Syndrome | | NCIT:C27919 | Old Burn Scar-Related Cutaneous Melanoma | | NCIT:C27771 | Old Burn Scar-Related Neoplasm | | NCIT:C27918 | Old Burn Scar-Related Skin Squamous Cell Carcinoma | @@ -7751,7 +7593,6 @@ | NCIT:C68610 | Oropharyngeal Undifferentiated Carcinoma | | NCIT:C147906 | Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma | | NCIT:C21693 | Osseous Metaplastic Carcinoma of the Mouse Mammary Gland | -| NCIT:C173820 | Ossifying Fibroma | | NCIT:C66774 | Ossifying Renal Tumor of Infancy | | NCIT:C22962 | Osteoblastoma of the Mouse Skeletal System, NOS | | NCIT:C34877 | Osteochondritis | @@ -7790,8 +7631,6 @@ | NCIT:C21660 | Other Non-neoplastic Proliferations of the Mouse Mammary Gland | | NCIT:C21822 | Other Variants of Basaloid Follicular Neoplasm of the Mouse Skin | | NCIT:C157616 | Other and Unspecified Infectious and Parasitic Diseases and their Sequelae | -| NCIT:C79601 | Otitis Externa | -| NCIT:C185242 | Otosclerosis | | NCIT:C43324 | Outer Hair Sheath and Infundibulum Neoplasm | | NCIT:C126331 | Ovarian Adenomatoid Tumor | | NCIT:C128106 | Ovarian Cancer by AJCC v6 and v7 Stage | @@ -7834,7 +7673,6 @@ | NCIT:C105556 | Ovarian Low Grade Serous Adenocarcinoma | | NCIT:C4203 | Ovarian Luteinized Thecoma | | NCIT:C126321 | Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis | -| NCIT:C178441 | Ovarian Melanoma | | NCIT:C179321 | Ovarian Mesonephric-Like Adenocarcinoma | | NCIT:C179339 | Ovarian Mixed Cell Adenocarcinoma | | NCIT:C7321 | Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor | @@ -7903,13 +7741,11 @@ | NCIT:C7141 | PRETEXT Stage 3 Hepatoblastoma | | NCIT:C7142 | PRETEXT Stage 4 Hepatoblastoma | | NCIT:C153467 | PTEN Deficiency | -| NCIT:C179915 | PTEN Hamartoma Tumor Syndrome | | NCIT:C165477 | PUVA Keratosis | | NCIT:C119048 | Pain Amplification Syndrome | | NCIT:C8463 | Palate Carcinoma | | NCIT:C6749 | Palate Kaposi Sarcoma | | NCIT:C4649 | Palate Squamous Cell Carcinoma | -| NCIT:C27177 | Palmar-Plantar Erythrodysthesia | | NCIT:C4702 | Palmoplantar Keratoderma with Leukoplakia | | NCIT:C95542 | Pancreatic Acinar Cell Neoplasm | | NCIT:C67455 | Pancreatic Alpha Cell Adenoma | @@ -8037,7 +7873,6 @@ | NCIT:C6032 | Parathyroid Chief Cell Hyperplasia | | NCIT:C6033 | Parathyroid Clear Cell Hyperplasia | | NCIT:C27346 | Parathyroid Gland Abscess | -| NCIT:C156757 | Parathyroid Gland Adenoma | | NCIT:C48283 | Parathyroid Gland Lipoadenoma | | NCIT:C34894 | Paratyphoid Fever A | | NCIT:C34895 | Paratyphoid Fever B | @@ -8069,7 +7904,6 @@ | NCIT:C34900 | Paroxysmal Atrial Tachycardia | | NCIT:C27643 | Partial Hearing Loss | | NCIT:C172016 | Partial Neonatal Hearing Loss | -| NCIT:C172209 | Partially Involuting Congenital Hemangioma | | NCIT:C35791 | Passive-Aggressive Behavior | | NCIT:C34904 | Passive-Aggressive Personality Disorder | | NCIT:C137662 | Pathologic Stage 0 Cutaneous Melanoma AJCC v8 | @@ -8243,7 +8077,6 @@ | NCIT:C66761 | Periosteal Fibroma | | NCIT:C66763 | Periosteal Fibrosarcoma | | NCIT:C22959 | Periosteal Osteosarcoma of the Mouse Skeletal System | -| NCIT:C171602 | Peripartum Cardiomyopathy | | NCIT:C78533 | Peripheral Arterial Occlusive Disease | | NCIT:C157450 | Peripheral Hemangioblastoma | | NCIT:C5320 | Peripheral Intraneural Angiosarcoma | @@ -8273,22 +8106,15 @@ | NCIT:C27664 | Peritoneal and Retroperitoneal Disorder | | NCIT:C7337 | Peritoneal and Retroperitoneal Neoplasm | | NCIT:C27316 | Permanent Spinal Nerve Paralysis | -| NCIT:C170437 | Peroxisomal Acyl-CoA Oxidase Deficiency | -| NCIT:C155747 | Peroxisome Biogenesis Disorder | | NCIT:C155748 | Peroxisome Biogenesis Disorder 1A | -| NCIT:C155749 | Peroxisome Biogenesis Disorder 1B | | NCIT:C155750 | Peroxisome Biogenesis Disorder 2A | -| NCIT:C155751 | Peroxisome Biogenesis Disorder 2B | | NCIT:C155753 | Peroxisome Biogenesis Disorder 3B | | NCIT:C155760 | Peroxisome Biogenesis Disorder 7A | -| NCIT:C155761 | Peroxisome Biogenesis Disorder 7B | | NCIT:C155762 | Peroxisome Biogenesis Disorder 8A | -| NCIT:C155763 | Peroxisome Biogenesis Disorder 8B | | NCIT:C94386 | Persecutory Type Delusional Disorder | | NCIT:C186234 | Persistent Atrioventricular Canal | | NCIT:C99014 | Persistent Cloaca | | NCIT:C161553 | Persistent Hyaloid Vessels | -| NCIT:C161554 | Persistent Hyperplastic Primary Vitreous | | NCIT:C120189 | Persistent Mullerian Duct Syndrome Type I | | NCIT:C120190 | Persistent Mullerian Duct Syndrome Type II | | NCIT:C119040 | Persistent Oligoarticular Juvenile Idiopathic Arthritis | @@ -8308,7 +8134,6 @@ | NCIT:C78553 | Pharyngeal Mucositis | | NCIT:C173355 | Pharyngeal Non-Hodgkin Lymphoma | | NCIT:C127823 | Pharyngocutaneous Fistula | -| NCIT:C157124 | Phelan-McDermid Syndrome | | NCIT:C27361 | Philadelphia Chromosome Negative BCR-ABL1 Negative Chronic Myelogenous Leukemia | | NCIT:C9129 | Philadelphia Chromosome Negative, BCR-ABL1 Positive Chronic Myelogenous Leukemia | | NCIT:C9128 | Philadelphia Chromosome Positive, BCR-ABL1 Positive Chronic Myelogenous Leukemia | @@ -8324,7 +8149,6 @@ | NCIT:C21654 | Physiological Diffuse Hyperplasia of the Mouse Mammary Gland | | NCIT:C21710 | Physiological Diffuse Hyperplasia of the Mouse Prostate Gland | | NCIT:C21716 | Physiological Focal Hyperplasia of the Mouse Prostate Gland | -| NCIT:C187288 | Pigment Dispersion Syndrome | | NCIT:C4164 | Pigmented Adrenal Cortical Adenoma | | NCIT:C165498 | Pigmented Epithelioid Melanocytoma | | NCIT:C27816 | Pigmented Nevus | @@ -8428,11 +8252,9 @@ | NCIT:C6493 | Plexiform Fibrohistiocytic Tumor | | NCIT:C45916 | Plurihormonal Pituitary Neuroendocrine Tumor | | NCIT:C154505 | Plurimorphous Plurihormonal Pituitary Neuroendocrine Tumor | -| NCIT:C157958 | Pneumococcal Meningitis | | NCIT:C157959 | Pneumococcal Pneumonia | | NCIT:C134962 | Poeciliopsis Lucida Hepatocellular Carcinoma | | NCIT:C53975 | Poikiloderma | -| NCIT:C177535 | Poikiloderma with Neutropenia | | NCIT:C66801 | Polar Spongioblastoma | | NCIT:C119033 | Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative | | NCIT:C61280 | Polyarticular Still Disease | @@ -8542,7 +8364,6 @@ | NCIT:C7144 | Postsurgical Stage III Hepatoblastoma | | NCIT:C7143 | Postsurgical Stage IV Hepatoblastoma | | NCIT:C50705 | Posttraumatic Wound Infection | -| NCIT:C85020 | Postural Orthostatic Tachycardia Syndrome | | NCIT:C98899 | Postural Scoliosis | | NCIT:C27261 | Pre T-ALL | | NCIT:C27798 | Pre-B Acute Lymphoblastic Leukemia | @@ -8577,7 +8398,6 @@ | NCIT:C181207 | Primary Bone Hodgkin Lymphoma | | NCIT:C121930 | Primary Bone Non-Hodgkin Lymphoma | | NCIT:C4834 | Primary Bone Osteosarcoma | -| NCIT:C170814 | Primary Brain Neoplasm | | NCIT:C4975 | Primary Brain Stem Neoplasm | | NCIT:C176251 | Primary Breast Angiosarcoma | | NCIT:C178476 | Primary Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 | @@ -8585,11 +8405,6 @@ | NCIT:C102871 | Primary Central Nervous System Neoplasm | | NCIT:C175464 | Primary Choroidal Non-Hodgkin Lymphoma | | NCIT:C175466 | Primary Ciliary Body Non-Hodgkin Lymphoma | -| NCIT:C128117 | Primary Ciliary Dyskinesia 1 | -| NCIT:C148370 | Primary Ciliary Dyskinesia 14 | -| NCIT:C155999 | Primary Ciliary Dyskinesia 15 | -| NCIT:C172393 | Primary Ciliary Dyskinesia 29 | -| NCIT:C172392 | Primary Ciliary Dyskinesia 3 | | NCIT:C123113 | Primary Collapsing Glomerulopathy | | NCIT:C139023 | Primary Cutaneous Acral CD8-Positive T-Cell Lymphoma | | NCIT:C6858 | Primary Cutaneous B-Cell Non-Hodgkin Lymphoma | @@ -8750,8 +8565,6 @@ | NCIT:C21728 | Prostatic Intraepithelial Neoplasia of the Mouse Prostate Gland | | NCIT:C128356 | Prosthetic Valve Endocarditis | | NCIT:C50709 | Prosthetic Valve Thrombosis | -| NCIT:C176619 | Proteasome-Associated Autoinflammatory Syndrome 1 | -| NCIT:C179930 | Proteus-Like Syndrome | | NCIT:C165628 | Proximal Gastric Adenocarcinoma | | NCIT:C114477 | Proximal Tubulopathy | | NCIT:C115334 | Proximal Urethral Carcinoma | @@ -8776,7 +8589,6 @@ | NCIT:C142825 | Pulmonary Artery Intimal Sarcoma | | NCIT:C99030 | Pulmonary Artery Stenosis | | NCIT:C78577 | Pulmonary Fistula | -| NCIT:C99035 | Pulmonary Hypoplasia | | NCIT:C51447 | Pulmonary Insufficiency | | NCIT:C45607 | Pulmonary Lymphomatoid Granulomatosis | | NCIT:C7435 | Pulmonary Precancerous Condition | @@ -8789,7 +8601,6 @@ | NCIT:C35531 | Pulmonary Vascular Disorder | | NCIT:C43277 | Pure Cutaneous Mastocytosis | | NCIT:C7467 | Pure Erythroid Leukemia | -| NCIT:C176817 | Purine Nucleoside Phosphorylase Deficiency | | NCIT:C50719 | Pyogenic Infection | | NCIT:C45692 | Pyothorax | | NCIT:C45691 | Pyothorax-Associated Lymphoma | @@ -8843,7 +8654,6 @@ | NCIT:C174377 | Radiculoneuropathy | | NCIT:C134573 | Rainbow Trout Hepatoma | | NCIT:C136977 | Rainbow Trout Mesothelioma | -| NCIT:C172207 | Rapidly Involuting Congenital Hemangioma | | NCIT:C35561 | Rare Neoplastic Syndrome | | NCIT:C53543 | Rare Non-Neoplastic Disorder | | NCIT:C63820 | Rat Acanthomatous Ameloblastoma | @@ -9158,7 +8968,6 @@ | NCIT:C156718 | Recurrent Acute Myeloid Leukemia with Recurrent Genetic Abnormalities | | NCIT:C156719 | Recurrent Acute Myeloid Leukemia with t (9;11) (p21.3; q23.3); MLLT3-MLL | | NCIT:C156717 | Recurrent Acute Myelomonocytic Leukemia | -| NCIT:C184324 | Recurrent Acute Pancreatitis | | NCIT:C169107 | Recurrent Acute Promyelocytic Leukemia with PML-RARA | | NCIT:C141446 | Recurrent Acute Undifferentiated Leukemia | | NCIT:C162612 | Recurrent Adamantinomatous Craniopharyngioma | @@ -9844,7 +9653,6 @@ | NCIT:C8658 | Refractory Anaplastic Large Cell Lymphoma | | NCIT:C169074 | Refractory Anaplastic Oligodendroglioma | | NCIT:C160905 | Refractory Anaplastic Pleomorphic Xanthoastrocytoma | -| NCIT:C2872 | Refractory Anemia | | NCIT:C8671 | Refractory Angioimmunoblastic T-Cell Lymphoma | | NCIT:C179178 | Refractory Appendix Adenocarcinoma | | NCIT:C179177 | Refractory Appendix Carcinoma | @@ -10249,7 +10057,6 @@ | NCIT:C7603 | Regressing Nevus | | NCIT:C7090 | Regressing Non-Cutaneous Melanoma | | NCIT:C34975 | Reiter Syndrome | -| NCIT:C165675 | Relapsing-Remitting Multiple Sclerosis | | NCIT:C117322 | Remote Placental Infarction | | NCIT:C123017 | Renal Abscess | | NCIT:C114844 | Renal Allograft Thrombosis | @@ -10279,7 +10086,6 @@ | NCIT:C99042 | Renal Vein Thrombosis | | NCIT:C174186 | Renal and Perinephric Abscess | | NCIT:C5100 | Renomedullary Interstitial Cell Tumor | -| NCIT:C165533 | Renpenning Syndrome | | NCIT:C176696 | Repeat Expansion Disease | | NCIT:C7335 | Reproductive Endocrine Neoplasm | | NCIT:C170962 | Resectable Adenocarcinoma of Unknown Primary | @@ -10347,7 +10153,6 @@ | NCIT:C174539 | Retinal Astrocytoma | | NCIT:C26968 | Retinal Defect | | NCIT:C26967 | Retinal Detachment and Defect | -| NCIT:C26875 | Retinal Disorder | | NCIT:C168587 | Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities | | NCIT:C164155 | Retinal Dystrophy with or without Extraocular Anomalies | | NCIT:C124578 | Retinal Fold | @@ -10371,9 +10176,6 @@ | NCIT:C173808 | Retroperitoneal Undifferentiated Pleomorphic Sarcoma | | NCIT:C128324 | Retropharyngeal Abscess | | NCIT:C162825 | Retropharyngeal Neoplasm | -| NCIT:C176903 | Rett Syndrome, Congenital Variant | -| NCIT:C178393 | Rhabdoid Tumor Predisposition Syndrome 1 | -| NCIT:C178394 | Rhabdoid Tumor Predisposition Syndrome 2 | | NCIT:C22039 | Rhabdomyoma of the Mouse Nervous System | | NCIT:C24161 | Rhabdomyosarcoma of the Mouse Gallbladder | | NCIT:C22040 | Rhabdomyosarcoma of the Mouse Nervous System | @@ -10393,12 +10195,9 @@ | NCIT:C186278 | Ring Chromosome 21 Syndrome | | NCIT:C179702 | Ring Chromosome 22 Syndrome | | NCIT:C175705 | Ring Chromosome 8 Syndrome | -| NCIT:C188150 | Robertsonian Translocation Down Syndrome | | NCIT:C35412 | Rodent-Borne Hemorrhagic Fever | | NCIT:C67559 | Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle | | NCIT:C157973 | Rotaviral Enteritis | -| NCIT:C178826 | Rothmund-Thomson Syndrome Type 1 | -| NCIT:C178827 | Rothmund-Thomson Syndrome Type 2 | | NCIT:C9401 | Round Cell Liposarcoma NCI Grade 2 | | NCIT:C9402 | Round Cell Liposarcoma NCI Grade 3 | | NCIT:C178460 | Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion | @@ -10472,8 +10271,6 @@ | NCIT:C35837 | Salivary Gland Sialoblastoma | | NCIT:C8024 | Salivary Gland Undifferentiated Carcinoma | | NCIT:C171146 | Salmonella Septicemia | -| NCIT:C157974 | Salmonellosis | -| NCIT:C171201 | Salpingo-Oophoritis | | NCIT:C131134 | Salt-Wasting 21-Hydroxylase Deficiency | | NCIT:C9388 | Sarcoma NCI Grade 1 | | NCIT:C9400 | Sarcoma NCI Grade 2 | @@ -10591,7 +10388,6 @@ | NCIT:C34524 | Senile Dementia | | NCIT:C4393 | Senile Nevus | | NCIT:C27952 | Senile Sebaceous Hyperplasia | -| NCIT:C168588 | Senior-Loken Syndrome | | NCIT:C63711 | Sensory Disorder | | NCIT:C26973 | Sensory Hearing Loss | | NCIT:C3364 | Septicemia | @@ -10604,7 +10400,6 @@ | NCIT:C179738 | Serous Tubal Intraepithelial Lesion | | NCIT:C107673 | Serrated Lesion of the Mouse Intestinal Tract | | NCIT:C96414 | Serrated Lesions and Polyps | -| NCIT:C168988 | Sertoli Cell-Only Syndrome | | NCIT:C22119 | Sessile Adenoma of the Mouse Intestinal Tract | | NCIT:C22120 | Sessile Tubular Adenoma of the Mouse Intestinal Tract | | NCIT:C22126 | Sessile Tubulovillous Adenoma of the Mouse Intestinal Tract | @@ -10624,7 +10419,6 @@ | NCIT:C162694 | Severe Combined Immunodeficiency, Athabascan Type | | NCIT:C176804 | Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive | | NCIT:C176807 | Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative | -| NCIT:C166152 | Severe Congenital Neutropenia | | NCIT:C176827 | Severe Congenital Neutropenia Type 1, Autosomal Dominant | | NCIT:C176610 | Severe Congenital Neutropenia Type 2, Autosomal Dominant | | NCIT:C166153 | Severe Congenital Neutropenia Type 3, Autosomal Recessive | @@ -10642,14 +10436,11 @@ | NCIT:C157977 | Sexually Transmitted Chlamydial Disease | | NCIT:C165546 | Shared Neoantigen-Positive Malignant Solid Neoplasm | | NCIT:C94391 | Shared Psychotic Disorder | -| NCIT:C172320 | Shellfish Allergy | | NCIT:C95075 | Shift Work Type Circadian Rhythm Sleep Disorder | -| NCIT:C157978 | Shigellosis | | NCIT:C92206 | Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome | | NCIT:C101041 | Short Segment Hirschsprung Disease | | NCIT:C120113 | Short Stature Homeobox Deficiency | | NCIT:C176389 | Short Supernumerary Rib | -| NCIT:C26882 | Sialadenitis | | NCIT:C127828 | Sialocele | | NCIT:C173682 | Sialolipoma | | NCIT:C70647 | Sicca Syndrome | @@ -10774,7 +10565,6 @@ | NCIT:C6578 | Skin Myxoma | | NCIT:C62282 | Skin Nodular Basal Cell Carcinoma | | NCIT:C5616 | Skin Nodular Solid Basal Cell Carcinoma | -| NCIT:C34557 | Skin Pigmentation Disorder | | NCIT:C170476 | Skin Pleomorphic Lipoma | | NCIT:C170473 | Skin Pleomorphic Liposarcoma | | NCIT:C27719 | Skin Radiation-Related Angiosarcoma | @@ -10925,7 +10715,6 @@ | NCIT:C156310 | Spinal Muscular Atrophy Type 2 | | NCIT:C85076 | Spinal Muscular Atrophy of Childhood | | NCIT:C168693 | Spinal Neoplasm | -| NCIT:C177444 | Spinal Stenosis | | NCIT:C35626 | Spinal Vascular Disorder | | NCIT:C21745 | Spindle Cell / Sarcomatoid Carcinoma of the Mouse Prostate Gland | | NCIT:C22936 | Spindle Cell Hemangioendothelioma of the Mouse Blood Vessel | @@ -10938,10 +10727,6 @@ | NCIT:C121654 | Spindle Cell/Sclerosing Rhabdomyosarcoma | | NCIT:C43333 | Spindle-Cell Predominant Trichodiscoma | | NCIT:C21810 | Spindle-cell Squamous Cell Carcinoma of the Mouse Skin | -| NCIT:C179861 | Spinocerebellar Ataxia Type 17 | -| NCIT:C163756 | Spinocerebellar Ataxia Type 19/22 | -| NCIT:C176901 | Spinocerebellar Ataxia Type 31 | -| NCIT:C165500 | Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 | | NCIT:C167344 | Spiradenocylindrocarcinoma | | NCIT:C167342 | Spiradenocylindroma | | NCIT:C21820 | Spiradenoma Type of Basaloid Follicular Neoplasm of the Mouse Skin | @@ -12922,7 +12707,6 @@ | NCIT:C168582 | Steroid Resistant Acute Graft Versus Host Disease | | NCIT:C168540 | Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease | | NCIT:C156671 | Steroid-Refractory Pneumonitis | -| NCIT:C168733 | Stickler Syndrome Type 1 | | NCIT:C61278 | Still Disease | | NCIT:C78629 | Stoma Site Infection | | NCIT:C9405 | Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCI Grade 2 | @@ -12937,7 +12721,6 @@ | NCIT:C4292 | Strumal Carcinoid | | NCIT:C34923 | Stump Hallucination | | NCIT:C117321 | Subacute Placental Infarction | -| NCIT:C35071 | Subacute Thyroiditis | | NCIT:C35185 | Subchronic Schizophrenia | | NCIT:C50758 | Subclinical Infection | | NCIT:C157995 | Subcutaneous Disorder | @@ -13004,7 +12787,6 @@ | NCIT:C101273 | Suspected Necrotizing Enterocolitis | | NCIT:C3682 | Sweat Gland Tubular Carcinoma | | NCIT:C85178 | Swyer James Syndrome | -| NCIT:C168445 | Sydenham Chorea | | NCIT:C171549 | Symptomatic COVID-19 Infection Laboratory-Confirmed | | NCIT:C176467 | Synovial Chondrosarcoma | | NCIT:C23059 | Synovial Neoplasms of the Mouse Oral Cavity | @@ -13052,9 +12834,7 @@ | NCIT:C180407 | Tectal Glioma | | NCIT:C35063 | Teething Syndrome | | NCIT:C22952 | Telangiectatic Osteosarcoma of the Mouse Skeletal System | -| NCIT:C152065 | Telomere Syndrome | | NCIT:C156036 | Temporal Lobe Anaplastic Astrocytoma | -| NCIT:C177244 | Temporal Lobe Epilepsy | | NCIT:C156042 | Temporal Lobe Pleomorphic Xanthoastrocytoma | | NCIT:C22067 | Teratoma of the Mouse Nervous System | | NCIT:C22070 | Teratoma of the Mouse Nervous System with Malignant Transformation | @@ -13126,7 +12906,6 @@ | NCIT:C168454 | Thoracotomy Scar | | NCIT:C100020 | Three Vessel Coronary Disease | | NCIT:C35506 | Throat Carcinoma | -| NCIT:C176617 | Thrombocytopenia 1 | | NCIT:C28195 | Thromboembolism | | NCIT:C180553 | Thrombotic Disorder | | NCIT:C98897 | Thumb Hypoplasia | @@ -13140,7 +12919,6 @@ | NCIT:C146717 | Thymic Hepatoid Adenocarcinoma | | NCIT:C95057 | Thymic Hodgkin Lymphoma | | NCIT:C45380 | Thymic Mucosa-Associated Lymphoid Tissue Lymphoma | -| NCIT:C171031 | Thymic Neuroendocrine Carcinoma | | NCIT:C162460 | Thymic Neuroendocrine Neoplasm | | NCIT:C45720 | Thymic Typical Carcinoid Tumor | | NCIT:C95038 | Thymoliposarcoma | @@ -13227,7 +13005,6 @@ | NCIT:C173807 | Tongue Adenosquamous Carcinoma | | NCIT:C156273 | Tongue Alveolar Soft Part Sarcoma' | | NCIT:C4824 | Tongue Carcinoma | -| NCIT:C173793 | Tongue Disorder | | NCIT:C7734 | Tongue Lipoma | | NCIT:C173404 | Tongue Liposarcoma | | NCIT:C181160 | Tongue Mucoepidermoid Carcinoma | @@ -13241,13 +13018,11 @@ | NCIT:C78639 | Tooth Infection | | NCIT:C118306 | Tooth Malformation | | NCIT:C27755 | Topoisomerase II Inhibitor-Related Acute Myeloid Leukemia | -| NCIT:C156361 | Torsion Dystonia 6 | | NCIT:C101040 | Total Colonic Aganglionosis | | NCIT:C116766 | Tourettism | | NCIT:C172040 | Toxic Anterior Segment Syndrome | | NCIT:C110936 | Toxic Methemoglobinemia with Cyanosis | | NCIT:C27063 | Toxic Polyneuropathy | -| NCIT:C85194 | Toxocariasis | | NCIT:C35396 | Toxoplasma Pneumonia | | NCIT:C3688 | Trabecular Adenoma | | NCIT:C35754 | Tracheal Atresia | @@ -13326,10 +13101,6 @@ | NCIT:C21817 | Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin | | NCIT:C43329 | Trichofollicular Carcinoma | | NCIT:C21818 | Trichofolliculoma Type of Basaloid Follicular Neoplasm of the Mouse Skin | -| NCIT:C156433 | Trichothiodystrophy 1, Photosensitive | -| NCIT:C173103 | Trichothiodystrophy 2, Photosensitive | -| NCIT:C173099 | Trichothiodystrophy 3, Photosensitive | -| NCIT:C173102 | Trichothiodystrophy 7, Nonphotosensitive | | NCIT:C50843 | Tricuspid Valve Regurgitation | | NCIT:C85203 | Trigger Finger Disorder | | NCIT:C35710 | Triple A Syndrome | @@ -13396,9 +13167,6 @@ | NCIT:C39964 | Typical Ovarian Thecoma | | NCIT:C126293 | UNC13D Deficiency | | NCIT:C99104 | UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency | -| NCIT:C173106 | UV-Sensitive Syndrome 1 | -| NCIT:C173110 | UV-Sensitive Syndrome 2 | -| NCIT:C173107 | UV-Sensitive Syndrome 3 | | NCIT:C4694 | Ulcerated Oral Leukoplakia | | NCIT:C22111 | Ulceration of the Mouse Intestinal Tract | | NCIT:C122413 | Ulcerative Colitis Flare | @@ -13740,7 +13508,6 @@ | NCIT:C7987 | Uveal Spindle Cell Type A Melanoma | | NCIT:C7988 | Uveal Spindle Cell Type B Melanoma | | NCIT:C50794 | Uveitis Glaucoma and Hyphema Syndrome | -| NCIT:C181924 | VEXAS Syndrome | | NCIT:C113671 | Vaccine-Associated Paralytic Poliomyelitis | | NCIT:C35523 | Vaginal Abscess | | NCIT:C180947 | Vaginal Adenocarcinoma of Skene Gland Origin | @@ -13779,7 +13546,6 @@ | NCIT:C181940 | Vaginal Smooth Muscle Tumor of Uncertain Malignant Potential | | NCIT:C40265 | Vaginal Soft Tissue Neoplasm | | NCIT:C181936 | Vaginal Solitary Fibrous Tumor | -| NCIT:C180915 | Vaginal Squamous Cell Carcinoma | | NCIT:C128079 | Vaginal Superficial Myofibroblastoma | | NCIT:C128061 | Vaginal Tubulosquamous Polyp | | NCIT:C40264 | Vaginal Undifferentiated Carcinoma | @@ -13800,7 +13566,6 @@ | NCIT:C122412 | Vaso-Occlusive Crisis | | NCIT:C181762 | Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease | | NCIT:C181761 | Vaso-Occlusive Crisis in Sickle Cell-SS Disease | -| NCIT:C35279 | Vein Disorder | | NCIT:C98642 | Vein of Galen Malformation | | NCIT:C36196 | Vena Cava Occlusion | | NCIT:C159323 | Vena Cava Thrombosis | @@ -13907,7 +13672,6 @@ | NCIT:C177797 | WHO Grade 1 Glioma | | NCIT:C184991 | Waisman Syndrome | | NCIT:C135002 | Walleye Dermal Sarcoma | -| NCIT:C164675 | Warsaw Breakage Syndrome | | NCIT:C23132 | Warthin's Tumor of the Mouse Salivary Glands | | NCIT:C126409 | Warthin-Like Variant Thyroid Gland Papillary Carcinoma | | NCIT:C176819 | Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome | @@ -13932,8 +13696,6 @@ | NCIT:C45700 | Widely Invasive Thymoma | | NCIT:C165597 | Williams-Beuren Region Duplication Syndrome | | NCIT:C131006 | Wilms Tumor 1 Gene Syndromes | -| NCIT:C170731 | Winchester Syndrome | -| NCIT:C176820 | Wiskott-Aldrich Syndrome 2 | | NCIT:C41341 | Withdrawal | | NCIT:C131078 | Wolff-Chaikoff Phenomenon | | NCIT:C124251 | Woodchuck Hepatocellular Carcinoma | @@ -13941,19 +13703,14 @@ | NCIT:C173469 | X-Linked Cardiac Valvular Dysplasia | | NCIT:C180844 | X-Linked Deafness-4 | | NCIT:C180843 | X-Linked Deafness-5, with Peripheral Neuropathy | -| NCIT:C85234 | X-Linked Dominant Hypophosphatemic Rickets | -| NCIT:C126336 | X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia | | NCIT:C172807 | X-Linked Protoporphyria | | NCIT:C154315 | X-linked Chronic Granulomatous Disease | | NCIT:C170434 | X-linked Lymphoproliferative Syndrome 1 | -| NCIT:C173111 | XFE Progeroid Syndrome | | NCIT:C85210 | XO Syndrome | | NCIT:C85236 | XXXY and XXXXY Syndrome | | NCIT:C134574 | Xenopus Neoplasm | | NCIT:C35134 | Xeroderma | -| NCIT:C156031 | Xeroderma Pigmentosum-Cockayne Syndrome Complex | | NCIT:C134575 | Xiphophorus Melanoma | -| NCIT:C177544 | Xq25 Microduplication Syndrome | | NCIT:C185244 | Y-Linked Spermatogenic Failure-2 | | NCIT:C176704 | YARSopathy | | NCIT:C64001 | Yolk Sac Carcinoma of the Rat Ovary | diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index d4ab2e0a..4845faae 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -4,19 +4,15 @@ |:--------------|:-----------------------------------------------------------------------------------------------------------------------| | OMIM:619835 | 3-methylglutaconic aciduria, iia 7a | | OMIM:619959 | acces syndrome | -| OMIM:620015 | advance sleep phase syndrome, familial, 4 | | OMIM:619824 | agammaglobulinemia 8b, autosomal recessive | | OMIM:619268 | alzahrani-kuwahara syndrome | -| OMIM:620104 | amelogenesis imperfecta, iia 1k | | OMIM:620285 | amyotrophic lateral sclerosis 27, juvenile | -| OMIM:620019 | arthrogryposis, distal, iia 11 | | OMIM:619352 | ataxia, intention tremor, and hypotonia syndrome, childhood-onset | | OMIM:620184 | atelis syndrome 1 | | OMIM:620185 | atelis syndrome 2 | +| OMIM:606215 | atrioventricular septal defect | | OMIM:619957 | attention deficit-hyperactivity disorder 8 | | OMIM:619832 | auditory neuropathy, autosomal dominant 3 | -| OMIM:619339 | bartsocas-papas syndrome 2 | -| OMIM:619326 | bdv syndrome | | OMIM:620076 | bent bone dysplasia syndrome 2 | | OMIM:619481 | bile acid malabsorption, primary, 2 | | OMIM:619534 | biliary, renal, neurologic, and skeletal syndrome | @@ -30,31 +26,15 @@ | OMIM:619690 | brunet-wagner neurodevelopmental syndrome | | OMIM:619314 | buratti-harel syndrome | | OMIM:620067 | cardiac valvular dysplasia 2 | -| OMIM:620247 | cardiomyopathy, dilated, 1oo | -| OMIM:620203 | cardiomyopathy, dilated, 2h | -| OMIM:620236 | cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | -| OMIM:619941 | carey-fineman-ziter syndrome 2 | -| OMIM:620253 | cataract 50 with or without glaucoma | -| OMIM:619338 | cataracts, spastic paraparesis, and speech delay | | OMIM:619576 | cerebellar ataxia, brain abnormalities, and cardiac conduction defects | | OMIM:619761 | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | | OMIM:619538 | cerebral cavernous malformations 4 | -| OMIM:620068 | charcot-marie-tooth disease, axonal, iia 2ii | -| OMIM:620111 | charcot-marie-tooth disease, demyelinating, iia 1j | | OMIM:619841 | chilton-okur-chung neurodevelopmental syndrome | -| OMIM:620010 | cholestasis, progressive familial intrahepatic, 12 | | OMIM:619504 | chopra-amiel-gordon syndrome | | OMIM:619649 | chromosome 16q12 duplication syndrome | | OMIM:619343 | chromosome 1p36 deletion syndrome, proximal | | OMIM:301069 | chromosome xq13 duplication syndrome | -| OMIM:620032 | ciliary dyskinesia, primary, 48, without situs inversus | -| OMIM:620197 | ciliary dyskinesia, primary, 49, without situs inversus | | OMIM:620099 | cleidocranial dysplasia 2 | -| OMIM:619743 | combined oxidative phosphorylation deficiency 55 | -| OMIM:620139 | combined oxidative phosphorylation deficiency 56 | -| OMIM:620167 | combined oxidative phosphorylation deficiency 57 | -| OMIM:620200 | congenital disorder of glycosylation, iia iiy | -| OMIM:620201 | congenital disorder of glycosylation, iia iiz | | OMIM:619714 | congenital disorder of glycosylation, iia iw, autosomal dominant | | OMIM:619657 | congenital heart defects, multiple types, 8, with or without heterotaxy | | OMIM:620294 | congenital heart defects, multiple types, 9 | @@ -65,30 +45,18 @@ | OMIM:620265 | congenital myopathy 2b, severe infantile, autosomal recessive | | OMIM:620278 | congenital myopathy 2c, severe infantile, autosomal dominant | | OMIM:619871 | corneal dystrophy, punctiform and polychromatic pre-descemet | -| OMIM:620156 | cortical dysplasia, complex, with other brain malformations 11 | | OMIM:616994 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | | OMIM:619727 | craniotubular dysplasia, ikegawa iia | -| OMIM:620227 | deafness, autosomal dominant 85 | | OMIM:620280 | deafness, autosomal dominant 86 | | OMIM:620281 | deafness, autosomal dominant 87 | | OMIM:620283 | deafness, autosomal dominant 88 | | OMIM:620284 | deafness, autosomal dominant 89 | -| OMIM:620238 | deafness, autosomal recessive 120 | | OMIM:619354 | deafness, cataract, impaired intellectual development, and polyneuropathy | | OMIM:619488 | degcags syndrome | | OMIM:619613 | delayed puberty, self-limited | | OMIM:619877 | dentici-novelli neurodevelopmental syndrome | -| OMIM:619913 | developmental and epileptic encephalopathy 103 | -| OMIM:619970 | developmental and epileptic encephalopathy 104 | -| OMIM:619983 | developmental and epileptic encephalopathy 105 with hypopituitarism | -| OMIM:620028 | developmental and epileptic encephalopathy 106 | -| OMIM:620033 | developmental and epileptic encephalopathy 107 | -| OMIM:620115 | developmental and epileptic encephalopathy 108 | -| OMIM:620145 | developmental and epileptic encephalopathy 109 | -| OMIM:620149 | developmental and epileptic encephalopathy 110 | | OMIM:620240 | developmental delay with hypotonia, myopathy, and brain abnormalities | | OMIM:619575 | developmental delay with or without intellectual impairment or behavioral abnormalities | -| OMIM:620062 | developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | | OMIM:620098 | developmental delay with variable intellectual disability and dysmorphic facies | | OMIM:619694 | developmental delay with variable neurologic and brain abnormalities | | OMIM:620065 | developmental delay, behavioral abnormalities, and neuropsychiatric disorders | @@ -97,17 +65,12 @@ | OMIM:619475 | developmental delay, impaired speech, and behavioral abnormalities | | OMIM:619964 | developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | | OMIM:620141 | developmental delay, language impairment, and ocular abnormalities | -| OMIM:620072 | diamond-blackfan anemia 21 | | OMIM:620025 | diaphragmatic hernia 4, with cardiovascular defects | | OMIM:619955 | dworschak-punetha neurodevelopmental syndrome | -| OMIM:620133 | dyskeratosis congenita, autosomal recessive 8 | -| OMIM:620040 | dyskeratosis congenita, digenic | | OMIM:619345 | dysostosis multiplex, ain-naz iia | -| OMIM:619921 | dystonia 35, childhood-onset | | OMIM:619681 | dystonia, early-onset, and/or spastic paraplegia | | OMIM:619817 | epidermolysis bullosa, junctional 6, with pyloric atresia | | OMIM:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | -| OMIM:620245 | episodic kinesigenic dyskinesia 3 | | OMIM:620058 | familial apolipoprotein gene cluster deletion syndrome | | OMIM:620116 | fatty liver disease, protection from | | OMIM:619376 | faundes-banka syndrome | @@ -121,20 +84,14 @@ | OMIM:619902 | hepatorenocardiac degenerative fibrosis | | OMIM:619702 | heterotaxy, visceral, 12, autosomal | | OMIM:619311 | hiatt-neu-cooper neurodevelopmental syndrome | -| OMIM:620241 | hydrocephalus, congenital, 5, susceptibility to | -| OMIM:620211 | hyperinsulinemic hypoglycemia, familial, 8 | +| OMIM:147060 | hyper-ige recurrent infection syndrome 1, autosomal dominant | | OMIM:620085 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | | OMIM:619324 | hypertriglyceridemia 2 | | OMIM:619836 | hypoalphalipoproteinemia, primary, 2, intermediate | | OMIM:619406 | hypokalemic tubulopathy and deafness | -| OMIM:620152 | hypomagnesemia 7, renal, with or without dilated cardiomyopathy | | OMIM:619545 | hypoplastic femurs and pelvis | -| OMIM:620177 | hypotrichosis 15 | | OMIM:620148 | ichthyosis, annular epidermolytic, 2 | -| OMIM:619935 | immunodeficiency 106, susceptibility to viral infections | -| OMIM:619986 | immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection | | OMIM:620282 | immunodeficiency 109 with lymphoproliferation | -| OMIM:619733 | inclusion body myopathy and brain white matter abnormalities | | OMIM:620199 | inflammatory poikiloderma with hair abnormalities and acral keratoses | | OMIM:620021 | intellectual developmental disorder with autism and dysmorphic facies | | OMIM:619556 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | @@ -142,51 +99,30 @@ | OMIM:620007 | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | | OMIM:620086 | intellectual developmental disorder with ocular anomalies and distinctive facial features | | OMIM:619844 | intellectual developmental disorder with or without peripheral neuropathy | -| OMIM:301095 | intellectual developmental disorder, X-linked 110 | -| OMIM:619927 | intellectual developmental disorder, autosomal dominant 67 | -| OMIM:619934 | intellectual developmental disorder, autosomal dominant 68 | -| OMIM:620157 | intellectual developmental disorder, autosomal dominant 70 | -| OMIM:619931 | intellectual developmental disorder, autosomal recessive 76 | -| OMIM:619988 | intellectual developmental disorder, autosomal recessive 77 | -| OMIM:620237 | intellectual developmental disorder, autosomal recessive 78 | -| OMIM:301066 | intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | | OMIM:619719 | intellectual disability and myopathy syndrome | | OMIM:620045 | intestinal dysmotility syndrome | | OMIM:620121 | iron overload, susceptibility to | | OMIM:620232 | joint contractures, osteochondromas, and b-cell lymphoma | | OMIM:620009 | keratoderma-ichthyosis-deafness syndrome, autosomal recessive | -| OMIM:619297 | kinsship syndrome | | OMIM:619762 | kury-isidor syndrome | | OMIM:620192 | lacrimoauriculodentodigital syndrome 2 | | OMIM:620193 | lacrimoauriculodentodigital syndrome 3 | | OMIM:619864 | leukodystrophy, childhood-onset, remitting | -| OMIM:619851 | leukodystrophy, hypomyelinating, 24 | -| OMIM:620243 | leukodystrophy, hypomyelinating, 25 | | OMIM:620269 | leukodystrophy, hypomyelinating, 26, with chondrodysplasia | | OMIM:619991 | liver disease, severe congenital | | OMIM:619460 | luo-schoch-yamamoto syndrome | -| OMIM:620014 | lymphatic malformation 12 | -| OMIM:620244 | lymphatic malformation 13 | | OMIM:619769 | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | | OMIM:619977 | macular dystrophy, retinal, 4 | | OMIM:619290 | mahvash disease | -| OMIM:619322 | marbach-rustad progeroid syndrome | | OMIM:619680 | marbach-schaaf neurodevelopmental syndrome | -| OMIM:620047 | microcephaly 29, primary, autosomal recessive | -| OMIM:620183 | microcephaly 30, primary, autosomal recessive | -| OMIM:620135 | mitochondrial complex 1 deficiency, nuclear iia 39 | -| OMIM:620137 | mitochondrial complex 3 deficiency, nuclear iia 11 | | OMIM:619355 | mitochondrial complex 4 deficiency, nuclear iia 22 | | OMIM:620275 | mitochondrial complex 4 deficiency, nuclear iia 23 | -| OMIM:620153 | mosaic variegated aneuploidy syndrome 4 | -| OMIM:620189 | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | | OMIM:619518 | muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | | OMIM:620166 | muscular dystrophy, congenital, with or without seizures | | OMIM:620138 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | | OMIM:619424 | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | | OMIM:620286 | myopathy, sarcoplasmic body | | OMIM:619468 | nephronophthisis-like nephropathy 2 | -| OMIM:620049 | nephrotic syndrome, iia 26 | | OMIM:619869 | neurocardiofaciodigital syndrome | | OMIM:620089 | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | | OMIM:619847 | neurodegeneration, childhood-onset, with progressive microcephaly | @@ -247,7 +183,6 @@ | OMIM:620080 | neuronopathy, distal hereditary motor, iia 10 | | OMIM:619539 | neuroocular syndrome | | OMIM:620195 | obesity and hypopigmentation | -| OMIM:619318 | oculogastrointestinal neurodevelopmental syndrome | | OMIM:619356 | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | | OMIM:620154 | oocyte maturation defect 13 | | OMIM:620276 | oocyte maturation defect 14 | @@ -258,53 +193,28 @@ | OMIM:619491 | parkinson disease 24, autosomal dominant, susceptibility to | | OMIM:619903 | peripheral motor neuropathy, childhood-onset, biotin-responsive | | OMIM:619859 | phosphoribosylaminoimidazole carboxylase deficiency | -| OMIM:620056 | polycystic kidney disease 7 | -| OMIM:619938 | premature ovarian failure 20 | | OMIM:620005 | primordial dwarfism-immunodeficiency-lipodystrophy syndrome | | OMIM:620125 | pseudohypoaldosteronism, iia ib2, autosomal recessive | | OMIM:620126 | pseudohypoaldosteronism, iia ib3, autosomal recessive | +| OMIM:606963 | pulmonary disease, chronic obstructive | | OMIM:620155 | rabin-pappas syndrome | | OMIM:619312 | radio-tartaglia syndrome | -| OMIM:179300 | radioulnar synostosis, nonsyndromic, susceptibility to | | OMIM:619695 | rauch-steindl syndrome | | OMIM:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | | OMIM:619446 | retinal dystrophy and microvillus inclusion disease | -| OMIM:620102 | retinitis pigmentosa 95 | -| OMIM:620228 | retinitis pigmentosa 96 | | OMIM:620235 | rhabdomyolysis, susceptibility to, 1 | -| OMIM:180295 | rhabdomyosarcoma, embryonal, 2 | | OMIM:619598 | rhizomelic dysplasia, ain-naz iia | | OMIM:181460 | schistosoma mansoni infection, susceptibility/resistance to | | OMIM:620231 | short qt syndrome 7 | | OMIM:619489 | short stature, dauber-argente iia | | OMIM:619557 | short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | | OMIM:619464 | sick sinus syndrome 4 | -| OMIM:620221 | spastic paraplegia 79a, autosomal dominant, with ataxia | -| OMIM:619966 | spastic paraplegia 87, autosomal recessive | -| OMIM:620106 | spastic paraplegia 88, autosomal dominant | -| OMIM:619937 | spermatogenic failure 74 | -| OMIM:619949 | spermatogenic failure 75 | -| OMIM:620084 | spermatogenic failure 76 | -| OMIM:620103 | spermatogenic failure 77 | -| OMIM:620170 | spermatogenic failure 78 | -| OMIM:620196 | spermatogenic failure 79 | -| OMIM:620222 | spermatogenic failure 80 | | OMIM:620277 | spermatogenic failure 81 | | OMIM:301099 | spermatogenic failure, x-linked, 5 | | OMIM:301101 | spermatogenic failure, x-linked, 6 | | OMIM:620011 | spinal muscular atrophy, distal, autosomal recessive, 6 | -| OMIM:620174 | spinocerebellar ataxia 27b, late-onset | -| OMIM:619806 | spinocerebellar ataxia 49 | -| OMIM:620158 | spinocerebellar ataxia 50 | -| OMIM:619862 | spinocerebellar ataxia, autosomal recessive 32 | -| OMIM:620208 | spinocerebellar ataxia, autosomal recessive 33 | -| OMIM:620022 | stickler syndrome, iia 6 | | OMIM:301080 | systemic lupus erythematosus 17 | -| OMIM:619950 | tessadori-bicknell-van haaften neurodevelopmental syndrome 3 | -| OMIM:619951 | tessadori-bicknell-van haaften neurodevelopmental syndrome 4 | | OMIM:301071 | thrombophilia, x-linked, due to factor 8 defect | -| OMIM:620198 | thyroid hormone metabolism, abnormal, 3 | -| OMIM:620173 | tooth agenesis, selective, 10 | | OMIM:619975 | tumor predisposition syndrome 2 | | OMIM:619467 | usmani-riazuddin syndrome, autosomal dominant | | OMIM:619548 | usmani-riazuddin syndrome, autosomal recessive | @@ -312,27 +222,8 @@ | OMIM:619400 | visceral leiomyopathy, african degenerative | | OMIM:619350 | visceral myopathy 2 | | OMIM:619472 | viss syndrome | -| OMIM:619947 | waardenburg syndrome, iia 2f | | OMIM:619426 | white-kernohan syndrome | | OMIM:619701 | yoon-bellen neurodevelopmental syndrome | | OMIM:619648 | zaki syndrome | | OMIMPS:117000 | | -| OMIMPS:136550 | | -| OMIMPS:142340 | | -| OMIMPS:146590 | | -| OMIMPS:149730 | | -| OMIMPS:167870 | | -| OMIMPS:212093 | | -| OMIMPS:213980 | | -| OMIMPS:226400 | | -| OMIMPS:232200 | | -| OMIMPS:254940 | | -| OMIMPS:256550 | | -| OMIMPS:267750 | | -| OMIMPS:300491 | | -| OMIMPS:601457 | | -| OMIMPS:607602 | | -| OMIMPS:614592 | | -| OMIMPS:616901 | | -| OMIMPS:619980 | | -| OMIMPS:620184 | | \ No newline at end of file +| OMIMPS:267750 | | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index 273dca74..172f6056 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -2,13 +2,8 @@ ### Unmapped mappable terms _(!excluded, !deprecated)_ | subject_id | subject_label | |:----------------|:--------------------------------------------------------------------------------------------------------------------------------------------| -| Orphanet:623801 | Acute flaccid myelitis | -| Orphanet:617304 | Amniotic fluid embolism | -| Orphanet:519276 | Anterior segment developmental abnormality with extraocular manifestations | | Orphanet:522540 | Anterior segment developmental anomaly of genetic origin | | Orphanet:449306 | Antibiotic therapy dose selection | -| Orphanet:622014 | Autoimmune encephalitis | -| Orphanet:623615 | Autoimmune limbic encephalitis | | Orphanet:319719 | Autoinflammatory syndrome of childhood | | Orphanet:631068 | Autosomal dominant spastic paraplegia type 80 | | Orphanet:631073 | Autosomal recessive spastic paraplegia type 82 | @@ -17,30 +12,11 @@ | Orphanet:631082 | Autosomal recessive spastic paraplegia type 85 | | Orphanet:631085 | Autosomal recessive spastic paraplegia type 86 | | Orphanet:631088 | Autosomal recessive spastic paraplegia type 87 | -| Orphanet:620217 | Bartter syndrome type 1 | -| Orphanet:620220 | Bartter syndrome type 2 | -| Orphanet:623789 | Body integrity dysphoria | -| Orphanet:619972 | CADINS disease | | Orphanet:633028 | CPE-related Prader-Willi-like syndrome | | Orphanet:631251 | Cancer of unknown primary site | -| Orphanet:618891 | Chronic neurovisceral acid sphingomyelinase deficiency | -| Orphanet:617408 | Classic eosinophilic pustular folliculitis | -| Orphanet:435930 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | -| Orphanet:498491 | Complete hemimelia | | Orphanet:306644 | Complication after organ transplantation | -| Orphanet:617449 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | -| Orphanet:519333 | Congenital optic disc excavation | | Orphanet:522514 | Congenital optic disc excavation of genetic origin | -| Orphanet:617910 | Conjunctival malignant melanoma | -| Orphanet:619979 | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | -| Orphanet:617916 | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia | | Orphanet:519337 | Disorder with optic nerve compression | -| Orphanet:620368 | EGF-related primary hypomagnesemia with intellectual disability | -| Orphanet:619948 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | -| Orphanet:99704 | Early-onset obesity-hyperphagia-severe developmental delay syndrome | -| Orphanet:617919 | F12-associated cold autoinflammatory syndrome | -| Orphanet:619953 | Familial hyperinflammatory lymphoproliferative immunodeficiency | -| Orphanet:621758 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | | Orphanet:325697 | Genetic 46,XX disorder of sex development | | Orphanet:325706 | Genetic 46,XY disorder of sex development | | Orphanet:325713 | Genetic 46,XY disorder of sex development of endocrine origin | @@ -62,14 +38,9 @@ | Orphanet:269567 | Genetic syndrome with a cerebellar malformation as a major feature | | Orphanet:404574 | Genetic syndrome with limb reduction defects | | Orphanet:254685 | Gestational trophoblastic disease | -| Orphanet:620371 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | | Orphanet:324950 | Granulomatous autoinflammatory syndrome of childhood | -| Orphanet:617930 | Hemophilia B Leyden | -| Orphanet:619233 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome | | Orphanet:632603 | Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome | -| Orphanet:619941 | Immune deficiency due to impaired neutrophil phagocytosis and migration | | Orphanet:623638 | Immune-mediated cerebellar ataxia | -| Orphanet:619340 | Inherited hematologic cancer-predisposing syndrome | | Orphanet:633035 | Intellectual disability-early-onset cataract-microcephaly syndrome | | Orphanet:633124 | Invasive scopulariopsis infection | | Orphanet:519300 | Isolated chorioretinal dystrophy | @@ -78,7 +49,6 @@ | Orphanet:522534 | Lacrimal drainage system anomaly of genetic origin | | Orphanet:522552 | Lens position anomaly of genetic origin | | Orphanet:522550 | Lens size anomaly of genetic origin | -| Orphanet:623695 | MIR140-related spondyloepiphyseal dysplasia | | Orphanet:565785 | Methotrexate dose selection | | Orphanet:631248 | Mitchell Syndrome | | Orphanet:90056 | Moderate and severe traumatic brain injury | @@ -86,40 +56,15 @@ | Orphanet:634475 | Mosaic NF2-related schwannomatosis | | Orphanet:634461 | Mosaic neurofibromatosis type 1 | | Orphanet:634492 | Mosaic schwannomatosis | -| Orphanet:619284 | Narcolepsy | -| Orphanet:619363 | Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 | | Orphanet:634518 | Neurofibromatosis/schwannomatosis | | Orphanet:98740 | Neurological muscular channelopathy due to a genetic calcium channel defect | | Orphanet:98739 | Neurological muscular channelopathy due to a genetic chloride channel defect | | Orphanet:98741 | Neurological muscular channelopathy due to a genetic potassium channel defect | | Orphanet:98742 | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | | Orphanet:98738 | Neurological muscular channelopathy due to a genetic sodium channel defect | -| Orphanet:624199 | Non-specific autoimmune brainstem encephalitis with characteristic antibodies | -| Orphanet:624216 | Non-specific autoimmune brainstem encephalitis without characteristic antibodies | -| Orphanet:624259 | Non-specific autoimmune cerebellar ataxia with characteristic antibodies | -| Orphanet:624268 | Non-specific autoimmune cerebellar ataxia without characteristic antibodies | -| Orphanet:624166 | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies | -| Orphanet:624178 | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies | -| Orphanet:620198 | Non-syndromic bicoronal and metopic craniosynostosis | -| Orphanet:620205 | Non-syndromic bicoronal and sagittal craniosynostosis | -| Orphanet:620178 | Non-syndromic bilambdoid craniosynostosis | -| Orphanet:620192 | Non-syndromic metopic and sagittal craniosynostosis | -| Orphanet:620152 | Non-syndromic multisutural craniosynostosis | -| Orphanet:620158 | Non-syndromic non-specific multisutural craniosynostosis | -| Orphanet:620212 | Non-syndromic pansynostosis | -| Orphanet:620186 | Non-syndromic unicoronal and sagittal craniosynostosis | -| Orphanet:620102 | Non-syndromic unicoronal craniosynostosis | -| Orphanet:620139 | Non-syndromic unifrontosphenoidal craniosynostosis | -| Orphanet:620113 | Non-syndromic unilambdoid craniosynostosis | -| Orphanet:620146 | Non-syndromic unisquamosal craniosynostosis | -| Orphanet:620096 | Non-syndromic unisutural craniosynostosis | | Orphanet:633099 | PAICS deficiency | -| Orphanet:617440 | Painful legs and moving toes syndrome | -| Orphanet:623626 | Paraneoplastic cerebellar degeneration | -| Orphanet:624190 | Paraneoplastic isolated brainstem encephalitis | | Orphanet:523000 | Pediatric-onset glaucoma | | Orphanet:324939 | Periodic fever syndrome of childhood | -| Orphanet:624244 | Postinfectious cerebellitis | | Orphanet:633211 | Preaxial digit brachydactyly-webbed fingers | | Orphanet:619277 | Prediction of antihistamines toxicity | | Orphanet:529828 | Prediction of enzalutamide toxicity | @@ -137,7 +82,6 @@ | Orphanet:413681 | Prediction of toxicity or dose selection of oral antidiabetic drugs | | Orphanet:413687 | Prediction of toxicity or dose selection of thiopurine drugs | | Orphanet:413674 | Prediction of toxicity or dose selection of vitamin K antagonists | -| Orphanet:620363 | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | | Orphanet:633228 | Proximal femoral focal deficiency | | Orphanet:324942 | Pyogenic autoinflammatory syndrome of childhood | | Orphanet:626609 | Rare andrological tumor | @@ -181,8 +125,6 @@ | Orphanet:519317 | Rare retinal vasculopathy | | Orphanet:519298 | Rare scleral disorder | | Orphanet:519353 | Rare trochlear nerve disorder | -| Orphanet:619367 | SAMD9L-associated autoinflammatory syndrome | -| Orphanet:622934 | SBDS-related severe neonatal spondylometaphyseal dysplasia | | Orphanet:633024 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | | Orphanet:633021 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | | Orphanet:633014 | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome | @@ -193,25 +135,19 @@ | Orphanet:544260 | Selection of therapeutic option in melanoma | | Orphanet:357191 | Selection of therapeutic option in non-small cell lung carcinoma | | Orphanet:618572 | Selection of therapeutic option in ovarian cancer | -| Orphanet:617301 | Selective intrauterine growth restriction | | Orphanet:631095 | Spinocerebellar ataxia type 44 | | Orphanet:631103 | Spinocerebellar ataxia type 48 | | Orphanet:631106 | Spinocerebellar ataxia type 49 | | Orphanet:633076 | Split cord malformation, composite type | | Orphanet:253 | Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | -| Orphanet:622099 | Superior mesenteric artery syndrome | | Orphanet:519321 | Syndromic chorioretinal dystrophy | | Orphanet:522548 | Syndromic genetic cataract | | Orphanet:522520 | Syndromic genetic disorder with strabismus | | Orphanet:522554 | Syndromic genetic ectopia lentis | | Orphanet:522564 | Syndromic genetic keratoconus | | Orphanet:519274 | Syndromic lacrimal system disorder | -| Orphanet:519294 | Syndromic microspherophakia | | Orphanet:241043 | Tacrolimus dose selection | -| Orphanet:617294 | Twin anemia-polycythemia sequence | -| Orphanet:617297 | Twin-reversed arterial perfusion sequence | | Orphanet:481671 | Type 1 interferonopathy of childhood | | Orphanet:324953 | Unclassified autoinflammatory syndrome of childhood | | Orphanet:324960 | Unexplained periodic fever syndrome of childhood | -| Orphanet:622925 | X-linked severe syndromic thoracic aortic aneurysm and dissection | | Orphanet:C001 | | \ No newline at end of file diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index d196e633..390fb0c7 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/7742495e-ba16-4c5d-a5cc-83c0b9b4eb59 +# mapping_set_id: https://w3id.org/sssom/mappings/9fb5fc2e-8254-4ed0-b2cd-c2095bcaa167 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 583e9329..5ec4698b 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/4eb4fca2-f4ed-4990-8341-ddae8756277d +# mapping_set_id: https://w3id.org/sssom/mappings/4f63e789-54ab-49ba-9550-d605c912e9bc diff --git a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv index 5b30225c..6d84e262 100644 --- a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv +++ b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv @@ -14,7 +14,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/810223fa-2848-40f1-b2b2-f81914cbcf56 +# mapping_set_id: https://w3id.org/sssom/mappings/0a3d59c7-2e5e-46d3-818b-b757d5616af1 # mapping_tool: oaklib # object_match_field: # - oio:hasDbXref @@ -25,26 +25,26 @@ # subject_preprocessing: # - semapv:RegularExpressionReplacement subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string subject_preprocessing object_preprocessing -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement -MONDO:0000001 disease skos:exactMatch NCIT:C25457 Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label condition +MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement -MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement +MONDO:0000001 disease skos:exactMatch NCIT:C25457 Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label condition +MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C113211 Hypocortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocortisolemia +MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement MONDO:0000022 nocturnal enuresis skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bedwetting MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060873 +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266464 +MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034013 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058084 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044701 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034013 MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673913 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 @@ -53,31 +53,30 @@ MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:Lexical MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535441 MONDO:0000115 Chiari malformation skos:exactMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arnold-chiari malformation MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063361 -MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 +MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label icf syndrome -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850343 MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 -MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone marrow failure syndrome MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neu-laxova syndrome MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laband syndrome +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laband syndrome MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616033 MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836694 MONDO:0000212 hypercalcemia, infantile skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercalcemia, idiopathic, of infancy @@ -87,90 +86,85 @@ MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus ty MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatemia MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperphosphatemia MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028282 -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ullrich congenital muscular dystrophy +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym costovertebral dysplasia MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 -MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylocostal dysplasia -MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma +MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital glaucoma +MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm +MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus squamous cell carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus mucoepidermoid carcinoma -MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenocarcinoma MONDO:0000390 vitelliform macular dystrophy skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339510 MONDO:0000395 alcohol-related birth defect skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3146244 MONDO:0000397 ataxic cerebral palsy skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxic cerebral palsy -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects -MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985290 +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome +MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C92728 Alcohol Related Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol related neurodevelopmental disorder MONDO:0000426 autosomal dominant disease skos:exactMatch NCIT:C98829 Autosomal Dominant Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant disorder semapv:RegularExpressionReplacement MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 -MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C82341 Spinocerebellar Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinocerebellar ataxia MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare ataxia +MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia MONDO:0000440 metabolic acidosis skos:exactMatch NCIT:C28228 Metabolic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic acidosis -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 +MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial short qt syndrome -MONDO:0000455 cone dystrophy skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label progressive cone dystrophy -MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression +MONDO:0000455 cone dystrophy skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy +MONDO:0000463 Ochoa syndrome skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder +MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urofacial syndrome MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ochoa syndrome MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochoa syndrome +MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 -MONDO:0000463 Ochoa syndrome skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:exactMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized isolated dystonia MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C35527 Familial Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dystonia +MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000481 cervical dystonia skos:closeMatch NCIT:C85072 Spasmodic Torticollis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spasmodic torticollis -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid neuroskeletal syndrome +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833662 -MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal adenocarcinoma -MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jejunal adenocarcinoma -MONDO:0000543 ovarian melanoma skos:exactMatch NCIT:C178441 Ovarian Melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian melanoma MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000598 aphasia skos:exactMatch NCIT:C34393 Aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphasia MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gouty nephropathy, familial juvenile +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor MONDO:0000644 cervical benign neoplasm skos:narrowMatch ICD10CM:D26.0 Other benign neoplasm of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym benign neoplasm of cervix uteri semapv:RegularExpressionReplacement MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053865 MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346190 -MONDO:0000665 apraxia skos:exactMatch NCIT:C180557 Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia MONDO:0000678 simultanagnosia skos:exactMatch NCIT:C84395 Simultanagnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simultanagnosia MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 @@ -186,216 +180,207 @@ MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch NCIT:C75003 Synpolyda MONDO:0000723 stutter disorder skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stammering MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10CM:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10WHO:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033377 -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005745 -MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome +MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 +MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome +MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306229 -MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria -MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50483 Cardiopulmonary Arrest semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiopulmonary arrest MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50479 Cardiac Arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest -MONDO:0000755 ectopic pregnancy skos:narrowMatch ICD10WHO:O00.8 Other ectopic pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ectopic pregnancy semapv:RegularExpressionReplacement +MONDO:0000745 cardiac arrest skos:exactMatch NCIT:C50483 Cardiopulmonary Arrest semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiopulmonary arrest MONDO:0000755 ectopic pregnancy skos:narrowMatch ICD10CM:O00.8 Other ectopic pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ectopic pregnancy semapv:RegularExpressionReplacement -MONDO:0000766 corneal endothelial dystrophy skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal endothelial dystrophy +MONDO:0000755 ectopic pregnancy skos:narrowMatch ICD10WHO:O00.8 Other ectopic pregnancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ectopic pregnancy semapv:RegularExpressionReplacement MONDO:0000766 corneal endothelial dystrophy skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym corneal endothelial dystrophy -MONDO:0000770 shellfish allergy skos:exactMatch NCIT:C172320 Shellfish Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shellfish allergy -MONDO:0000778 fruit allergy skos:exactMatch NCIT:C172316 Fruit Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fruit allergy +MONDO:0000766 corneal endothelial dystrophy skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal endothelial dystrophy MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 -MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral capillary malformations MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cavernous angiomatous malformations -MONDO:0000827 salmonellosis skos:exactMatch NCIT:C157974 Salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salmonellosis -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036117 +MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral capillary malformations MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039447 -MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombotic disorder -MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement +MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036117 MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C27083 Blood Clot semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blood clot -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 +MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement +MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombotic disorder MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016664 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia +MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C6919 T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t lymphoblastic lymphoma MONDO:0000888 gastrointestinal mucositis skos:closeMatch NCIT:C115965 Mucositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucositis -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with neuronopathy MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonus-dystonia syndrome +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonus-dystonia syndrome MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-dystonia syndrome -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch NCIT:C176008 Familial Arrhythmogenic Right Ventricular Dysplasia 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch NCIT:C176008 Familial Arrhythmogenic Right Ventricular Dysplasia 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 -MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312612 MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch OMIM:312612 retinitis pigmentosa 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, x-linked recessive, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312612 +MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600792 -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616649 MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch OMIM:616649 spherocytosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616649 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065551 +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 -MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous insufficiency MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label venous insufficiency +MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous insufficiency MONDO:0000946 psychologic vaginismus skos:exactMatch NCIT:C35113 Psychogenic Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psychogenic vaginismus -MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder semapv:RegularExpressionReplacement +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis -MONDO:0000995 familial periodic paralysis skos:closeMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis -MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis MONDO:0001011 breast cyst skos:exactMatch NCIT:C5315 Breast Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cyst MONDO:0001029 Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-feil sequence MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 +MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal atresia MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia -MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0001045 intestinal atresia skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207500 MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301800 +MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207500 MONDO:0001046 imperforate anus skos:closeMatch NCIT:C78173 Anal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal stenosis MONDO:0001048 orbital granuloma skos:exactMatch NCIT:C3653 Orbital Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital granuloma MONDO:0001056 gastric cancer skos:closeMatch OMIM:613659 gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cancer, intestinal MONDO:0001061 pylorus cancer skos:exactMatch NCIT:C188051 Malignant Pylorus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant pylorus neoplasm -MONDO:0001071 intellectual disability skos:narrowMatch ICD10CM:F78 Other intellectual disabilities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym intellectual disabilities semapv:RegularExpressionReplacement MONDO:0001071 intellectual disability skos:closeMatch NCIT:C84392 Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation +MONDO:0001071 intellectual disability skos:narrowMatch ICD10CM:F78 Other intellectual disabilities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym intellectual disabilities semapv:RegularExpressionReplacement +MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi renotubular syndrome +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephropathic cystinosis -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult fanconi syndrome -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi renotubular syndrome MONDO:0001095 mediastinum neuroblastoma skos:closeMatch NCIT:C6628 Mediastinal Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mediastinal neuroblastoma MONDO:0001103 giardiasis skos:closeMatch NCIT:C77213 Giardia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giardia -MONDO:0001105 renal hypertension skos:closeMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label renovascular hypertension MONDO:0001105 renal hypertension skos:exactMatch NCIT:C3121 Renal Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypertension +MONDO:0001105 renal hypertension skos:closeMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label renovascular hypertension MONDO:0001117 methemoglobinemia skos:narrowMatch ICD10CM:D74.8 Other methemoglobinemias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym methemoglobinemias semapv:RegularExpressionReplacement -MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant essential hypertension -MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant essential hypertension MONDO:0001134 essential hypertension skos:exactMatch NCIT:C3478 Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential hypertension MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch NCIT:C3655 Middle Ear Cholesterol Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle ear cholesterol granuloma MONDO:0001142 salivary gland disorder skos:closeMatch NCIT:C27662 Non-Neoplastic Salivary Gland Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic salivary gland disorder semapv:RegularExpressionReplacement MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10CM:H49.8 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement -MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10WHO:H49.8 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10CM:H49.88 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement +MONDO:0001143 paralytic strabismus skos:narrowMatch ICD10WHO:H49.8 Other paralytic strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym paralytic strabismus semapv:RegularExpressionReplacement MONDO:0001147 meningocele skos:closeMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinal meningocele MONDO:0001150 hydrocephalus skos:narrowMatch ICD10WHO:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement -MONDO:0001150 hydrocephalus skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0001150 hydrocephalus skos:narrowMatch ICD10CM:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement -MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign essential hypertension +MONDO:0001150 hydrocephalus skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign essential hypertension +MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign essential hypertension +MONDO:0001152 amnestic disorder skos:exactMatch NCIT:C2867 Amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amnesia MONDO:0001152 amnestic disorder skos:narrowMatch ICD10CM:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement MONDO:0001152 amnestic disorder skos:narrowMatch ICD10WHO:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement -MONDO:0001152 amnestic disorder skos:exactMatch NCIT:C2867 Amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amnesia -MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue disorder -MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tongue disorder semapv:RegularExpressionReplacement MONDO:0001170 hemiplegia skos:exactMatch NCIT:C64329 Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C126462 Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess -MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis +MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001179 pinguecula skos:exactMatch NCIT:C129468 Pinguecula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinguecula MONDO:0001198 acquired thrombocytopenia skos:narrowMatch ICD10CM:D69.59 Other secondary thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary thrombocytopenia semapv:RegularExpressionReplacement -MONDO:0001200 secondary hypertension skos:narrowMatch ICD10CM:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement MONDO:0001200 secondary hypertension skos:exactMatch NCIT:C3657 Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension MONDO:0001200 secondary hypertension skos:narrowMatch ICD10WHO:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement +MONDO:0001200 secondary hypertension skos:narrowMatch ICD10CM:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enophthalmos MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10WHO:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10CM:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001216 pulp degeneration skos:exactMatch NCIT:C34962 Pulp Degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration -MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10WHO:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10CM:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement +MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10WHO:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NCIT:C131658 Consumptive Coagulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label consumptive coagulopathy +MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flea-borne typhus MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label endemic typhus fever -MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine typhus MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334533 MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 MONDO:0001260 cercarial dermatitis skos:exactMatch NCIT:C34457 Cutaneous Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous schistosomiasis -MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession +MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession MONDO:0001273 megacolon skos:narrowMatch ICD10CM:K59.39 Other megacolon semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym megacolon semapv:RegularExpressionReplacement MONDO:0001275 spinal meningioma skos:exactMatch NCIT:C5134 Spinal Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal meningioma -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008526 MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 +MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008526 +MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 +MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis MONDO:0001280 choroiditis skos:closeMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis -MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosalpingiosis MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endosalpingiosis +MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosalpingiosis MONDO:0001292 autonomic nervous system disorder skos:closeMatch NCIT:C53439 Dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dysautonomia MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:narrowMatch ICD10CM:G90.09 Other idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic peripheral autonomic neuropathy semapv:RegularExpressionReplacement MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NCIT:C50888 Mitral Valve Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve insufficiency MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001302 hypertensive heart disease skos:closeMatch NCIT:C4907 Hypertensive Cardiomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertensive cardiomegaly -MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10CM:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement +MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10WHO:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement +MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10CM:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement MONDO:0001315 neurocirculatory asthenia skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurocirculatory asthenia MONDO:0001323 infant gynecomastia skos:exactMatch NCIT:C117312 Breast Engorgement in Newborn semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast engorgement in newborn -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C131816 Generalized Thyroid Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized thyroid hormone resistance -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyroid stimulating hormone -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh resistance MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyroid stimulating hormone +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C131816 Generalized Thyroid Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized thyroid hormone resistance MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid hormone resistance syndrome +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh resistance +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0001336 familial hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 MONDO:0001339 portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001383 degenerative myopia skos:exactMatch NCIT:C157149 Pathological Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pathological myopia MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopia MONDO:0001384 myopia skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027092 MONDO:0001406 peripheral nervous system neoplasm skos:closeMatch NCIT:C4972 Nerve Sheath Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nerve sheath neoplasm -MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute esophagitis +MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001414 osteopoikilosis skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata MONDO:0001422 primary aldosteronism skos:narrowMatch ICD10CM:E26.09 Other primary hyperaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0001441 pica disease skos:exactMatch NCIT:C71234 Pica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pica +MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001935 MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041234 -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thygeson superficial punctate keratitis MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement -MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutropenia +MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia MONDO:0001476 coloboma skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula -MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym coloboma of macula MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula +MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym coloboma of macula MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis MONDO:0001515 corneal degeneration skos:narrowMatch ICD10CM:H18.49 Other corneal degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym corneal degeneration semapv:RegularExpressionReplacement @@ -406,25 +391,25 @@ MONDO:0001540 bagassosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:L MONDO:0001553 phacolytic glaucoma skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 MONDO:0001556 urethral obstruction skos:exactMatch NCIT:C79804 Urethral Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urethral obstruction MONDO:0001556 urethral obstruction skos:exactMatch NCIT:C79804 Urethral Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral obstruction -MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10CM:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10WHO:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement +MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10CM:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyloric stenosis, infantile MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 +MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hurler syndrome -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NCIT:C61261 Hurler Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NCIT:C61261 Hurler Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hurler syndrome +MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 +MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chorea, benign hereditary -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chorea, benign hereditary MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary progressive chorea without dementia -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 +MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chorea, benign hereditary MONDO:0001596 hypochondriasis skos:exactMatch NCIT:C9493 Hypochondriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondriasis MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:closeMatch NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoepithelial lesion of the salivary gland MONDO:0001600 mucocele of salivary gland skos:exactMatch NCIT:C27649 Salivary Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary cyst @@ -432,34 +417,34 @@ MONDO:0001609 agranulocytosis skos:exactMatch NCIT:C107102 Agranulocytosis semap MONDO:0001625 corpus luteum cyst skos:exactMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst MONDO:0001639 deficiency anemia skos:closeMatch Orphanet:248293 Rare deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041782 MONDO:0001646 benign secondary hypertension skos:exactMatch NCIT:C3658 Benign Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign secondary hypertension -MONDO:0001657 brain cancer skos:closeMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary brain neoplasm MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm +MONDO:0001657 brain cancer skos:closeMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary brain neoplasm MONDO:0001658 nontoxic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym euthyroid goiter MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 +MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria MONDO:0001684 exocrine pancreatic insufficiency skos:closeMatch NCIT:C84316 Pancreatic Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic insufficiency MONDO:0001698 tinea profunda skos:closeMatch NCIT:C35073 Deep Seated Dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deep seated dermatophytosis MONDO:0001703 color vision disorder skos:closeMatch NCIT:C3891 Color Blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label color blindness MONDO:0001705 pure red-cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare constitutional aplastic anemia MONDO:0001713 inherited aplastic anemia skos:narrowMatch ICD10CM:D61.09 Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym constitutional aplastic anemia semapv:RegularExpressionReplacement -MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement -MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis complex +MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberose sclerosis MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045138 MONDO:0001734 tuberous sclerosis skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001741 hyperparathyroidism skos:closeMatch Orphanet:181408 Rare hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020502 MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001744 angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angle closure glaucoma MONDO:0001751 cholestasis skos:exactMatch NCIT:C83006 Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis MONDO:0001776 prostate calculus skos:exactMatch NCIT:C26936 Prostatic Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic stone @@ -475,86 +460,79 @@ MONDO:0001875 epicondylitis skos:exactMatch NCIT:C35067 Lateral Epicondylitis se MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10CM:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10WHO:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001898 optic choroid disorder skos:closeMatch NCIT:C34468 Choroid Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid disorder semapv:RegularExpressionReplacement -MONDO:0001901 selective IgG subclass deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency MONDO:0001901 selective IgG subclass deficiency skos:closeMatch NCIT:C27142 Selective IgG Immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label selective igg immunodeficiency +MONDO:0001901 selective IgG subclass deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency MONDO:0001907 adult dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis MONDO:0001909 renal tubular acidosis skos:exactMatch NCIT:C28129 Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular acidosis MONDO:0001911 tracheal calcification skos:exactMatch NCIT:C35314 Tracheal Calcification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal calcification MONDO:0001913 oligospermia skos:exactMatch NCIT:C34860 Oligospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligospermia -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0001941 blindness (disorder) skos:closeMatch NCIT:C97109 Blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blindness MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030568 MONDO:0001952 parietal lobe cancer skos:closeMatch NCIT:C5573 Parietal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal lobe neoplasm -MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyuria MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyuria -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 +MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyuria MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343084 +MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016221 MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015634 -MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sphingomyelin lipidosis -MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary pulmonary hypertension MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension -MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keller syndrome -MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fg syndrome +MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary pulmonary hypertension MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome -MONDO:0002010 FG syndrome skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label opitz-kaveggia syndrome +MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fg syndrome +MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keller syndrome MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum +MONDO:0002010 FG syndrome skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002012 methylmalonic acidemia skos:closeMatch NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency -MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wadia-swami syndrome -MONDO:0002021 gingival disorder skos:exactMatch NCIT:C173795 Gingival Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival disorder MONDO:0002026 candidiasis skos:closeMatch NCIT:C116812 Disseminated Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label disseminated candidiasis MONDO:0002037 pleural disorder skos:closeMatch NCIT:C27563 Non-Neoplastic Pleural Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic pleural disorder semapv:RegularExpressionReplacement MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma MONDO:0002039 cognitive disorder skos:closeMatch NCIT:C34870 Organic Mental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic mental disorder MONDO:0002041 fungal infectious disease skos:closeMatch NCIT:C3245 Fungal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fungal infection +MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcoholism -MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence -MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcohol abuse MONDO:0002046 alcohol abuse skos:closeMatch NCIT:C93040 Alcohol Dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence +MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcohol abuse MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002050 depressive disorder skos:exactMatch NCIT:C124639 Depression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label depression -MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis -MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor +MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis MONDO:0002073 malignant pineal area germ cell neoplasm skos:closeMatch NCIT:C8712 Pineal Region Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal region germinoma -MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement -MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement +MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002081 musculoskeletal system disorder skos:closeMatch NCIT:C107377 Musculoskeletal Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label musculoskeletal disorder MONDO:0002087 peritoneum cancer skos:closeMatch NCIT:C3322 Peritoneal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peritoneal neoplasm MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 MONDO:0002113 peritoneal carcinoma skos:closeMatch NCIT:C40022 Primary Peritoneal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma MONDO:0002113 peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma -MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ossifying fibroma -MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossifying fibroma MONDO:0002125 status epilepticus skos:narrowMatch ICD10WHO:G41.8 Other status epilepticus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym status epilepticus semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture -MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urethral stricture -MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant skull neoplasm MONDO:0002135 optic nerve disorder skos:exactMatch NCIT:C118711 Optic Neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic neuropathy MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025552 @@ -562,10 +540,10 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051677 MONDO:0002143 vaginal yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0002143 vaginal yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor -MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C45908 Intersex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intersex +MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070597 MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070597 +MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C45908 Intersex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intersex MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35578 Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acalculous cholecystitis MONDO:0002155 cholecystitis skos:narrowMatch ICD10WHO:K81.8 Other cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholecystitis semapv:RegularExpressionReplacement MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis @@ -581,32 +559,32 @@ MONDO:0002211 B cell deficiency skos:closeMatch NCIT:C27141 Immunoglobulin Heavy MONDO:0002211 B cell deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deficiency MONDO:0002218 temporal lobe cancer skos:closeMatch NCIT:C5567 Temporal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temporal lobe neoplasm MONDO:0002241 factor XIII deficiency skos:exactMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor xiii deficiency -MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002244 factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015503 MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor vii deficiency MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor vii deficiency -MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002249 thrombocytosis disease skos:closeMatch NCIT:C35530 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis MONDO:0002251 hepatitis skos:closeMatch NCIT:C35331 Acute Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatitis MONDO:0002251 hepatitis skos:closeMatch NCIT:C82978 Chronic Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic hepatitis +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosis MONDO:0002258 pharyngitis skos:exactMatch NCIT:C50747 Sore Throat semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sore throat MONDO:0002258 pharyngitis skos:closeMatch NCIT:C34355 Acute Pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pharyngitis MONDO:0002260 hidradenitis skos:exactMatch NCIT:C112190 Hidradenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis -MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma +MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma MONDO:0002278 benign colon neoplasm skos:exactMatch NCIT:C37904 Colonic Mass semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colonic mass MONDO:0002287 glandular cystitis skos:closeMatch NCIT:C39860 Cystitis Glandularis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystitis glandularis MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154841 -MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.69 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002305 thrombophilia skos:narrowMatch ICD10WHO:D68.6 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement +MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.69 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002305 thrombophilia skos:narrowMatch ICD10CM:D68.6 Other thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombophilia semapv:RegularExpressionReplacement MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic inflammatory demyelinating polyneuropathy MONDO:0002341 granulomatous angiitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 @@ -615,58 +593,58 @@ MONDO:0002350 familial nephrotic syndrome skos:exactMatch Orphanet:564127 Geneti MONDO:0002356 pancreas disorder skos:closeMatch NCIT:C26842 Pancreatic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic disorder semapv:RegularExpressionReplacement MONDO:0002368 papillary serous cystadenocarcinoma skos:closeMatch NCIT:C6882 Micropapillary Serous Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label micropapillary serous carcinoma MONDO:0002370 ovarian Brenner tumor skos:closeMatch NCIT:C4746 Benign Ovarian Brenner Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign ovarian brenner tumor -MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 +MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0002378 dermoid cyst skos:exactMatch NCIT:C25723 Dermoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermoid MONDO:0002380 myoepithelial tumor skos:closeMatch NCIT:C7442 Benign Myoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign myoepithelioma -MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lias MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lias +MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lias MONDO:0002405 hepatic vascular disorder skos:closeMatch Orphanet:101938 Rare vascular liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0400923 MONDO:0002406 dermatitis skos:narrowMatch ICD10WHO:L30 Other dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatitis semapv:RegularExpressionReplacement MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile hemangioma -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018464 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 +MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367554 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2350236 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 -MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 +MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruxism +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bruxism -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 +MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruxism MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265241 -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 -MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tay syndrome +MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0002473 cystic kidney disease skos:exactMatch NCIT:C3970 Kidney Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney cyst MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020501 MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020703 @@ -675,69 +653,65 @@ MONDO:0002477 prostate neuroendocrine neoplasm skos:closeMatch NCIT:C158912 Pros MONDO:0002479 Sertoli-Leydig cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C175610 Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast neuroendocrine tumor MONDO:0002491 substance abuse skos:exactMatch NCIT:C18272 Substance Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label substance abuse -MONDO:0002492 acute kidney failure skos:narrowMatch ICD10CM:N17.8 Other acute kidney failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute kidney failure semapv:RegularExpressionReplacement MONDO:0002492 acute kidney failure skos:narrowMatch ICD10WHO:N17.8 Other acute renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute renal failure semapv:RegularExpressionReplacement +MONDO:0002492 acute kidney failure skos:narrowMatch ICD10CM:N17.8 Other acute kidney failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute kidney failure semapv:RegularExpressionReplacement MONDO:0002508 gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic gingivitis MONDO:0002512 papillary adenocarcinoma skos:closeMatch NCIT:C7438 Infiltrating Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating papillary adenocarcinoma MONDO:0002519 anus disorder skos:closeMatch NCIT:C79536 Anal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal ulcer -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria MONDO:0002520 hepatic porphyria skos:closeMatch NCIT:C133887 Acute Hepatic Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria -MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porphobilinogen synthase deficiency MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alad deficiency -MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tenosynovial giant cell tumor +MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria +MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porphobilinogen synthase deficiency MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor +MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tenosynovial giant cell tumor MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154251 MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061227 MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch NCIT:C117115 Fatty Acid Metabolism Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatty acid metabolism disorder MONDO:0002531 skin neoplasm skos:closeMatch NCIT:C12470 Skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin MONDO:0002533 papillary adenoma skos:closeMatch NCIT:C6880 Glandular Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glandular papilloma MONDO:0002543 adult oligodendroglioma skos:closeMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult brain oligodendroglioma -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029235 -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027809 MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 +MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027809 +MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029235 MONDO:0002552 vascular myelopathy skos:narrowMatch ICD10CM:G95.19 Other vascular myelopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular myelopathies semapv:RegularExpressionReplacement MONDO:0002565 myelitis skos:narrowMatch ICD10CM:G04.89 Other myelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myelitis semapv:RegularExpressionReplacement -MONDO:0002568 tracheal stenosis skos:exactMatch NCIT:C78646 Tracheal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal stenosis -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036685 MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 +MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036685 MONDO:0002572 aspiration pneumonitis skos:closeMatch NCIT:C35316 Chemical Pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chemical pneumonitis MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266091 +MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 -MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 -MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purpura MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purpura +MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purpura MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031291 MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259500 -MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002653 Paget disease of the penis skos:exactMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile adenocarcinoma +MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma of the penis MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002675 neurofibrosarcoma skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibrosarcoma -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral infarction -MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral infarction MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral infarction +MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral infarction MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266176 -MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label superior mesenteric artery syndrome MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome -MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome MONDO:0002688 duodenal obstruction skos:exactMatch NCIT:C79548 Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction +MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer MONDO:0002691 liver cancer skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 -MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer MONDO:0002696 Sertoli cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:424500 MONDO:0002720 sella turcica neoplasm skos:closeMatch OMIM:607912 SELENOT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selt @@ -747,10 +721,10 @@ MONDO:0002726 cutaneous solitary mastocytoma skos:closeMatch Orphanet:79455 Cuta MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhabdoid tumor MONDO:0002728 rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhabdoid tumor MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018335 -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206743 MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018335 -MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10CM:H65.19 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement +MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206743 MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10WHO:H65.1 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement +MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10CM:H65.19 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement MONDO:0002738 acute transudative otitis media skos:narrowMatch ICD10CM:H65.1 Other acute nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acute nonsuppurative otitis media semapv:RegularExpressionReplacement MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051938 MONDO:0002769 leukorrhea skos:exactMatch NCIT:C34775 Leukorrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukorrhea @@ -760,13 +734,13 @@ MONDO:0002782 cranial nerve palsy skos:closeMatch NCIT:C182261 Other Cranial Ner MONDO:0002786 diencephalic cancer skos:closeMatch NCIT:C5125 Diencephalic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diencephalic neoplasm MONDO:0002804 apocrine adenoma skos:closeMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tubular apocrine adenoma MONDO:0002805 hidradenoma skos:closeMatch NCIT:C7560 Sweat Gland Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sweat gland adenoma -MONDO:0002815 acute myocarditis skos:narrowMatch ICD10CM:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement MONDO:0002815 acute myocarditis skos:narrowMatch ICD10WHO:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement -MONDO:0002822 trabecular adenocarcinoma skos:closeMatch NCIT:C9231 Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label merkel cell carcinoma +MONDO:0002815 acute myocarditis skos:narrowMatch ICD10CM:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement MONDO:0002822 trabecular adenocarcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merkel cell carcinoma +MONDO:0002822 trabecular adenocarcinoma skos:closeMatch NCIT:C9231 Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label merkel cell carcinoma MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:closeMatch NCIT:C68611 Sinonasal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sinonasal squamous cell carcinoma -MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma +MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C135212 Colon Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colon neuroendocrine tumor @@ -780,32 +754,30 @@ MONDO:0002914 childhood brain stem neoplasm skos:exactMatch NCIT:C4869 Brain Ste MONDO:0002917 disorder of pilosebaceous unit skos:closeMatch NCIT:C34656 Hair Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hair disorder semapv:RegularExpressionReplacement MONDO:0002921 congenital structural myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label centronuclear myopathy MONDO:0002926 clear cell sarcoma skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 -MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C8975 Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C3730 Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor MONDO:0002954 superficial multifocal basal cell carcinoma skos:closeMatch NCIT:C62284 Superficial Basal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label superficial basal cell carcinoma MONDO:0002965 parovarian cyst skos:closeMatch NCIT:C97063 Paratubal Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratubal cyst MONDO:0002968 lymphocele skos:exactMatch NCIT:C78442 Lymphocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocele MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 -MONDO:0002999 central nervous system germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system MONDO:0002999 central nervous system germinoma skos:closeMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial germinoma -MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seminoma +MONDO:0002999 central nervous system germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma +MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seminoma MONDO:0003004 macular degeneration skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macular degeneration +MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.89 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement +MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10WHO:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement -MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism -MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.89 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential -MONDO:0003019 potassium deficiency disease skos:closeMatch NCIT:C34939 Potassium Deficiency Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label potassium deficiency disorder +MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential MONDO:0003019 potassium deficiency disease skos:exactMatch NCIT:C37974 Hypokalemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypokalemia -MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysgraphia -MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysgraphia +MONDO:0003019 potassium deficiency disease skos:closeMatch NCIT:C34939 Potassium Deficiency Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label potassium deficiency disorder MONDO:0003039 nominal aphasia skos:exactMatch NCIT:C34386 Anomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anomia MONDO:0003040 retrograde amnesia skos:exactMatch NCIT:C34372 Retrograde Amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia -MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer +MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:101941 Rare biliary tract disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 MONDO:0003085 keratitis skos:narrowMatch ICD10CM:H16.8 Other keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratitis semapv:RegularExpressionReplacement @@ -817,12 +789,9 @@ MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch NCIT:C4290 Mixed MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch NCIT:C6347 Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular mixed germ cell tumor MONDO:0003130 mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018201 MONDO:0003130 mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018201 -MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C2874 Angiokeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334596 MONDO:0003182 anterior horn disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 MONDO:0003182 anterior horn disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 -MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary gland type cancer of the breast -MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym salivary gland type carcinoma of the breast MONDO:0003195 peritoneal serous adenocarcinoma skos:closeMatch NCIT:C40023 Primary Peritoneal Serous Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal serous adenocarcinoma MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278803 MONDO:0003220 gallbladder carcinoma skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 @@ -831,9 +800,9 @@ MONDO:0003233 essential tremor skos:exactMatch NCIT:C182453 Essential Tremor sem MONDO:0003240 thyroid gland disorder skos:closeMatch Orphanet:101955 Rare thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040128 MONDO:0003261 papillary meningioma of the cerebellum skos:closeMatch NCIT:C5270 Cerebellar Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar papillary meningioma MONDO:0003262 rhabdoid meningioma skos:closeMatch NCIT:C3904 Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillary meningioma +MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cyst MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian cyst MONDO:0003282 ovarian cyst skos:closeMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus luteum cyst -MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cyst MONDO:0003307 multiple mucosal neuroma skos:closeMatch NCIT:C6559 Multiple Mucosal Neuromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mucosal neuromas MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleural mesothelioma MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma @@ -847,11 +816,11 @@ MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0920305 MONDO:0003393 thymus gland disorder skos:closeMatch NCIT:C26962 Thymus Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymus disorder MONDO:0003400 childhood endodermal sinus tumor skos:closeMatch NCIT:C27364 Childhood Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood yolk sac tumor -MONDO:0003402 testicular yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0003402 testicular yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor +MONDO:0003402 testicular yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor +MONDO:0003406 sleep-wake disorder skos:closeMatch OMIM:612975 short sleep, familial natural, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short sleep phenotype MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 -MONDO:0003406 sleep-wake disorder skos:closeMatch OMIM:612975 short sleep, familial natural, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short sleep phenotype MONDO:0003406 sleep-wake disorder skos:closeMatch NCIT:C3376 Sleep Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sleep disorder MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oncocytoma MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oncocytoma @@ -861,8 +830,8 @@ MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:Le MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement -MONDO:0003441 dystonic disorder skos:narrowMatch ICD10WHO:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement MONDO:0003441 dystonic disorder skos:narrowMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement +MONDO:0003441 dystonic disorder skos:narrowMatch ICD10WHO:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma with squamous metaplasia MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch NCIT:C27084 Spindle Cell Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spindle cell squamous cell carcinoma MONDO:0003504 anal canal neuroendocrine neoplasm skos:closeMatch NCIT:C96540 Anal Canal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal canal neuroendocrine tumor @@ -871,16 +840,16 @@ MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch Orphanet:91 MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NCIT:C65188 Malignant Gastrinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant gastrinoma MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 -MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary eccrine adenoma MONDO:0003531 papillary eccrine carcinoma skos:closeMatch NCIT:C27534 Digital Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital papillary adenocarcinoma MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma +MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary eccrine adenoma MONDO:0003532 breast papillary carcinoma skos:closeMatch NCIT:C6870 Breast Solid Papillary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label breast solid papillary carcinoma MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym precursor lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C3183 T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t acute lymphoblastic leukemia MONDO:0003540 acute T cell leukemia skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 MONDO:0003544 spinal cord cancer skos:closeMatch NCIT:C168693 Spinal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal neoplasm -MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma +MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0677776 MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual cortex disorder MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder semapv:RegularExpressionReplacement @@ -905,29 +874,29 @@ MONDO:0003735 central nervous system immature teratoma skos:closeMatch NCIT:C428 MONDO:0003749 esophageal disorder skos:closeMatch NCIT:C26950 Esophageal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal ulcer MONDO:0003761 leptomeningeal melanoma skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant melanoma of meninges MONDO:0003766 thalamic cancer skos:closeMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thalamic neoplasm -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 +MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immune deficiency disorder semapv:RegularExpressionReplacement MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency disorder semapv:RegularExpressionReplacement MONDO:0003778 inborn error of immunity skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome MONDO:0003781 bronchitis skos:closeMatch NCIT:C26722 Chronic Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic bronchitis MONDO:0003781 bronchitis skos:closeMatch NCIT:C26932 Acute Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute bronchitis -MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphopenia MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphopenia +MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphopenia MONDO:0003787 childhood testicular mixed germ cell cancer skos:closeMatch NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood testicular mixed germ cell tumor -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605074 MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0879257 +MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605074 MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed müllerian tumor of the ovary MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392998 +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0003805 malignant pericardial mesothelioma skos:closeMatch NCIT:C7632 Pericardial Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pericardial mesothelioma MONDO:0003820 mature ovarian teratoma skos:closeMatch NCIT:C9015 Mature Teratoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mature teratoma MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh-oma @@ -935,41 +904,41 @@ MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-s MONDO:0003878 malignant choroid melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346388 MONDO:0003878 malignant choroid melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal melanoma MONDO:0003892 acinar lung adenocarcinoma skos:closeMatch NCIT:C5649 Lung Acinar Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung acinar adenocarcinoma -MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9090 Medium/Large Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label medium/large size posterior uveal melanoma MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9089 Small Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label small size posterior uveal melanoma +MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9090 Medium/Large Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label medium/large size posterior uveal melanoma MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 MONDO:0003947 hyper-IgM syndrome skos:closeMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperimmunoglobulin m syndrome MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch NCIT:C7012 Central Nervous System Choriocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system choriocarcinoma MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch NCIT:C7752 Angiokeratoma of Fordyce semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma of fordyce -MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 +MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva MONDO:0003987 lung lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0003989 polyembryoma of the ovary skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyembryoma MONDO:0004026 skin tag skos:closeMatch NCIT:C3337 Fibroepithelial Polyp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibroepithelial polyp MONDO:0004035 glomangiomatosis skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomangiomatosis MONDO:0004041 urothelial papilloma skos:closeMatch OMIM:191840 PLAU semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upa -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 +MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome MONDO:0004063 intermediate cell type iris melanoma skos:closeMatch NCIT:C174506 Iris Mixed Cell Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris mixed cell melanoma -MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma +MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028361 MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028361 MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intramuscular lipoma MONDO:0004094 multiple skull base meningioma skos:closeMatch NCIT:C5279 Multiple Skull Base Meningiomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple skull base meningiomas MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell carcinoma of the bladder MONDO:0004127 lung occult adenocarcinoma skos:closeMatch NCIT:C6699 Occult Lung Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label occult lung adenocarcinoma -MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cloacogenic carcinoma MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cloacogenic carcinoma +MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cloacogenic carcinoma MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch NCIT:C7010 Central Nervous System Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system embryonal carcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma @@ -983,8 +952,8 @@ MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependy MONDO:0004253 intraductal breast papillomatosis skos:closeMatch NCIT:C5201 Breast Intraductal Papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast intraductal papillomatosis MONDO:0004255 Wolffian adnexal tumor skos:closeMatch NCIT:C40141 Wolffian Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolffian tumor MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system mixed germ cell tumor -MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements +MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335304 MONDO:0004288 scirrhous breast carcinoma skos:closeMatch NCIT:C7362 Breast Scirrhous Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast scirrhous carcinoma MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning neuroendocrine tumor of pancreas @@ -994,15 +963,15 @@ MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:closeMatch NCIT:C MONDO:0004473 epiglottis cancer skos:closeMatch NCIT:C35697 Epiglottic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epiglottic carcinoma MONDO:0004491 uterine corpus choriocarcinoma skos:closeMatch NCIT:C2948 Choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choriocarcinoma MONDO:0004512 meningeal melanomatosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptomeningeal melanomatosis -MONDO:0004522 peritonitis skos:narrowMatch ICD10CM:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004522 peritonitis skos:narrowMatch ICD10WHO:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement +MONDO:0004522 peritonitis skos:narrowMatch ICD10CM:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm -MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor +MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glassy cell carcinoma of the cervix uteri MONDO:0004565 intestinal obstruction skos:narrowMatch ICD10CM:K56.69 Other intestinal obstruction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intestinal obstruction semapv:RegularExpressionReplacement -MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal volvulus MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal volvulus +MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal volvulus MONDO:0004573 ariboflavinosis skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615026 MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch NCIT:C85221 Vitamin B6 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin b6 deficiency MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyhydramnios @@ -1021,8 +990,6 @@ MONDO:0004608 oropharynx cancer skos:closeMatch NCIT:C9105 Oropharyngeal Carcino MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma -MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vein disorder -MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vein disorder semapv:RegularExpressionReplacement MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement @@ -1030,23 +997,23 @@ MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular d MONDO:0004652 bacterial pneumonia skos:narrowMatch ICD10WHO:J15.8 Other bacterial pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial pneumonia semapv:RegularExpressionReplacement MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054651 MONDO:0004658 breast carcinoma in situ skos:narrowMatch ICD10WHO:D05.7 Other carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym carcinoma in situ of breast semapv:RegularExpressionReplacement -MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10WHO:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.49 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement +MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C12230 Hard Palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hard palate MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm MONDO:0004726 liver inflammatory myofibroblastic tumor skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory pseudotumor of the liver -MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116046 Central Sleep Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central sleep apnea -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep -MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116335 Central Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central apnea MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116335 Central Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central apnea +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central +MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116046 Central Sleep Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central sleep apnea MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep MONDO:0004737 homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cbs deficiency MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of urea cycle metabolism and ammonia detoxification MONDO:0004745 priapism skos:narrowMatch ICD10CM:N48.39 Other priapism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym priapism semapv:RegularExpressionReplacement @@ -1054,45 +1021,43 @@ MONDO:0004745 priapism skos:exactMatch NCIT:C85022 Priapism semapv:LexicalMatchi MONDO:0004753 mechanical strabismus skos:narrowMatch ICD10CM:H50.69 Other mechanical strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mechanical strabismus semapv:RegularExpressionReplacement MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rectal prolapse MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal prolapse -MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scotoma MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scotoma +MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scotoma MONDO:0004768 keratoconjunctivitis skos:narrowMatch ICD10CM:H16.29 Other keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratoconjunctivitis semapv:RegularExpressionReplacement MONDO:0004770 exophthalmos skos:exactMatch NCIT:C87114 Proptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proptosis -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis MONDO:0004773 iridocyclitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022073 +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis +MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lens-induced iridocyclitis -MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 -MONDO:0004785 blepharitis skos:narrowMatch ICD10WHO:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement +MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004785 blepharitis skos:narrowMatch ICD10CM:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement -MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement +MONDO:0004785 blepharitis skos:narrowMatch ICD10WHO:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement +MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement MONDO:0004790 fatty liver disease skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steatosis of liver MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement -MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement -MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label otitis externa -MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa +MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement -MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004796 infectious meningitis skos:closeMatch NCIT:C26828 Meningitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningitis MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic eosinophilic pneumonia MONDO:0004815 osteosclerotic plasma cell myeloma skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerotic myeloma MONDO:0004822 bronchiectasis skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polynesian bronchiectasis MONDO:0004826 urethral calculus skos:exactMatch NCIT:C26995 Urethral Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urethral stone -MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10WHO:N21.8 Other lower urinary tract calculus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lower urinary tract calculus semapv:RegularExpressionReplacement MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10CM:N21.8 Other lower urinary tract calculus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lower urinary tract calculus semapv:RegularExpressionReplacement +MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10WHO:N21.8 Other lower urinary tract calculus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lower urinary tract calculus semapv:RegularExpressionReplacement MONDO:0004842 stomatitis skos:narrowMatch ICD10CM:K12.39 Other oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym oral mucositis semapv:RegularExpressionReplacement MONDO:0004845 aphthous stomatitis skos:closeMatch NCIT:C62546 Canker Sore semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label canker sore MONDO:0004846 placental abruption skos:narrowMatch ICD10WHO:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement -MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8X Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement +MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004847 senile cataract skos:narrowMatch ICD10WHO:H25.8 Other senile cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym senile cataract semapv:RegularExpressionReplacement MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10WHO:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10CM:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement @@ -1100,330 +1065,328 @@ MONDO:0004854 ophthalmia neonatorum skos:closeMatch NCIT:C116816 Gonococcal Opht MONDO:0004872 hemorrhoid skos:narrowMatch ICD10CM:K64.8 Other hemorrhoids semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemorrhoids semapv:RegularExpressionReplacement MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis +MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis MONDO:0004890 partial central choroid dystrophy skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal dystrophy, central areolar MONDO:0004892 refractive error skos:exactMatch NCIT:C87145 Refractive Error semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractive error -MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10WHO:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement -MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement +MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement +MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10WHO:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002170 -MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym floppy mitral valve MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve prolapse syndrome +MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym floppy mitral valve MONDO:0004911 cardiovascular syphilis skos:narrowMatch ICD10CM:A52.09 Other cardiovascular syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cardiovascular syphilis semapv:RegularExpressionReplacement MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome MONDO:0004920 hydrocele skos:narrowMatch ICD10CM:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement MONDO:0004920 hydrocele skos:narrowMatch ICD10WHO:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement MONDO:0004926 dacryocystitis skos:closeMatch NCIT:C26971 Dacryoadenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dacryoadenitis -MONDO:0004927 dacryocystocele skos:exactMatch NCIT:C98968 Lacrimal Mucocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimal mucocele MONDO:0004927 dacryocystocele skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dacryocystocele +MONDO:0004927 dacryocystocele skos:exactMatch NCIT:C98968 Lacrimal Mucocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimal mucocele +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 -MONDO:0004946 hypoglycemia skos:narrowMatch ICD10WHO:E16.1 Other hypoglycaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypoglycaemia semapv:RegularExpressionReplacement MONDO:0004946 hypoglycemia skos:narrowMatch ICD10CM:E16.1 Other hypoglycemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoglycemia semapv:RegularExpressionReplacement -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 +MONDO:0004946 hypoglycemia skos:narrowMatch ICD10WHO:E16.1 Other hypoglycaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypoglycaemia semapv:RegularExpressionReplacement MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0855095 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic lymphocytic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphatic MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic lymphocytic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 MONDO:0004950 gastric carcinoma skos:closeMatch Orphanet:423771 Rare carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699791 -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired immunodeficiency syndrome, progression to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, susceptibility to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired immunodeficiency syndrome, progression to MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, resistance to -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to -MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0004952 Hodgkins lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 +MONDO:0004952 Hodgkins lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hodgkin lymphoma semapv:RegularExpressionReplacement +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959632 MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-all +MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement +MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label erosive gastritis MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement -MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement -MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label erosive gastritis MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C27094 Cylindroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindroma MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C3680 Cribriform Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cribriform carcinoma MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acinar cell adenoma -MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile and senile dementia MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile and senile dementia MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002736 MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002449 MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020981 -MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.998 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.99 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement +MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.998 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement MONDO:0004979 asthma skos:closeMatch NCIT:C26976 Chronic Obstructive Asthma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic obstructive asthma -MONDO:0004980 atopic eczema skos:exactMatch NCIT:C37910 Allergic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.89 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement +MONDO:0004980 atopic eczema skos:exactMatch NCIT:C37910 Allergic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic MONDO:0004980 atopic eczema skos:narrowMatch ICD10WHO:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement +MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis -MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34424 Bipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bipolar depression MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34424 Bipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bipolar depression MONDO:0004989 breast carcinoma skos:closeMatch Orphanet:180257 Rare malignant breast tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0678222 -MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym breast tumor luminal MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym luminal breast cancer +MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym breast tumor luminal MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 +MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007636 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878544 MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10CM:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement -MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement +MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007636 MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch NCIT:C62180 Cold semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cold -MONDO:0005003 chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatitis, chronic MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10WHO:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement +MONDO:0005003 chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatitis, chronic MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10CM:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005011 Crohn disease skos:exactMatch NCIT:C37262 Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym regional enteritis +MONDO:0005011 Crohn disease skos:exactMatch NCIT:C37262 Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis +MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005015 diabetes mellitus skos:closeMatch Orphanet:101952 Rare diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011849 -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007193 +MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 +MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dilated cardiomyopathy -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 MONDO:0005023 ductal breast carcinoma in situ skos:closeMatch NCIT:C2924 Breast Ductal Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast ductal carcinoma in situ MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement -MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement -MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement +MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement +MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 MONDO:0005028 esophageal adenocarcinoma skos:exactMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of esophagus MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040028 +MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017709 MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 MONDO:0005034 thyroid gland follicular carcinoma skos:closeMatch NCIT:C27380 Thyroid Gland Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label thyroid gland adenocarcinoma MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017708 MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206718 -MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor -MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement -MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement -MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005044 hypertensive disorder skos:closeMatch NCIT:C3117 Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension +MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial hypertrophic cardiomyopathy -MONDO:0005047 infertility disorder skos:closeMatch NCIT:C3836 Infertility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infertility MONDO:0005047 infertility disorder skos:exactMatch NCIT:C63385 Sterile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sterile +MONDO:0005047 infertility disorder skos:closeMatch NCIT:C3836 Infertility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infertility MONDO:0005047 infertility disorder skos:exactMatch NCIT:C63385 Sterile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sterile -MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement +MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement MONDO:0005053 ischemic disease skos:closeMatch NCIT:C34738 Ischemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ischemia -MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C14327 Human Herpesvirus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023284 MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C14327 Human Herpesvirus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023284 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023269 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024189 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 +MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 +MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 MONDO:0005061 lung adenocarcinoma skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of lung +MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025310 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024299 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 MONDO:0005063 medullary breast carcinoma skos:closeMatch NCIT:C9119 Breast Medullary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast medullary carcinoma +MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 -MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 +MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 +MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 +MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029260 -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 +MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005073 melanocytic nevus skos:exactMatch NCIT:C42539 Mole semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mole -MONDO:0005075 thyroid gland papillary carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238463 MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary carcinoma of thyroid -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 +MONDO:0005075 thyroid gland papillary carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238463 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043167 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036485 MONDO:0005081 preeclampsia skos:exactMatch NCIT:C4371 Gestational Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational hypertension -MONDO:0005083 psoriasis skos:narrowMatch ICD10WHO:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005083 psoriasis skos:narrowMatch ICD10CM:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement +MONDO:0005083 psoriasis skos:narrowMatch ICD10WHO:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pterygium of conjunctiva and cornea MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypernephroma -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067946 MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067946 +MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypernephroma +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:closeMatch OMIM:181500 schizophrenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia with or without an affective disorder -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1175175 -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 +MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061982 +MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 +MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1175175 MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis MONDO:0005093 skin disorder skos:closeMatch NCIT:C27554 Dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dermatosis +MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant hemangiopericytoma MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 -MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant hemangiopericytoma -MONDO:0005098 stroke disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction MONDO:0005098 stroke disorder skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrovascular accident +MONDO:0005098 stroke disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction MONDO:0005098 stroke disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral infarction MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subarachnoid hemorrhage MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subarachnoid hemorrhage MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042953 +MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement +MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative colitis -MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement -MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative colitis MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 MONDO:0005105 melanoma skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoma -MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomatosis, familial multiple +MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma +MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoma MONDO:0005106 lipoma skos:closeMatch NCIT:C4248 Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatous neoplasm MONDO:0005112 malignant pleural mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0812413 MONDO:0005113 bacterial infectious disease skos:closeMatch Orphanet:163582 Rare bacterial infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004623 -MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label temporal lobe epilepsy -MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporal lobe epilepsy MONDO:0005115 temporal lobe epilepsy skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842564 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930851 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 +MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023343 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023343 -MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement -MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005131 cervical carcinoma skos:closeMatch Orphanet:213761 Rare cancer of cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302592 -MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement -MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025487 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024530 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005139 morbid obesity skos:exactMatch NCIT:C34858 Morbid Obesity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morbid obesity +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diabetes mellitus, noninsulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin resistance, susceptibility to -MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes MONDO:0005149 pulmonary hypertension skos:exactMatch NCIT:C3120 Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label prostate cancer MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym prostate cancer -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27046 Ruptured Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured abdominal aortic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27198 Ruptured Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27198 Ruptured Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured aortic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27046 Ruptured Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured abdominal aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27299 Ruptured Thoracic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured thoracic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm +MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016057 MONDO:0005178 osteoarthritis skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoarthrosis MONDO:0005185 chronic childhood arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid arthritis MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 -MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 +MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0005192 exocrine pancreatic carcinoma skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235974 MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic carcinoma MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714644 MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346210 +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007196 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038748 -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial restrictive cardiomyopathy -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005202 atopic IgE-mediated allergic disorder skos:closeMatch NCIT:C41366 Atopy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atopy -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338113 MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039497 -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 +MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338113 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039022 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035412 -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma +MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 +MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522631 MONDO:0005240 kidney disorder skos:closeMatch NCIT:C34843 Nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement -MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement -MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement -MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement +MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement +MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement +MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005249 pneumonia skos:closeMatch NCIT:C27197 Acute Pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pneumonia MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement @@ -1438,52 +1401,49 @@ MONDO:0005260 autism skos:closeMatch OMIM:209850 autism semapv:LexicalMatching o MONDO:0005265 inflammatory bowel disease skos:closeMatch Orphanet:104012 Rare inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021390 MONDO:0005271 allergic disease skos:closeMatch NCIT:C3114 Hypersensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypersensitivity MONDO:0005271 allergic disease skos:narrowMatch ICD10CM:T78.49 Other allergy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergy semapv:RegularExpressionReplacement -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aregenerative anemia -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038269 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 MONDO:0005276 dental caries skos:narrowMatch ICD10WHO:K02.8 Other dental caries semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dental caries semapv:RegularExpressionReplacement -MONDO:0005277 migraine disorder skos:narrowMatch ICD10WHO:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement -MONDO:0005277 migraine disorder skos:narrowMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement MONDO:0005277 migraine disorder skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migraine +MONDO:0005277 migraine disorder skos:narrowMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement +MONDO:0005277 migraine disorder skos:narrowMatch ICD10WHO:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement MONDO:0005278 serous adenocarcinoma skos:closeMatch NCIT:C3778 Serous Cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serous cystadenocarcinoma MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024137 MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 -MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal disorder MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain aneurysm -MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm MONDO:0005291 brain aneurysm skos:closeMatch NCIT:C34458 Intracranial Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial aneurysm -MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C26884 Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep apnea +MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm MONDO:0005296 sleep apnea syndrome skos:narrowMatch ICD10CM:G47.39 Other sleep apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym sleep apnea semapv:RegularExpressionReplacement +MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C26884 Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep apnea MONDO:0005297 urethritis skos:exactMatch NCIT:C27079 Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis -MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement -MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement -MONDO:0005298 osteoporosis skos:exactMatch OMIM:611739 bone mineral density quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, involutional -MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fracture, hip, susceptibility to +MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement +MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005298 osteoporosis skos:narrowMatch ICD10WHO:M81.8 Other osteoporosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteoporosis semapv:RegularExpressionReplacement +MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, involutional +MONDO:0005298 osteoporosis skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to +MONDO:0005298 osteoporosis skos:exactMatch OMIM:611739 bone mineral density quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to MONDO:0005298 osteoporosis skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to +MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fracture, hip, susceptibility to MONDO:0005307 contracture skos:closeMatch NCIT:C75585 Muscle Contracture semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label muscle contracture MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376620 +MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0520459 -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NCIT:C165675 Relapsing-Remitting Multiple Sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing-remitting multiple sclerosis MONDO:0005319 humerus fracture skos:exactMatch NCIT:C26795 Humerus Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humerus fracture MONDO:0005320 tibia fracture skos:exactMatch NCIT:C99083 Tibia Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibia fracture MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fuchs endothelial corneal dystrophy MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016781 -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005325 radius fracture skos:exactMatch NCIT:C99039 Radius Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radius fracture MONDO:0005326 sunburn skos:narrowMatch ICD10WHO:L55.8 Other sunburn semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sunburn semapv:RegularExpressionReplacement MONDO:0005326 sunburn skos:exactMatch NCIT:C3395 Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn @@ -1491,32 +1451,30 @@ MONDO:0005327 hip fracture skos:exactMatch NCIT:C26794 Hip Fracture semapv:Lexic MONDO:0005333 hyperthyroxinemia skos:exactMatch NCIT:C131850 Hyperthyroxinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperthyroxinemia MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 +MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary open angle glaucoma MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glaucoma, primary open angle MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucoma, primary open angle -MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary open angle glaucoma MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym androgenetic alopecia MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androgenetic alopecia -MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement -MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement -MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C35280 Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis -MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertriglyceridemia +MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement +MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement +MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertriglyceridemia -MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertriglyceridemia MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label otosclerosis -MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis -MONDO:0005350 abdominal aortic aneurysm skos:exactMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal aortic aneurysm +MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005350 abdominal aortic aneurysm skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abdominal aortic aneurysm -MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary vasospasm +MONDO:0005350 abdominal aortic aneurysm skos:exactMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal aortic aneurysm MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary vasospasm +MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary vasospasm MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 @@ -1524,34 +1482,34 @@ MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Cr MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005361 eosinophilic esophagitis skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eoe MONDO:0005362 erectile dysfunction skos:closeMatch NCIT:C3133 Impotence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label impotence -MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C50576 Hearing Impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing impairment MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C27644 Deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness +MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C50576 Hearing Impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing impairment MONDO:0005365 hearing loss disorder skos:narrowMatch ICD10WHO:H91 Other hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hearing loss semapv:RegularExpressionReplacement MONDO:0005372 male infertility skos:closeMatch Orphanet:98048 Rare male infertility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021364 MONDO:0005372 male infertility skos:narrowMatch ICD10CM:N46.8 Other male infertility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym male infertility semapv:RegularExpressionReplacement -MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C35369 Neurotic Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurotic depression MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C34533 Reactive Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label reactive depression -MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement -MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C35369 Neurotic Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurotic depression MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005381 bone disorder skos:closeMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone disorder related to a common gene or pathway defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005385 vascular disorder skos:closeMatch Orphanet:68362 Rare vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042373 MONDO:0005386 peripheral arterial disease skos:closeMatch NCIT:C84496 Peripheral Artery Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral artery disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement -MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism +MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C80099 Premature Menopause semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature menopause -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008312 -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 +MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 +MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 +MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008312 MONDO:0005396 thoracic aortic aneurysm skos:exactMatch NCIT:C27001 Thoracic Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic aortic aneurysm MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym venous thromboembolism MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous thromboembolism -MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lymphoid leukemia semapv:RegularExpressionReplacement MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lymphoid leukemia semapv:RegularExpressionReplacement -MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm +MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lymphoid leukemia semapv:RegularExpressionReplacement MONDO:0005411 gallbladder cancer skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 +MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stress ulcer MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement @@ -1562,78 +1520,76 @@ MONDO:0005429 prion disease skos:exactMatch NCIT:C38853 Prion Disease Pathway se MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 -MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34768 Cutaneous Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis -MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of -MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 +MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of +MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041228 +MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001461 MONDO:0005461 endometrium adenocarcinoma skos:closeMatch NCIT:C6287 Endometrial Endometrioid Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial endometrioid adenocarcinoma -MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement +MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10WHO:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement -MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement -MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement MONDO:0005468 hypotensive disorder skos:exactMatch NCIT:C3128 Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension -MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orthostatic hypotension +MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement +MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension -MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chemotherapy-induced alopecia +MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orthostatic hypotension MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005486 tooth agenesis skos:exactMatch NCIT:C171426 Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adolescent idiopathic scoliosis -MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement +MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:closeMatch Orphanet:79384 Rare urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042109 -MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement +MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005496 bile duct carcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0740277 -MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone development disorder semapv:RegularExpressionReplacement MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone development disorder semapv:RegularExpressionReplacement +MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone development disorder semapv:RegularExpressionReplacement MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006041 +MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006057 MONDO:0005498 botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism MONDO:0005498 botulism skos:closeMatch NCIT:C128341 Foodborne Botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pmm2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rft1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg11-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg +MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii +MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii +MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mogs-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mgat2-cdg -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg -MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012310 -MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement -MONDO:0005504 diphtheria skos:narrowMatch ICD10CM:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement +MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 +MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013023 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012546 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 +MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement +MONDO:0005504 diphtheria skos:narrowMatch ICD10CM:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266177 -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary multiple exostoses MONDO:0005510 hydronephrosis skos:narrowMatch ICD10CM:N13.39 Other hydronephrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydronephrosis semapv:RegularExpressionReplacement MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056558 @@ -1641,23 +1597,23 @@ MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch NCIT:C7633 Perit MONDO:0005516 osteochondrodysplasia skos:closeMatch NCIT:C34466 Cartilage Development Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cartilage development disorder MONDO:0005517 pharynx cancer skos:exactMatch NCIT:C3325 Pharyngeal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pharyngeal neoplasm MONDO:0005520 rickets skos:closeMatch NCIT:C131447 Nutritional Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nutritional rickets +MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039614 -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 MONDO:0005526 tetanus skos:narrowMatch ICD10CM:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement MONDO:0005526 tetanus skos:narrowMatch ICD10WHO:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement MONDO:0005527 toxic encephalopathy skos:narrowMatch ICD10CM:G92.8 Other toxic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym toxic encephalopathy semapv:RegularExpressionReplacement MONDO:0005549 renal cell adenocarcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of kidney -MONDO:0005550 infectious disease skos:exactMatch NCIT:C128320 Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infection -MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection MONDO:0005550 infectious disease skos:exactMatch NCIT:C157825 Communicable Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label communicable disorder semapv:RegularExpressionReplacement +MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection +MONDO:0005550 infectious disease skos:exactMatch NCIT:C128320 Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infection MONDO:0005554 rheumatic disorder skos:closeMatch NCIT:C26729 Connective Tissue Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label connective tissue disorder semapv:RegularExpressionReplacement MONDO:0005560 brain disorder skos:closeMatch NCIT:C26920 Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label encephalopathy MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 +MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036051 -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 MONDO:0005575 colorectal cancer skos:closeMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colon cancer MONDO:0005578 arthritic joint disease skos:narrowMatch ICD10CM:M13 Other arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym arthritis semapv:RegularExpressionReplacement MONDO:0005578 arthritic joint disease skos:narrowMatch ICD10WHO:M13 Other arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym arthritis semapv:RegularExpressionReplacement @@ -1665,111 +1621,109 @@ MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 MONDO:0005586 head and neck neoplasm skos:closeMatch Orphanet:290849 Rare head and neck tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018671 MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodontitis, chronic MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label periodontitis, chronic +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035484 +MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041466 MONDO:0005623 autoimmune thyroid disease skos:closeMatch NCIT:C38766 Lymphocytic Thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic thyroiditis -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 +MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 +MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 MONDO:0005631 actinomycosis skos:closeMatch NCIT:C34349 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma MONDO:0005634 acute hemorrhagic conjunctivitis skos:closeMatch NCIT:C34509 Viral Conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral conjunctivitis MONDO:0005644 amebiasis skos:exactMatch NCIT:C157785 Amoebiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amoebiasis MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002831 +MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum -MONDO:0005649 appendicitis skos:narrowMatch ICD10CM:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005649 appendicitis skos:narrowMatch ICD10WHO:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 +MONDO:0005649 appendicitis skos:narrowMatch ICD10CM:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 +MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 -MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym piroplasmosis semapv:RegularExpressionReplacement -MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement +MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004576 +MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement +MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym piroplasmosis semapv:RegularExpressionReplacement MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003965 -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004080 +MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 +MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 +MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 -MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34428 Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoclastoma MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206638 MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006181 -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 +MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006309 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006309 +MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 MONDO:0005683 brucellosis skos:narrowMatch ICD10CM:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement MONDO:0005683 brucellosis skos:narrowMatch ICD10WHO:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007361 +MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 +MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007361 MONDO:0005699 cervicofacial actinomycosis skos:closeMatch NCIT:C34351 Cervicofacial Actinomycotic Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervicofacial actinomycotic infection MONDO:0005701 chlamydia trachomatis infectious disease skos:closeMatch NCIT:C76271 Chlamydia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chlamydia +MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009186 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010022 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009400 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 +MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266191 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545080 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266191 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235833 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010439 MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039131 -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010652 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040560 +MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010652 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 -MONDO:0005723 Cryptococcal meningitis skos:exactMatch NCIT:C174113 Cryptococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcal meningitis -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010414 +MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 +MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 MONDO:0005731 dipetalonemiasis skos:closeMatch NCIT:C119326 Mansonella perstans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mansonella perstans -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153065 MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014587 -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 +MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153065 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014071 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 -MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement -MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis +MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 +MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 +MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement MONDO:0005744 yolk sac tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endodermal sinus tumor MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048251 +MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016675 -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017409 MONDO:0005769 geniculate herpes zoster skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ramsay hunt syndrome @@ -1784,127 +1738,124 @@ MONDO:0005789 hepatitis D virus infection skos:exactMatch NCIT:C93324 Hepatitis MONDO:0005794 Herpesviridae infectious disease skos:exactMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label herpesvirus infection MONDO:0005794 Herpesviridae infectious disease skos:closeMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpesvirus infection MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343755 -MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hookworm infection MONDO:0005799 hookworm infectious disease skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hookworm infection +MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hookworm infection MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:closeMatch NCIT:C14223 HTLV-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020413 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 +MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 -MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia -MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia +MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolactinemia -MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia +MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperprolactinemia -MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10WHO:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement +MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10CM:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement +MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10WHO:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C44044 Mono semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mono -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 +MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interdigitating dendritic cell sarcoma MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of pancreas MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 +MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023927 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035718 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023240 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023240 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035718 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 +MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 MONDO:0005824 Legionnaires' disease skos:exactMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 -MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesterol pneumonia +MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 +MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pneumonia -MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes skos:closeMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoatrophic diabetes mellitus -MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesterol pneumonia MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 +MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoatrophic diabetes mellitus +MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 MONDO:0005833 lymphatic system disorder skos:closeMatch NCIT:C50764 Lymphadenopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphadenopathy -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 +MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024759 -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 +MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 +MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10CM:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10WHO:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393799 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049567 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 +MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393799 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 -MONDO:0005852 mitral valve stenosis skos:exactMatch NCIT:C50654 Mitral Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitral valve stenosis +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005866 mycobacterium avium complex disease skos:exactMatch NCIT:C76368 Mycobacterium avium complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mycobacterium avium complex MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015827 -MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029002 MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015827 -MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029002 MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligohydramnios +MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios MONDO:0005885 optic neuritis skos:narrowMatch ICD10CM:H46.8 Other optic neuritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym optic neuritis semapv:RegularExpressionReplacement MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine carcinoma of pancreas +MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061906 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030409 -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005915 pityriasis versicolor skos:closeMatch NCIT:C112833 Tinea Versicolor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea versicolor -MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta +MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032051 -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 +MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 MONDO:0005965 spinal stenosis skos:closeMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lumbar spinal stenosis -MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041736 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038034 +MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 +MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014060 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 +MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014060 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 MONDO:0005972 streptococcal pneumonia skos:exactMatch NCIT:C157959 Pneumococcal Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumococcal pneumonia -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085810 -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039984 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085810 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048627 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 -MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis +MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039984 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040553 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044269 @@ -1913,7 +1864,6 @@ MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:Le MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 -MONDO:0005997 tricuspid valve stenosis skos:exactMatch NCIT:C50783 Tricuspid Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid valve stenosis MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C124388 Schistosoma haematobium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosoma haematobium MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C35362 Bladder Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder schistosomiasis MONDO:0006003 uterine corpus cancer skos:closeMatch OMIM:608089 endometrial cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial cancer @@ -1923,26 +1873,26 @@ MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma s MONDO:0006007 vesicoureteral reflux skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vesicoureteral reflux MONDO:0006007 vesicoureteral reflux skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058805 -MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.89 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10WHO:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.89 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 +MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006021 Prinzmetal angina skos:exactMatch NCIT:C66915 Variant Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label variant angina MONDO:0006022 acidosis disorder skos:exactMatch NCIT:C83504 Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis MONDO:0006025 autosomal recessive disease skos:exactMatch NCIT:C85866 Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder semapv:RegularExpressionReplacement MONDO:0006030 chronic cystitis skos:narrowMatch ICD10CM:N30.2 Other chronic cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic cystitis semapv:RegularExpressionReplacement MONDO:0006030 chronic cystitis skos:narrowMatch ICD10WHO:N30.2 Other chronic cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic cystitis semapv:RegularExpressionReplacement -MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10WHO:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10CM:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement +MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10WHO:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement MONDO:0006032 cystitis skos:narrowMatch ICD10WHO:N30.8 Other cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cystitis semapv:RegularExpressionReplacement MONDO:0006032 cystitis skos:narrowMatch ICD10CM:N30.8 Other cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cystitis semapv:RegularExpressionReplacement MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma @@ -1950,11 +1900,11 @@ MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granu MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrolethalus MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931104 +MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 MONDO:0006040 lactic acidosis skos:exactMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactic acidosis -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast metaplastic carcinoma MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 +MONDO:0006043 metaplastic breast carcinoma skos:closeMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast metaplastic carcinoma MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clear cell adenocarcinoma of the ovary MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor @@ -1962,182 +1912,174 @@ MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:Lex MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wilms tumor MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 -MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal squamous cell carcinoma MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1314678 MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym askin tumor MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym askin tumor -MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor MONDO:0006097 atypical lipomatous tumor skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 +MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370507 MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid basal carcinoma MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:closeMatch NCIT:C188221 Cervical Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical neuroendocrine tumor MONDO:0006139 cervical metaplasia skos:exactMatch NCIT:C4056 Cervical Metaplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical metaplasia MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279671 -MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma +MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0006206 fallopian tube carcinoma skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238122 MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334287 -MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma +MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label somatotropic adenoma MONDO:0006241 hepatic granuloma skos:exactMatch NCIT:C4936 Hepatic Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic granuloma -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell tumor MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch NCIT:C43251 Histiocytic and Dendritic Cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell +MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell tumor MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydatidiform mole MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydatidiform mole +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064886 MONDO:0006270 lobular breast carcinoma in situ skos:closeMatch NCIT:C4018 Breast Lobular Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast lobular carcinoma in situ -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049459 -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027406 MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 -MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label asbestos-related malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027406 MONDO:0006306 mixed lobular and ductal breast carcinoma skos:closeMatch NCIT:C5160 Breast Mixed Ductal and Lobular Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast mixed ductal and lobular carcinoma MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006312 myofibroma skos:closeMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile hemangiopericytoma MONDO:0006323 non-seminomatous lesion skos:exactMatch NCIT:C36127 Non-Seminomatous Lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-seminomatous lesion -MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label esthesioneuroblastoma -MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma +MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma +MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346163 -MONDO:0006344 ovarian yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0006344 ovarian yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor -MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dupuytren contracture +MONDO:0006344 ovarian yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dupuytren contracture +MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dupuytren contracture MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279661 -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign multicystic peritoneal mesothelioma MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma +MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign multicystic peritoneal mesothelioma MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2986550 MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032000 MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035079 MONDO:0006405 salivary gland small cell carcinoma skos:closeMatch NCIT:C173653 Salivary Gland Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland neuroendocrine carcinoma MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063397 MONDO:0006427 spindle cell melanoma skos:closeMatch NCIT:C37257 Desmoplastic Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoplastic melanoma -MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061031 -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205969 +MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1322286 -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 +MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205969 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 MONDO:0006460 thyroglossal duct cyst skos:exactMatch NCIT:C85189 Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002240 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic osteoclastic giant cell tumor -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoclastic giant cell tumor of pancreas -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ogct of pancreas -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated carcinoma of pancreas with osteoclast-like giant cells -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic undifferentiated carcinoma with osteoclast-like giant cells -MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002240 MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma +MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma +MONDO:0006486 uveal melanoma skos:closeMatch NCIT:C9088 Iris Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iris melanoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal melanoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma -MONDO:0006486 uveal melanoma skos:closeMatch NCIT:C9088 Iris Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iris melanoma -MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vaginal squamous cell carcinoma -MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma MONDO:0006496 palsy skos:exactMatch NCIT:C116721 Palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palsy -MONDO:0006497 cerebral palsy skos:narrowMatch ICD10WHO:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement MONDO:0006497 cerebral palsy skos:narrowMatch ICD10CM:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement +MONDO:0006497 cerebral palsy skos:narrowMatch ICD10WHO:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement MONDO:0006502 acute respiratory distress syndrome skos:closeMatch NCIT:C155766 Acute Lung Injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006502 acute respiratory distress syndrome skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006507 hereditary hemochromatosis skos:exactMatch OMIM:235200 hemochromatosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemochromatosis, hereditary -MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10CM:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10WHO:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement +MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10CM:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement MONDO:0006516 sarcopenia skos:exactMatch NCIT:C186726 Sarcopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcopenia MONDO:0006517 childhood malignant neoplasm skos:closeMatch NCIT:C9305 Malignant Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant neoplasm MONDO:0006527 anhidrosis skos:exactMatch NCIT:C34385 Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis -MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital generalized lipodystrophy +MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006545 erythema multiforme skos:narrowMatch ICD10CM:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement +MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006545 erythema multiforme skos:narrowMatch ICD10WHO:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement +MONDO:0006545 erythema multiforme skos:narrowMatch ICD10CM:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement MONDO:0006546 erythematosquamous dermatosis skos:narrowMatch DOID:9097 erythematosquamous dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythematosquamous dermatosis semapv:RegularExpressionReplacement -MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthem MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exanthem +MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthem MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019343 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 -MONDO:0006559 hidradenitis suppurativa skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne inversa, familial MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidradenitis suppurativa +MONDO:0006559 hidradenitis suppurativa skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne inversa, familial MONDO:0006566 keratosis skos:exactMatch NCIT:C34747 Keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis -MONDO:0006572 lichen planus skos:closeMatch Orphanet:254367 Rare lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023646 MONDO:0006572 lichen planus skos:narrowMatch ICD10WHO:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement +MONDO:0006572 lichen planus skos:closeMatch Orphanet:254367 Rare lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023646 MONDO:0006572 lichen planus skos:narrowMatch ICD10CM:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006574 lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madelung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0006591 panniculitis skos:exactMatch NCIT:C112112 Panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panniculitis -MONDO:0006592 parapsoriasis skos:narrowMatch ICD10CM:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement MONDO:0006592 parapsoriasis skos:narrowMatch ICD10WHO:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement -MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.89 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement -MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement +MONDO:0006592 parapsoriasis skos:narrowMatch ICD10CM:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement MONDO:0006594 pemphigus skos:narrowMatch ICD10WHO:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement +MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement +MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.89 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement +MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036175 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162839 -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 -MONDO:0006604 rosacea skos:narrowMatch ICD10WHO:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement MONDO:0006604 rosacea skos:narrowMatch ICD10CM:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement +MONDO:0006604 rosacea skos:narrowMatch ICD10WHO:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement -MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10WHO:L21.8 Other seborrhoeic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrhoeic dermatitis semapv:RegularExpressionReplacement MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement +MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10WHO:L21.8 Other seborrhoeic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrhoeic dermatitis semapv:RegularExpressionReplacement MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042342 MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600336 -MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label subcorneal pustular dermatosis MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sneddon-wilkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory urticaria +MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label subcorneal pustular dermatosis MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria +MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory urticaria MONDO:0006618 vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria MONDO:0006633 acalculous cholecystitis skos:closeMatch NCIT:C35579 Acute Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute acalculous cholecystitis MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206686 MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001388 -MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism +MONDO:0006640 adrenal gland hyperfunction skos:exactMatch NCIT:C113208 Hypercortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercortisolemia MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperadrenocorticism MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 -MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperadrenocorticism -MONDO:0006640 adrenal gland hyperfunction skos:exactMatch NCIT:C113208 Hypercortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercortisolemia +MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism MONDO:0006644 alcoholic liver cirrhosis skos:closeMatch NCIT:C35532 Portal Cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label portal cirrhosis -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002709 MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042165 +MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002709 MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iridocyclitis MONDO:0006651 anterior uveitis skos:closeMatch NCIT:C34736 Iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iridocyclitis -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxic and ischemic brain injury in the newborn -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hypoxic and ischemic brain injury MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C50561 Fetal Asphyxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal asphyxia -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 +MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hypoxic and ischemic brain injury +MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxic and ischemic brain injury in the newborn MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003664 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 -MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003664 MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis +MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10WHO:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10CM:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement MONDO:0006682 brachial plexus neuritis skos:exactMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachial plexus neuritis @@ -2148,50 +2090,48 @@ MONDO:0006712 corneal edema skos:narrowMatch ICD10WHO:H18.2 Other corneal oedema MONDO:0006712 corneal edema skos:exactMatch NCIT:C50508 Corneal Edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal edema MONDO:0006714 coronary aneurysm skos:closeMatch NCIT:C168176 Coronary Artery Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coronary artery aneurysm MONDO:0006715 coronary stenosis skos:exactMatch NCIT:C80427 Coronary Artery Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary artery stenosis -MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic fibroma MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm -MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic eventration -MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diaphragmatic eventration +MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic fibroma MONDO:0006738 eccrine acrospiroma skos:closeMatch NCIT:C7563 Hidradenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenoma MONDO:0006742 endemic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simple goiter -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206630 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 +MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 +MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 MONDO:0006757 extrahepatic cholestasis skos:exactMatch NCIT:C34420 Extrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic cholestasis MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroparesis MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroparesis MONDO:0006770 giant cell reparative granuloma skos:exactMatch NCIT:C173930 Central Giant Cell Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central giant cell granuloma MONDO:0006771 glossitis skos:exactMatch NCIT:C112199 Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis -MONDO:0006778 halo nevus skos:closeMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoderma acquisitum centrifugum of sutton -MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halo nevi MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label halo nevi -MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicobacter pylori infection, susceptibility to +MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halo nevi +MONDO:0006778 halo nevus skos:closeMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoderma acquisitum centrifugum of sutton MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helicobacter pylori infection, susceptibility to +MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicobacter pylori infection, susceptibility to MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 +MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym budd-chiari syndrome +MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 -MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome -MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym budd-chiari syndrome MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C2972 Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystadenoma MONDO:0006789 hyperamylasemia skos:exactMatch NCIT:C113755 Hyperamylasemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperamylasemia -MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperemesis gravidarum MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperemesis gravidarum +MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperemesis gravidarum MONDO:0006805 intermediate coronary syndrome skos:exactMatch NCIT:C66911 Unstable Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label unstable angina +MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022557 +MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 +MONDO:0006806 intermediate uveitis skos:closeMatch NCIT:C34903 Pars Planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pars planitis MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis -MONDO:0006806 intermediate uveitis skos:closeMatch NCIT:C34903 Pars Planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022557 MONDO:0006810 intracranial hypertension skos:exactMatch NCIT:C84791 Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension MONDO:0006811 intracranial hypotension skos:narrowMatch ICD10CM:G96.819 Other intracranial hypotension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intracranial hypotension semapv:RegularExpressionReplacement MONDO:0006823 Klinefelter syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0006823 Klinefelter syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0006823 Klinefelter syndrome skos:closeMatch NCIT:C113347 Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadotropic hypogonadism MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022802 -MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C35123 Vertebral Artery Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral artery syndrome MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C84807 Lateral Medullary Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lateral medullary syndrome +MONDO:0006827 lateral medullary syndrome skos:closeMatch NCIT:C35123 Vertebral Artery Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral artery syndrome MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal midline granuloma MONDO:0006829 leukemoid reaction skos:exactMatch NCIT:C3185 Leukemoid Reaction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukemoid reaction MONDO:0006831 leukostasis skos:exactMatch NCIT:C4062 Leukostasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukostasis @@ -2199,357 +2139,350 @@ MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome wi MONDO:0006840 lymphangiectasis skos:closeMatch NCIT:C97087 Lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia MONDO:0006846 malignant hypertension skos:exactMatch NCIT:C3118 Malignant Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hypertension MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma +MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 MONDO:0006861 myeloid sarcoma skos:closeMatch NCIT:C35815 Granulocytic Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulocytic sarcoma +MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma +MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 -MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis +MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis MONDO:0006874 obstructive jaundice skos:exactMatch NCIT:C34742 Obstructive Jaundice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive jaundice MONDO:0006875 ocular hypertension skos:exactMatch NCIT:C3285 Ocular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension -MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parathyroid gland adenoma -MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parathyroid gland adenoma MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032001 -MONDO:0006909 pituitary dwarfism skos:exactMatch NCIT:C34555 Pituitary Dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dwarfism +MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 +MONDO:0006909 pituitary dwarfism skos:exactMatch NCIT:C34555 Pituitary Dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dwarfism +MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 -MONDO:0006913 pneumococcal meningitis skos:exactMatch NCIT:C157958 Pneumococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis MONDO:0006918 posterior uveitis skos:exactMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis MONDO:0006918 posterior uveitis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 -MONDO:0006921 Actinomycetales infectious disease skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis MONDO:0006921 Actinomycetales infectious disease skos:closeMatch NCIT:C34350 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis +MONDO:0006921 Actinomycetales infectious disease skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis MONDO:0006926 haemophilus infectious disease skos:closeMatch NCIT:C34654 Hemophilus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilus infection MONDO:0006927 Rickettsiaceae infectious disease skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rickettsialpox +MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 +MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0006937 pulpitis skos:exactMatch NCIT:C52595 Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037904 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034686 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 +MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037904 MONDO:0006946 renal osteodystrophy skos:exactMatch NCIT:C114827 Renal Osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy -MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renovascular hypertension MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 +MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renovascular hypertension MONDO:0006952 retinopathy of prematurity skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinopathy of prematurity +MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 +MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 +MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035585 -MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10CM:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10WHO:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement -MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis +MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10CM:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006970 sialolithiasis skos:exactMatch NCIT:C34994 Salivary Gland Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary gland stone MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 +MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 +MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 MONDO:0006977 spermatocele skos:exactMatch NCIT:C120909 Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele -MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis -MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute thyroiditis -MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NCIT:C85172 Subvalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subvalvular aortic stenosis MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0007000 Treponema infectious disease skos:closeMatch NCIT:C85197 Treponemal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treponemal infection MONDO:0007009 ureterolithiasis skos:exactMatch NCIT:C26902 Ureteric Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ureteric stone MONDO:0007015 viral meningitis skos:narrowMatch ICD10WHO:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement MONDO:0007015 viral meningitis skos:narrowMatch ICD10CM:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement -MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bor syndrome -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 +MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265234 +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bor syndrome MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome, autosomal dominant +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome, autosomal dominant -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 -MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033770 -MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27592 Cranial Nerve VI Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial nerve vi palsy +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 +MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome +MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27593 Abducens Nerve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens nerve disorder semapv:RegularExpressionReplacement +MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27592 Cranial Nerve VI Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial nerve vi palsy MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens palsy -MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265268 MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 +MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans +MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acanthosis nigricans -MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthosis nigricans -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000452 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001080 +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 MONDO:0007037 achondroplasia skos:closeMatch OMIM:100800 achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ach MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant compelling helioophthalmic outburst syndrome MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photic sneeze reflex MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sneezing from light exposure MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroutka sneeze -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101000 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic neurinoma, bilateral MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic schwannomas, bilateral -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0007040 Sakati-Nyhan syndrome skos:closeMatch OMIM:101120 acrocephalopolysyndactyly iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acps type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt cephalodactyly -MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apert-crouzon disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt cephalodactyly MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101200 -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, epicanthus inversus, and ptosis type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrocephaly, skull asymmetry, and mild syndactyly -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saethre-chotzen syndrome with eyelid anomalies MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chotzen syndrome MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, epicanthus inversus, and ptosis type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saethre-chotzen syndrome with eyelid anomalies +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrocephaly, skull asymmetry, and mild syndactyly +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial-skeletal-dermatologic dysplasia MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial-skeletal-dermatologic dysplasia -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 -MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrokeratoderma, hereditary papulotranslucent +MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 +MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoderma, hereditary papulotranslucent -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenous plaques of hands and feet -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoelastoidosis -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrokeratoderma, hereditary papulotranslucent MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545044 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545044 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoelastoidosis +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenous plaques of hands and feet MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069445 MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101900 +MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069445 MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:closeMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosenthal-kloepfer syndrome MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thick lips and oral mucosa MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afa syndrome MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated familial somatotropinoma +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma, familial isolated +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma predisposition -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotrophinoma, familial -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma, familial isolated MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotrophinoma, familial MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekbom syndrome MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromelalgia, hereditary MONDO:0007054 acromial dimples skos:closeMatch OMIM:102350 acromial dimples semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supraspinous fossae, congenital +MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102370 MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 -MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102370 MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102400 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930971 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917715 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 -MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863307 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 +MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863307 MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102520 MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495490 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round-headed spermatozoa -MONDO:0007060 spermatogenic failure 6 skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrosome malformation of spermatozoa MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatozoa, round-headed -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 +MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round-headed spermatozoa MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 -MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adactylia, unilateral +MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 +MONDO:0007060 spermatogenic failure 6 skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia +MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of hand, unilateral +MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adactylia, unilateral MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adactylia, unilateral -MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:narrowMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adenosine deaminase deficiency semapv:RegularExpressionReplacement +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, delayed onset -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, late-onset -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:narrowMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adenosine deaminase deficiency semapv:RegularExpressionReplacement -MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine triphosphate, elevated, of erythrocytes MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine triphosphate, elevated, of erythrocytes +MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine triphosphate, elevated, of erythrocytes +MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103050 +MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch OMIM:103050 adenylosuccinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001529 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103230 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863204 MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 MONDO:0007072 ADULT syndrome skos:closeMatch OMIM:103285 adult syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia-hypodactylia MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aglossia-adactylia MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peromelia with micrognathism MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oromandibular limb hypoplasia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 -MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103420 MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrimia congenita, autosomal dominant +MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103420 +MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 +MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3494506 MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C118434 Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, squamous cell, alcohol-related, protection against MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence, protection against -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid-suppressible hyperaldosteronism +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-dependent hyperaldosteronism syndrome MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hyperaldosteronism type i +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103900 -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid-suppressible hyperaldosteronism MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, sensitive to dexamethasone -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-dependent hyperaldosteronism syndrome -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 +MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0007082 alopecia areata 1 skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 +MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104290 -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:163729 NOS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presenile and senile dementia -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, early-onset, with cerebral amyloid angiopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:163729 NOS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007089 Alzheimer disease 2 skos:closeMatch OMIM:104310 alzheimer disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 2, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104310 -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic local, autosomal dominant +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, hereditary localized -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic local, autosomal dominant MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863012 +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch OMIM:104510 amelogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 +MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 +MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104570 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 +MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104570 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863006 -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105120 MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cranial neuropathy with lattice corneal dystrophy MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, gsn-related -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin -MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, cst3-related +MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, cst3-related -MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 -MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis +MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, cst3-related +MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 -MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial visceral -MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic nonneuropathic -MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105200 +MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic nonneuropathic MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, familial visceral +MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial visceral MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label attrv30m amyloidosis MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206245 -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary amyloidosis, transthyretin-related +MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, leptomeningeal, transthyretin-related -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid polyneuropathy, familial -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cardiomyopathy, transthyretin-related +MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid polyneuropathy, familial MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary localized cutaneous amyloidosis +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, sporadic MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement @@ -2557,232 +2490,226 @@ MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888102 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105550 -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement MONDO:0007107 anal sphincter myopathy, internal skos:closeMatch OMIM:105565 anal sphincter myopathy, internal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proctalgia fugax due to anal sphincter myopathy MONDO:0007108 anal canal carcinoma skos:closeMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloacogenic carcinoma -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 3 semapv:RegularExpressionReplacement MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271934 +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 3 semapv:RegularExpressionReplacement MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroreticulosis, hereditary benign -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aregenerative anemia, chronic congenital -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aplasia, pure, hereditary +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrogenesis imperfecta MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital erythroid hypoplastic -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aplasia, pure, hereditary +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aregenerative anemia, chronic congenital +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrogenesis imperfecta +MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysmal subarachnoid hemorrhage, familial -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 -MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm of interventricular septum MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm of interventricular septum +MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm of interventricular septum MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1387721 MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105805 -MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym happy puppet syndrome, formerly +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049004 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105830 MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman syndrome chromosome region -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angel-shaped phalangoepiphyseal dysplasia -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angel-shaped phalangoepiphyseal dysplasia +MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym happy puppet syndrome, formerly MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066017 +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angel-shaped phalangoepiphyseal dysplasia MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105835 +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angel-shaped phalangoepiphyseal dysplasia MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106050 MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, hereditary neurocutaneous -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, hereditary neurocutaneous MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, disseminated MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal arterial venous malformations with cutaneous hemangiomas -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106070 +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, hereditary neurocutaneous MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary neurocutaneous malformation -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anhidrosis, isolated, with normal sweat glands -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhidrosis, isolated, with normal sweat glands +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106070 MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated generalized anhidrosis with normal sweat glands MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106190 +MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anhidrosis, isolated, with normal sweat glands +MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhidrosis, isolated, with normal sweat glands MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106220 MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862868 MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia and absent patella MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia and absent patella -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon filiforme adnatum and cleft palate MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum and cleft palate +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon filiforme adnatum and cleft palate +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106250 -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106260 +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon-ectodermal defects-cleft lip/palate +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106260 +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007125 ankyloglossia skos:closeMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'tongue-tie' MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing spondylitis, susceptibility to -MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bechterew syndrome MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie-strumpell spondylitis +MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bechterew syndrome MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis +MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis +MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing vertebral hyperostosis with tylosis -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia with orofacial cleft +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106600 MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, with orofacial cleft MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, familial MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym second premolars and third molars, absence of -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106600 -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia with orofacial cleft -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106750 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862844 +MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106750 +MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onychodystrophy with hypoplasia or absence of distal phalanges MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106995 MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862841 -MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onychodystrophy with hypoplasia or absence of distal phalanges -MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia-onychodystrophy with hypoplasia or absence of distal phalanges -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, partial -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia and onychodystrophy -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, partial MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 -MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorectal anomalies +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia and onychodystrophy MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorectal anomalies +MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorectal anomalies MONDO:0007136 genetic anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 -MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, congenital -MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anosmia, isolated congenital MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, isolated congenital +MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, congenital MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107200 +MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anosmia, isolated congenital MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment ocular dysgenesis MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265246 -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies -MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rear syndrome -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 +MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic arch anomaly with peculiar facies and mental retardation +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862682 -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, nonsyndromic MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, nonsyndromic +MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital defect of skull and scalp MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defect, congenital -MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C116337 Obstructive Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstructive sleep apnea -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch NCIT:C19862 OSA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osa -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, obstructive sleep MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, obstructive sleep MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea/hypopnea syndrome -MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arcus corneae +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, obstructive sleep +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch NCIT:C19862 OSA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osa +MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C116337 Obstructive Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstructive sleep apnea +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, obstructive sleep MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcus corneae -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arcus corneae +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, right ventricular dilated +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uhl anomaly -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108010 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriovenous malformations MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bavm MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007772 +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriovenous malformations MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862471 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stickler syndrome type 1 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 -MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108420 +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive MONDO:0007161 spermatogenic failure 2 skos:closeMatch OMIM:108420 spermatogenic failure 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspermiogenesis factor -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic ataxia, nystagmus-associated +MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108420 +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetazolamide-responsive hereditary paroxysmal cerebellar ataxia +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, familial paroxysmal +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic ataxia, nystagmus-associated MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellopathy, hereditary paroxysmal +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720416 -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial paroxysmal ataxia -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, familial paroxysmal -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus +MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 +MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic ataxia type 1 MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108600 -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 -MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia with congenital miosis +MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia with congenital miosis +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia +MONDO:0007167 atelosteogenesis type I skos:closeMatch OMIM:108720 atelosteogenesis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylohumerofemoral hypoplasia MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 -MONDO:0007167 atelosteogenesis type I skos:closeMatch OMIM:108720 atelosteogenesis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylohumerofemoral hypoplasia MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108721 MONDO:0007168 atelosteogenesis type III skos:closeMatch OMIM:108721 atelosteogenesis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007169 atherosclerosis susceptibility skos:closeMatch OMIM:108725 atherosclerosis susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherogenic lipoprotein phenotype MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108760 MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 -MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial, with conduction disturbance +MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block +MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108800 MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -2790,181 +2717,179 @@ MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108900 MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862387 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024984 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108950 -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sveinsson chorioretinal atrophy -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy +MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 +MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862387 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108985 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862382 +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicoidal peripapillary chorioretinal degeneration +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sveinsson chorioretinal atrophy MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 +MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109000 -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 MONDO:0007178 aurocephalosyndactyly skos:closeMatch OMIM:109050 aurocephalosyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auralcephalosyndactyly MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:closeMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nigrospinodentatal degeneration MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinopontine atrophy -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024408 -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109150 +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nigrospinodentatal degeneration +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azorean neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024408 +MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109150 MONDO:0007184 alopecia, androgenetic, 1 skos:closeMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baldness, male pattern MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862319 MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109300 MONDO:0007186 gastroesophageal reflux disease skos:exactMatch NCIT:C92560 Gastroesophageal Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroesophageal reflux MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastroesophageal reflux, pediatric MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ger +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004779 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062804 -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109400 -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 -MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basilar impression, primary +MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basilar impression, primary -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic, b-cell +MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basilar impression, primary +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls2 +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic, b-cell MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109543 -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004213 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 +MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109650 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004943 MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-amino acids, renal transport of -MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurine renal reabsorption MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-amino acids, renal transport of +MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurine renal reabsorption +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109740 -MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder diverticulum -MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder diverticulum MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339085 MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109900 MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110050 MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796197 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, and epicanthus inversus -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes without ovarian failure MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with ovarian failure -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with duane retraction syndrome MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis, ptosis, and epicanthus inversus -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes without ovarian failure +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with duane retraction syndrome +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, and epicanthus inversus MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110150 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharoptosis, myopia, and ectopia lentis MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis, myopia, and ectopia lentis -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112200 +MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346072 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862177 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, limb-girdle, with bone fragility MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with medullary fibrosarcoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112300 +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, limb-girdle, with bone fragility MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457014 +MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112300 MONDO:0007207 Böök syndrome skos:closeMatch OMIM:112300 book syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phc syndrome MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 +MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432201 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112310 -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112350 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of legs, anterior, with dwarfism -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weismann-netter syndrome MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxopachyosteose diaphysaire tibio-peroniere -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112350 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weismann-netter syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112410 -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with hypertension +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension and brachydactyly syndrome MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862170 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension and brachydactyly syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension and brachydactyly syndrome -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862169 +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112410 +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with hypertension MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 +MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862169 MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-thumb brachydactyly syndrome MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-thumb brachydactyly syndrome MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, combined b and e types MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, combined b and e types -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, preaxial, with hallux varus and thumb abduction MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, preaxial, with hallux varus and thumb abduction -MONDO:0007215 brachydactyly type A1 skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862151 -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, preaxial, with hallux varus and thumb abduction +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 +MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 +MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862151 +MONDO:0007215 brachydactyly type A1 skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112600 -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 MONDO:0007217 brachydactyly type A3 skos:closeMatch OMIM:112700 brachydactyly, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112800 MONDO:0007218 brachydactyly type A4 skos:closeMatch OMIM:112800 brachydactyly, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 and type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osebold-remondini syndrome MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112910 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862130 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osebold-remondini syndrome -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862103 +MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113100 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 +MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113100 +MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862103 MONDO:0007222 brachydactyly type D skos:closeMatch OMIM:113200 brachydactyly, iia d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stub thumb MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113300 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862100 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113310 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-ectrodactyly with fibular aplasia or hypoplasia -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862100 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-ectrodactyly with fibular aplasia or hypoplasia MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-nystagmus-cerebellar ataxia MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-nystagmus-cerebellar ataxia -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-distal symphalangism syndrome +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 +MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome +MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-distal symphalangism syndrome MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metatarsus iv, short MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe, fourth, short MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 @@ -2977,280 +2902,278 @@ MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch O MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931421 MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113500 MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachyrachia +MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial cleft anomalies -MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cleft anomalies MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113600 -MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bof syndrome -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatous branchial clefts-lip pseudocleft syndrome -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip pseudocleft-hemangiomatous branchial cyst syndrome -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging +MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cleft anomalies MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchio-oculo-facial syndrome MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113620 +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip pseudocleft-hemangiomatous branchial cyst syndrome +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatous branchial clefts-lip pseudocleft syndrome +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging +MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bof syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootorenal dysplasia MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-fraser syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113650 -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113670 MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophy of the breast, juvenile MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophy of the breast, juvenile MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantomastia, juvenile +MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113670 +MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amastia MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amastia +MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous ichthyosiform erythroderma MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic hyperkeratosis, late-onset MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous erythroderma ichthyosiformis congenita of brocq -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous ichthyosiform erythroderma -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113800 +MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, progressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary bundle branch system defect -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, nonprogressive -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113900 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067184 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020497 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114000 +MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020497 MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861975 MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114030 MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc, childhood-onset -MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral, childhood-onset -MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, hereditary painful -MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, painful plantar -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861964 +MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label callosities, hereditary painful +MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, painful plantar +MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, hereditary painful MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114150 +MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861964 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 +MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114150 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 +MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly and knuckle pads MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streblodactyly MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C120205 Acampomelic Campomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acampomelic campomelic dysplasia -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acampomelic campomelic dysplasia +MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streblodactyly MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acampomelic campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acampomelic campomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia with autosomal sex reversal MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd1/sra1 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861922 -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 +MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 +MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 +MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 +MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C120205 Acampomelic Campomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acampomelic campomelic dysplasia MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220666 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 +MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 MONDO:0007252 Gordon syndrome skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, cleft palate, and clubfoot MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cancer -MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer +MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast cancer +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma caused by somatic mutation MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C3728 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7927 Liver and Intrahepatic Bile Duct Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liver and intrahepatic bile duct carcinoma +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 -MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmct +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmct MONDO:0007257 candidiasis, familial, 1 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114580 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676032 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114620 +MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfcs -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 -MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007268 hypertrophic cardiomyopathy 4 skos:closeMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 4, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, idiopathic dilated -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial idiopathic -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 +MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenoma, familial cutaneous MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenoma, familial cutaneous -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406817 MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115250 -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypercarotenemia and vitamin a deficiency, autosomal dominant +MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406817 +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotenoids, plasma level of, quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypercarotenemia and vitamin a deficiency, autosomal dominant MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercarotenemia and vitamin a deficiency, autosomal dominant -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, extraadrenal, and cervical paraganglioma +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, hereditary extraadrenal MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors and multiple extraadrenal pheochromocytomas +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, extraadrenal, and cervical paraganglioma MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, familial extraadrenal -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, familial malignant -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, hereditary extraadrenal MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115310 +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, familial malignant MONDO:0007274 carpal displacement skos:closeMatch OMIM:115400 carpal displacement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal bossing MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpal tunnel syndrome -MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, thenar, of carpal origin -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cat eye syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 +MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 +MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat eye syndrome -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmid-fraccaro syndrome MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22 partial tetrasomy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cat eye syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmid-fraccaro syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat eye syndrome +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, aberrant oral frenula, and growth retardation MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115645 MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, aberrant oral frenula, and growth retardation -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, aberrant oral frenula, and growth retardation -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 +MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 -MONDO:0007279 cataract 7 skos:closeMatch OMIM:115660 cataract 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 -MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115665 +MONDO:0007279 cataract 7 skos:closeMatch OMIM:115660 cataract 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115665 +MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, crystalline aculeiform MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, nonnuclear polymorphic congenital MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, punctate, progressive juvenile-onset -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, nonnuclear polymorphic congenital -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, crystalline aculeiform -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 -MONDO:0007282 cataract 29 skos:closeMatch OMIM:115800 cataract 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 29, coralliform semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007282 cataract 29 skos:closeMatch OMIM:115800 cataract 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 29, coralliform semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007283 cataract 42 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115900 +MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 -MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, duffy-linked MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 +MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 +MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 +MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116600 MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116700 +MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, lamellar -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116700 MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 +MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, lamellar +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfa1 immunodeficiency -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfa1 immunodeficiency +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 +MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cco -MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363129 +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bre -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117210 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 16q22-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 31 -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861735 -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 -MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial danish -MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis +MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861732 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of cerebellar vermis MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital nonprogressive, autosomal dominant +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861732 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q35 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism -MONDO:0007299 Sotos syndrome 1 skos:closeMatch NCIT:C75019 Sotos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome -MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos syndrome MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism +MONDO:0007299 Sotos syndrome 1 skos:closeMatch NCIT:C75019 Sotos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism MONDO:0007300 cerebral sarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117600 MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117650 @@ -3259,58 +3182,56 @@ MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebr MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrocostomandibular syndrome MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:closeMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, posterior cervical, with underlying kyphoscoliosis -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal dominant -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118100 -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118200 +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal dominant +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270912 +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, slow nerve conduction type, linked to duffy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118200 MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, slow nerve conduction type, linked to duffy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia1 +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia1 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118210 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia1 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia1 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118220 MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270911 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931686 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy and deafness, autosomal dominant -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267034 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 +MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267034 +MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070535 -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118400 +MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 -MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm -MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 with syringomyelia +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070535 +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118400 +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 +MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 with syringomyelia MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 +MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085280 -MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arteriohepatic dysplasia -MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille-watson syndrome +MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arteriohepatic dysplasia +MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 +MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085280 +MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium gout MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis, familial articular -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate arthropathy MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:closeMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial apatite disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to warfarin teratogenicity @@ -3318,377 +3239,373 @@ MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM: MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118651 MONDO:0007325 choreoathetosis, familial inverted skos:closeMatch OMIM:118750 choreoathetosis, familial inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile choreoathetosis of fisher MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118830 -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic tyrolean infantile cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper-overload cirrhosis -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper toxicosis, idiopathic +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with pulmonary hypertension MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, cryptogenic -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper toxicosis, idiopathic +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cirrhosis, familial +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cirrhosis, familial -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhosis, familial -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with pulmonary hypertension MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118980 MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clavicle, pseudarthrosis of, congenital MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clavicle, pseudarthrosis of, congenital -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft hand and absent tibia -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft hand and absent tibia MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119100 +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vdws MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119300 MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenitopopliteal syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym popliteal pterygium syndrome +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenitopopliteal syndrome +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119500 -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome -MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft, nonsyndromic -MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, nonsyndromic +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 +MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, nonsyndromic +MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft, nonsyndromic MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 +MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119540 -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate -MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, isolated -MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch NCIT:C87069 Cleft Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate +MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, isolated +MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome +MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795898 +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syngnathia MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syngnathia -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syngnathia MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119570 -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharocheilodontic syndrome +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth +MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008928 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 -MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861515 MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119650 +MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861515 MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 +MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 MONDO:0007342 clubfoot skos:closeMatch NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 +MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubbing of digits MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropachy, hereditary MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital clubbing, isolated congenital -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119900 +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003492 +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 -MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coarctation of aorta -MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coarctation of aorta MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 +MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coarctation of aorta MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003492 -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration with progressive cataracts +MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coarctation of aorta MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cochleosaccular degeneration with progressive cataracts +MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration with progressive cataracts MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120040 MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold hypersensitivity -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold-induced autoinflammatory syndrome, familial +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold urticaria, familial -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120100 MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of iris, choroid, and retina +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, uveoretinal -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of iris, choroid, and retina MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 -MONDO:0007351 coloboma of macula skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agenesis of macula MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120300 -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-coloboma syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007351 coloboma of macula skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agenesis of macula MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillorenal syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillorenal syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852759 MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic coloboma, vesicoureteral reflux, and renal anomalies +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-coloboma syndrome MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120330 -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillorenal syndrome +MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852759 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852752 +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120400 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 -MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morning glory disc anomaly MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve head pits, bilateral congenital +MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morning glory disc anomaly MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cob1 -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795902 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795902 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cob1 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120502 MONDO:0007360 branchiootic syndrome 2 skos:closeMatch OMIM:120502 branchiootic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod retinal dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone-rod dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120970 -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cone-rod dystrophy type 2 semapv:RegularExpressionReplacement -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractural arachnodactyly, congenital +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractural arachnodactyly, congenital MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220668 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractural arachnodactyly, congenital -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractural arachnodactyly, congenital -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 MONDO:0007364 arthrogryposis, distal, type 2E skos:closeMatch OMIM:121070 arthrogryposis, distal, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures of fingers and jaw +MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121201 +MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007367 febrile seizures, familial, 1 skos:closeMatch OMIM:121210 febrile seizures, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypocupremia -MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label copper deficiency, familial benign MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper deficiency, familial benign -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpo deficiency +MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label copper deficiency, familial benign MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx deficiency -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpox deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coproporphyria, hereditary +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpo deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coproporphyria, hereditary -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpox deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harderoporphyria -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harderoporphyria -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121400 MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:closeMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band keratopathy with deafness MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, crystalline, of schnyder MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, schnyder -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial basement membrane -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, microcystic -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, anterior basement membrane MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, epithelial basement membrane MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121820 -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, anterior basement membrane +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, microcystic +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial basement membrane +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fleck +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fleck MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, francois-neetens speckled or flecked -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fleck -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cfd -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, punctate or nodular MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1641846 +MONDO:0007377 granular corneal dystrophy type I skos:closeMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, punctate or nodular +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior polymorphous corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial +MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339277 -MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meesmann corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339277 MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 +MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meesmann corneal dystrophy MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 +MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122200 -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122400 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal erosions, recurring hereditary -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122430 +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930866 +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122430 +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneodermatoosseous syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial, with skin and skeletal changes +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneodermatoosseous syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial, with skin and skeletal changes MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigeminal anesthesia, familial -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia, familial MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia, familial +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia, familial +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 +MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery dissection, spontaneous MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coronary artery dissection, spontaneous -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym typus degenerativus amstelodamensis +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label costocoracoid ligament, congenitally short MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costocoracoid ligament, congenitally short -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysplasia +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label costocoracoid ligament, congenitally short MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with or without rib anomalies MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation anomalies +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysplasia MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis +MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin sensitivity MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin resistance MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin, poor metabolism of -MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin sensitivity MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin sensitivity -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852513 MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122780 -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 +MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852513 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dysostosis with diaphyseal hyperplasia -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysostosis with diaphyseal hyperplasia -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122900 +MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432263 +MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122900 +MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysostosis with diaphyseal hyperplasia +MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dysostosis with diaphyseal hyperplasia MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123050 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852501 -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 +MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 +MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch OMIM:123150 jackson-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, midfacial hypoplasia, and foot abnormalities MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123150 +MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch OMIM:123150 jackson-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, midfacial hypoplasia, and foot abnormalities MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123155 MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, autosomal dominant MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, autosomal dominant MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperckemia, idiopathic MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpk, elevated serum -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, sporadic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, heidenhain variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, sporadic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123450 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat cry syndrome MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 5p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat cry syndrome MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123450 MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123500 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343208 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryoglobulinemia, familial mixed +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryoglobulinemia, familial mixed MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340992 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343208 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852456 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852454 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptomicrotia-brachydactyly syndrome +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852453 -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos, unilateral or bilateral, isolated -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos, unilateral or bilateral, isolated -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with microphthalmia and peters anomaly -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon, simple MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon, simple +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with microphthalmia and peters anomaly +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos, unilateral or bilateral, isolated +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos, unilateral or bilateral, isolated +MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852453 MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123700 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beare-stevenson syndrome -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis gyrata syndrome of beare and stevenson +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123790 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852406 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123853 -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyprus facial neuromusculoskeletal syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyprus facial neuromusculoskeletal syndrome -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyprus facial neuromusculoskeletal syndrome +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123880 MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071283 -MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, massive -MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic angiomatosis of bone, diffuse MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic angiomatosis of bone, diffuse +MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic angiomatosis of bone, diffuse +MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, massive MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 MONDO:0007416 Balkan nephropathy skos:closeMatch OMIM:124100 danubian endemic familial nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathia epidemica +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 -MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 +MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023369 +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier disorder, segmental semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 -MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian point of pinna MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian notch -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 +MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian point of pinna MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with onychodystrophy, autosomal dominant MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with onychodystrophy, autosomal dominant MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive stapedial, with ear malformation and facial palsy MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive stapedial, with ear malformation and facial palsy +MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive stapedial, with ear malformation and facial palsy MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124490 -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124500 -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with keratopachydermia and constrictions of fingers and toes -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124500 MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 +MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125230 MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852278 @@ -3696,266 +3613,260 @@ MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dominant optic atrophy plus syndrome MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125250 MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casil +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior openbite malocclusion, familial -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental noneruption -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852222 +MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unerupted second primary molar -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125370 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399379 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 MONDO:0007436 dentin dysplasia type I skos:closeMatch OMIM:125400 dentin dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rootless teeth MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulpal dysplasia +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous dysplasia of dentin -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentin dysplasia with sclerotic bones MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentin dysplasia with sclerotic bones -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentin dysplasia with sclerotic bones +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, autosomal MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, autosomal +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-ii MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-iii +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125500 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial paresis, partial, unilateral -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cayler cardiofacial syndrome -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric crying facies -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym depressor anguli oris muscle, hypoplasia of +MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-iii MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym depressor anguli oris muscle, hypoplasia of +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric crying facies +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125520 +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cayler cardiofacial syndrome +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial paresis, partial, unilateral +MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 -MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria +MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory angioedema -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatographism, familial MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermographism, familial MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermographism, familial +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatographism, familial MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory angioedema +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125640 MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852144 MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurogenic diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic diabetes insipidus MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, neurohypophyseal MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, primary central +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, neurohypophyseal MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, neurohypophyseal -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125850 MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch OMIM:125851 maturity-onset diabetes of the young, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mody, glucokinase-related MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125851 MONDO:0007454 type 1 diabetes mellitus 2 skos:closeMatch OMIM:125852 iia 1 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar drift, hereditary -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism +MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, partial MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinoidism, oculocutaneous, autosomal dominant MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation -MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, partial MONDO:0007460 discrimination, Two-point, reduction 1N skos:closeMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory discrimination MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126190 -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disproportionate short stature with ptosis and valvular heart lesions MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disproportionate short stature with ptosis and valvular heart lesions -MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disproportionate short stature with ptosis and valvular heart lesions MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple sclerosis, susceptibility to MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis, susceptibility to +MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0007463 distal osteosclerosis skos:closeMatch OMIM:126250 distal osteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, distal MONDO:0007467 DNA, low-repetitive sequences of skos:closeMatch OMIM:126390 dna, low-repetitive sequences of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym repetitive sequence dna MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852022 -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doughnut lesions of skull, familial -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126600 -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832174 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial drusen +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832174 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852020 MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, early adult-onset, grouped -MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126700 -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 +MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013799 +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 +MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane syndrome MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome -MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane syndrome +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromas -MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture -MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dupuytren contracture MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromatosis, familial -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dwarfism with tall vertebrae -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae +MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dupuytren contracture +MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym le merrer syndrome MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gloomy face syndrome -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dwarfism with tall vertebrae +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 +MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:closeMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moore-federman syndrome +MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265309 MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127300 MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym madelung deformity -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851986 -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis and nephritis MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyschondrosteosis and nephritis +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851986 +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127400 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406775 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symmetric dyschromatosis of the extremities MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschromatosis symmetrica hereditaria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symmetric dyschromatosis of the extremities MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127550 -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis, hereditary benign intraepithelial -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265966 MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dkbi MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyskeratosis, hereditary benign intraepithelial +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis, hereditary benign intraepithelial MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym word-blindness, congenital -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265966 MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym word-blindness, congenital MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lewy body variant of alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dementia, lewy body +MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, lewy body MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder with gaze palsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, lewy body +MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432282 -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300233 -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia epiphysealis hemimelica with chondromas and osteochondromas MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127820 MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysplasia epiphysealis hemimelica with chondromas and osteochondromas -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia epiphysealis hemimelica with chondromas and osteochondromas +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal MONDO:0007491 dystelephalangy skos:closeMatch OMIM:128000 dystelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirner deformity -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888090 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset primary dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851943 MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860315 +MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851943 MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whispering dysphonia, hereditary MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whispering dysphonia, hereditary -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, progressive, with diurnal variation +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal dominant MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal dominant +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant +MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 +MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia +MONDO:0007496 dystonia 12 skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, rapid-onset MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128235 MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868681 MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement -MONDO:0007496 dystonia 12 skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, rapid-onset MONDO:0007498 ear exostoses skos:closeMatch OMIM:128300 ear exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exostoses of external auditory canal MONDO:0007500 ear malformation skos:closeMatch OMIM:128600 ear malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cup ear -MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pafc MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear pits +MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pafc MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe indentations, posterior MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior helical ear pits MONDO:0007503 ear without helix skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128800 +MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label earlobes, thickened, with conductive deafness from incudostapedial abnormalities MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobes, thickened, with conductive deafness from incudostapedial abnormalities -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 MONDO:0007505 earring holes, natural skos:closeMatch OMIM:129000 earring holes, natural semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe sinuses -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with cleft lip/palate -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 -MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clouston hidrotic ectodermal dysplasia +MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, autosomal dominant +MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129510 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851858 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129600 @@ -3963,1368 +3874,1368 @@ MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate sko MONDO:0007517 ectrodactyly-cleft palate syndrome skos:closeMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecp syndrome MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795933 MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129850 -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129900 MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome +MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129900 +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, gravis type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type i MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130020 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type i +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypermobility syndrome +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130020 +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypermobility syndrome MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130050 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrochalasia ehlers-danlos syndrome MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome with short stature and limb anomalies -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pds, defective biosynthesis of +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dermatan sulfate proteoglycan +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pds, defective biosynthesis of +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xylosylprotein type 4-beta-galactosyltransferase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym proteodermatan sulfate, defective biosynthesis of +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome with short stature and limb anomalies MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1869122 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylodysplastic ehlers-danlos syndrome -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontal eds MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peds +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontal eds MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elastoma intrapapillare perforans verruciformis -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eps MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miescher elastoma +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eps +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130600 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emg syndrome MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beckwith-wiedemann syndrome chromosome region +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050344 -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010456 -MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emphysema, congenital lobar MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emphysema, congenital lobar +MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emphysema, congenital lobar +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265797 -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 -MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms -MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:603543 limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130720 MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851710 +MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:603543 limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms +MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms +MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130950 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 +MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130950 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131100 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym men1 somatic mutations MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine adenomatosis, multiple +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym men1 somatic mutations +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131100 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mea type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine adenomatosis, multiple MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028190 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal dysplasia type 1, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym engelmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal dysplasia type 1, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:613797 PRSS33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos -MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:606239 IKZF4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos -MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilopenia +MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilopenia MONDO:0007545 Eosinophilopenia skos:closeMatch OMIM:131430 eosinophilopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil aplasia -MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophils, malignant proliferation of +MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilopenia MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131440 +MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophils, malignant proliferation of MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131705 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131705 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, neonatal MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, neonatal form -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131750 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal dominant -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albopapuloid dominant dystrophic epidermolysis bullosa MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albopapuloid dominant dystrophic epidermolysis bullosa MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal dominant MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal dominant -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131760 MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa simplex, dowling-meara type -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa of hands and feet -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs, acral form +MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131760 MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131800 -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, pretibial +MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs, acral form +MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa of hands and feet MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, pretibial -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pretibial -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131950 +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131960 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation +MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, benign occipital +MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign occipital MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851549 MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 -MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign occipital -MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, benign occipital -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, photogenic -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppr MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoconvulsive reaction +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppr +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, photogenic +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 +MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, reading +MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, reading MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278193 MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132300 -MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, reading -MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, reading +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, comp-related MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, comp-related -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with myopia and conductive deafness -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with myopia and conductive deafness -MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035040 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with myopia and conductive deafness MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromatosis, familial +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035040 +MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromas, dermal eccrine MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ancell-spiegler cylindromas -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromatosis, familial +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindromatosis, familial +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferguson-smith-type epithelioma -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple self-healing squamous epithelioma, susceptibility to +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple self-healing squamous epithelioma, susceptibility to -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132800 -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm/aortic dissection and patent ductus arteriosus +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple self-healing squamous epithelioma, susceptibility to +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferguson-smith-type epithelioma +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 +MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm/aortic dissection and patent ductus arteriosus MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851502 MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133000 -MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, small fiber -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, familial -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythermalgia, primary +MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythermalgia, primary +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014805 -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, autosomal dominant benign -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, primary familial and congenital -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia +MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, small fiber +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythermalgia, primary MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133100 +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, primary familial and congenital +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, autosomal dominant benign MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133180 -MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di guglielmo disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous, m6 -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 +MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di guglielmo disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133190 -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cardia adenocarcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal squamous cell carcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, susceptibility to -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escc, susceptibility to -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cardia adenocarcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546837 +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escc, susceptibility to +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal squamous cell carcinoma, susceptibility to MONDO:0007581 exchondrosis of pinna, posterior skos:closeMatch OMIM:133500 exchondrosis of pinna, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear bump MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133690 MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851428 -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 +MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133701 +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930867 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label external auditory canal, bilateral atresia of, with congenital vertical talus -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930867 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external auditory canal, bilateral atresia of, with congenital vertical talus -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851412 -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133750 +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, autosomal dominant -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, autosomal dominant -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851412 +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133750 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851402 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851402 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch NCIT:C34982 Retinopathy of Prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative vitreoretinopathy type 1 semapv:RegularExpressionReplacement +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, autosomal dominant +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, autosomal dominant +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial hemihypertrophy MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial hemihypertrophy +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia MONDO:0007590 hemifacial hypertrophy skos:closeMatch NCIT:C84702 Facial Asymmetry semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial asymmetry -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851399 MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, familial recurrent peripheral MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial palsy, familial recurrent peripheral MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:closeMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia with elevated factor type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome -MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf, autosomal dominant +MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 +MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf, autosomal dominant MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016386 -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015773 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134750 -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis ossificans progressiva +MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135100 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birt-hogg-dubé syndrome +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067736 -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346010 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067736 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346010 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch OMIM:135150 birt-hogg-dube syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079218 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birt-hogg-dubé syndrome MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement +MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, familial infiltrative MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary +MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079218 MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135300 +MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with hypertrichosis MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized, with or without gingival hyperplasia MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis terminalis, generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with hypertrichosis MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with progressive deafness MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with progressive deafness MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingival fibromatosis with sensorineural hearing loss +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tukel syndrome +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tukel syndrome +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibula and ulna, duplication of, with absence of tibia and radius +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetramelic mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurin-sandrow syndrome, segmental -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibula and ulna, duplication of, with absence of tibia and radius -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135750 -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror-image polydactyly +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch NCIT:C35321 Coffin-Siris Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135900 -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch NCIT:C35321 Coffin-Siris Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931545 MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 +MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931545 MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label finger locking, recurrent, with intrauterine growth retardation and proportionate short stature MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136000 MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342895 -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lcat deficiency MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcata deficiency MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lcat deficiency MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslipoproteinemic corneal dystrophy -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcata deficiency MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome +MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 +MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343108 +MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superior oblique oculomotor palsy, familial congenital +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlear nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fourth cranial nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus from superior oblique palsy MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fourth cranial nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850996 -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlear nerve palsy, familial congenital -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superior oblique oculomotor palsy, familial congenital +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fourth cranial nerve palsy, familial congenital MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary symmetrical aplastic nevi of temples MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 MONDO:0007628 foveal hypoplasia 1 skos:closeMatch OMIM:136520 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 1 with or without anterior segment anomalies and/or cataract semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal pigment epithelial dystrophy, central +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 -MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site type 16p12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal pigment epithelial dystrophy, central MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site, distamycin a type, rare, fra(16)(p12.1) +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site type 16p12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950122 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136680 -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal malformation +MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950122 MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median facial cleft syndrome +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal malformation MONDO:0007636 frontorhiny skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia MONDO:0007636 frontorhiny skos:closeMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136800 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, early-onset MONDO:0007638 fucosidase regulator skos:closeMatch OMIM:136830 fucosidase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-l-fucosidase regulator -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy +MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, hemorrhagic MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus dystrophy, pseudoinflammatory, of sorsby +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder, agenesis of MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder, agenesis of -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-a-globulin, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of MONDO:0007644 IgAD1 skos:closeMatch NCIT:C123434 Immunoglobulin A Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive axonal neuropathy with neuromyotonia MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromyotonia and axonal neuropathy, autosomal recessive -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137200 -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuromyotonia and axonal neuropathy, autosomal recessive MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia, myotonia, and muscle wasting +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuromyotonia and axonal neuropathy, autosomal recessive +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive axonal neuropathy with neuromyotonia +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137200 MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708349 -MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 +MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060707 +MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 +MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch OMIM:137270 gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017155 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastritis, familial giant hypertrophic -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menetrier disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300229 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007654 genu valgum, st. Helena familial skos:closeMatch OMIM:137370 genu valgum, st. helena familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genu valgum, hereditary pubertal +MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossitis, benign migratory -MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch NCIT:C119047 Erythema Migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema migrans -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137440 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, prnp-related MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, cerebral, with spongiform encephalopathy MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137440 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, prnp-related +MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantiform cementoma, familial +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cemental dysplasia, periapical MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cementomas, familial multiple -MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 -MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic motor tics MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette disorder +MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic motor tics MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch OMIM:137600 anterior segment dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with early-onset glaucoma, autosomal dominant MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137600 MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, open angle, type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137750 -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma and sleep apnea -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842025 +MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137763 -MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma +MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842025 MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subependymoma +MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fjhn, atypical -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431693 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431693 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibronectin glomerulopathy MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomas, multiple -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, multiple -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841984 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 MONDO:0007672 glomuvenous malformation skos:closeMatch NCIT:C27496 Glomangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomangiomatosis -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841984 +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:closeMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trans-stilbene oxide glutathione transferase activity MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate nephrolithiasis MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate urolithiasis -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138770 MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 +MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138770 MONDO:0007679 GMS syndrome skos:closeMatch OMIM:138770 gms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goniodysgenesis--mental retardation--short stature syndrome -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mng/crd/da -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138790 +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841853 -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138790 +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mng/crd/da MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138800 MONDO:0007682 granddad syndrome skos:closeMatch OMIM:138920 granddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717750 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139090 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007686 gray platelet syndrome skos:closeMatch OMIM:139090 gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717750 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139090 MONDO:0007687 graying of hair, precocious skos:closeMatch OMIM:139100 graying of hair, precocious semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white hair, premature +MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139210 +MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796081 +MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myhre syndrome -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngotracheal stenosis, arthropathy, prognathism, and short stature MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth-mental deficiency syndrome of myhre -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796081 -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139210 MONDO:0007688 Myhre syndrome skos:closeMatch NCIT:C123815 Myhre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome +MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139300 MONDO:0007690 aromatase excess syndrome skos:closeMatch OMIM:139300 aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aromatase activity, increased MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970109 -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139393 MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch OMIM:139600 hairy elbows semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis cubiti -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139393 MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841696 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068636 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch OMIM:139600 hairy elbows semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis cubiti MONDO:0007695 hairy palms and soles skos:closeMatch OMIM:139650 hairy palms and soles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym circumscribed hairy dysembryoplasia of palms -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841693 -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand and foot deformity with flat facies MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hand and foot deformity with flat facies +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841693 MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072361 MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841679 MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 -MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, autoimmune MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid autoantibodies MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ht MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto struma +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, autoimmune MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931042 -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 +MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140400 -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841657 MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140450 -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of distal interphalangeal joints -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand osteoarthritis -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dipoa +MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841657 MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heberden nodes +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dipoa +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand osteoarthritis +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of distal interphalangeal joints MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heinz body anemias MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heinz body anemias -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sternal nonunion with supraumbilical raphe -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiomas, cavernous, of face and supraumbilical midline raphe MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym raphe, supraumbilical midline, with cavernous facial hemangiomas +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomas, cavernous, of face and supraumbilical midline raphe +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiomas, cavernous, of face and supraumbilical midline raphe +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sternal nonunion with supraumbilical raphe +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058423 MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141000 MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221025 -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058423 MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin membrane nephropathy MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin-basement-membrane nephropathy -MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial atrophy, progressive -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015458 MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141300 MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial atrophy, progressive +MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy +MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015458 +MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 +MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia with strabismus MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia with strabismus -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oavs with radial defect +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia with radial defects -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141400 MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum with radial defect MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldenhar syndrome with ipsilateral radial defect -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects -MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial spasm, familial -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141400 MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm, familial -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475813 -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 +MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm +MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial spasm, familial +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hemoglobin h +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, chromosome type 16-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, deletion-type -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, chromosome type 16-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atr, deletion-type +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475813 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h-related mental retardation -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hemoglobin h MONDO:0007718 hepatic adenomas, familial skos:closeMatch OMIM:142330 hepatic adenomas, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cell adenomas, familial -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defect, congenital MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, complete agenesis of +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, congenital diaphragmatic -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemidiaphragm, agenesis of MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, unilateral agenesis of -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemidiaphragm, agenesis of -MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, hiatus +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defect, congenital MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hernia, hiatus -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142623 +MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, hiatus MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142623 MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirsutism, skeletal dysplasia, and mental retardation MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirsutism, skeletal dysplasia, and mental retardation +MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, progressive mucinous MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, progressive mucinous -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy, premature degenerative, of hip -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beukes hip dysplasia -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beukes hip dysplasia MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumor necrosis factor receptor-associated periodic syndrome -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnf receptor-associated periodic syndrome +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beukes hip dysplasia +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beukes hip dysplasia +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy, premature degenerative, of hip MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hibernian fever, familial +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnf receptor-associated periodic syndrome MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodic fever, familial, autosomal dominant +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumor necrosis factor receptor-associated periodic syndrome MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142680 MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hidradenitis suppurativa, familial MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip dysplasia, developmental -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050469 MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holt-oram syndrome MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hos1 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 MONDO:0007732 Holt-Oram syndrome skos:closeMatch NCIT:C125592 Holt-Oram Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome -MONDO:0007733 holoprosencephaly 3 skos:closeMatch OMIM:142945 holoprosencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlp3 MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142945 +MONDO:0007733 holoprosencephaly 3 skos:closeMatch OMIM:142945 holoprosencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlp3 MONDO:0007734 holoprosencephaly 4 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142946 +MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym horner syndrome, congenital MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840475 -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label horner syndrome, congenital -MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym horner syndrome, congenital +MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:closeMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym restriction fragment length polymorphism, sickle cell anemia-related -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym humeroradial synostosis MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143050 MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym humeroradial synostosis MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humeroradial synostosis -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143095 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020179 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020179 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinal degeneration -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaloideoretinal degeneration of wagner -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erosive vitreoretinopathy -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinopathy -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagner vitreoretinopathy MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagner vitreoretinopathy +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinopathy +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erosive vitreoretinopathy +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaloideoretinal degeneration of wagner MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinal degeneration MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 -MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-hydroxytryptamine oxygenase regulator +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 5-hydroxytryptamine oxygenase regulator +MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-hydroxytryptamine oxygenase regulator MONDO:0007743 attention deficit-hyperactivity disorder skos:closeMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperactivity of childhood -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdlcq10 -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein cholesterol level quantitative trait locus type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester transfer protein deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency MONDO:0007745 Gilbert syndrome skos:closeMatch OMIM:143500 gilbert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbradykininism MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic hypotensive disorder MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143860 -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143870 MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, familial idiopathic +MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143870 +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-low-density-lipoproteinemia -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch NCIT:C176014 Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial defective -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial ligand-defective MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, familial, due to ligand-defective apolipoprotein b +MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial ligand-defective MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144010 -MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculotemporal nerve syndrome +MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch NCIT:C176014 Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, gustatory MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperhidrosis, gustatory +MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculotemporal nerve syndrome MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:closeMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, primary palmar -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263420 +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071311 -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840428 MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144190 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, epidermolytic palmoplantar -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris familiaris -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner +MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840428 MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris familiaris MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratosis, localized epidermolytic +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, epidermolytic palmoplantar +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial combined hyperlipidemia MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144250 MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate-inducible hyperlipemia MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch NCIT:C34711 Fredrickson Type IV Lipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fredrickson type iv lipidemia -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, combined fat and carbohydrate-induced MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, late-onset MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, mixed -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia with hyperprebetalipoproteinemia, familial MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia with hyperprebetalipoproteinemia, familial +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, combined fat and carbohydrate-induced +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell carcinoma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell adenocarcinoma MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch NCIT:C4033 Clear Cell Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clear cell renal cell carcinoma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, nonpapillary +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonpapillary renal carcinoma type 1 locus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, autosomal dominant -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperostosis corticalis generalisata, benign form of worth, with torus palatinus -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal dominant -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endosteal hyperostosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endosteal hyperostosis, autosomal dominant +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal dominant +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperostosis corticalis generalisata, benign form of worth, with torus palatinus +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, autosomal dominant MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144755 MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144800 MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial isolated primary MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenoma, familial +MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial isolated primary MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145001 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704981 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism-jaw tumor syndrome, hereditary MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenomatosis, familial cystic +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism-jaw tumor syndrome, hereditary +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation of eyelids MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation of eyelids -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835039 +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835039 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive hyperkalemia, familial +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpotassemia and hypertension, familial -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpotassemia and hypertension, familial +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive hyperkalemia, familial MONDO:0007773 hyperproglucagonemia skos:closeMatch OMIM:145270 hyperproglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucagon, large molecular weight species of MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperreflexia MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperreflexia MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145300 -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome, opitz phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-frias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome, opitz phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:closeMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farmer syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpyrexia, malignant MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance, selective pituitary MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145650 -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone resistance, selective pituitary -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch NCIT:C131216 Pituitary Resistance to Thyroid Hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary resistance to thyroid hormone MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance, selective pituitary +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch NCIT:C131216 Pituitary Resistance to Thyroid Hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary resistance to thyroid hormone +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone resistance, selective pituitary MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145680 MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthryroidal hyperthyroxinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, dysprealbuminemic +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized hypertrichosis, ambras type MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840362 +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145900 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 semapv:RegularExpressionReplacement MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalciuric hypercalcemia, acquired -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial benign -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement +MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145900 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial benign +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalciuric hypercalcemia, acquired +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 +MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840347 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146000 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410529 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020967 -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic hypogonadotropic hypogonadism MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, isolated hypogonadotropic +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic hypogonadotropic hypogonadism MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146110 -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146160 +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelia with mullerian duct anomalies MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-uterus syndrome MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelia with mullerian duct anomalies -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelia with mullerian duct anomalies -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 +MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146255 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis, nerve deafness, and hypoparathyroidism MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840333 +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146255 +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis, nerve deafness, and hypoparathyroidism MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146390 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146450 -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064060 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 +MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 +MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064060 MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotension, orthostatic MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autonomic failure, pure -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265220 +MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146520 MONDO:0007805 hypotrichosis 2 skos:closeMatch OMIM:146520 hypotrichosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htss MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840296 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146590 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840296 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 -MONDO:0007809 ichthyosis hystrix gravior skos:closeMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcupine man -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type +MONDO:0007809 ichthyosis histrix, Lambert type skos:closeMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcupine man +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis simplex MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis simplex -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis--cheek--eyebrow syndrome -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis--cheek--eyebrow syndrome +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis--cheek--eyebrow syndrome MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome -MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, autosomal dominant MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146750 -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146800 +MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, autosomal dominant MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146800 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146830 -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige, level of +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige response underlying allergic asthma and rhinitis MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic hypersensitivity -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ige responsiveness, atopic +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige, level of +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147060 -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary median maxillary central incisor MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused incisors +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary median maxillary central incisor -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym single central maxillary incisor -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary median maxillary central incisor MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smmci syndrome -MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'double tooth' -MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label incisors, fused mandibular +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused mandibular +MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label incisors, fused mandibular +MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'double tooth' MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 MONDO:0007826 incisors, shovel-shaped skos:closeMatch OMIM:147400 incisors, shovel-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinodonty -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147421 -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066407 -MONDO:0007827 inclusion body myositis skos:closeMatch OMIM:147421 inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm +MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238190 -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome +MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147421 +MONDO:0007827 inclusion body myositis skos:closeMatch OMIM:147421 inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, autosomal dominant MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal dominant -MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, pregnancy-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147480 +MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, pregnancy-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis +MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus -MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis -MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intussusception MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception -MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootoradial syndrome -MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia +MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intussusception MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 +MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147750 +MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia +MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootoradial syndrome MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796002 -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 +MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch OMIM:147770 johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadh syndrome -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795841 MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147791 -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 +MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795841 +MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures with other abnormalities MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147800 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063429 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220686 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures with other abnormalities -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840061 MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147891 -MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly -MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds11, formerly -MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articular hypermobility syndrome MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268349 MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articular hypermobility syndrome +MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds11, formerly +MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch NCIT:C124837 Kabuki Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147920 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147920 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric castleman disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 -MONDO:0007846 KBG syndrome skos:closeMatch OMIM:148050 kbg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148050 -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220687 -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 +MONDO:0007846 KBG syndrome skos:closeMatch OMIM:148050 kbg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis, hereditary MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis, hereditary -MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal dominant +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal dominant +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal dominant MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148210 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835672 +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoderma, palmoplantar, with deafness MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axonal neuropathy with palmoplantar keratoderma MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with palmoplantar keratoderma and nail dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axonal neuropathy with palmoplantar keratoderma -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148370 -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148370 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 +MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema +MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oudtshoorn skin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toc MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with esophageal cancer MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toc MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with clinodactyly -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148520 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmaris et plantaris with clinodactyly +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148520 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835663 -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratodermia palmoplantaris papulosa, buschke-fischer-brauer type -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kppp1 +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratodermia palmoplantaris papulosa, buschke-fischer-brauer type MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris papulosa +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma i, striate, focal, or diffuse -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma i, striate, focal, or diffuse +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris striata type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma i, striate, focal, or diffuse MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835650 -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, focal palmoplantar and gingival MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, focal palmoplantar and gingival +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, focal palmoplantar and gingival MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome -MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleeblattschadel +MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleine-levin hibernation syndrome MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleine-levin hibernation syndrome +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleine-levin hibernation syndrome +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022739 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051452 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktw syndrome -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022739 -MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label knuckle pads +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149200 +MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label knuckle pads MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome +MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149200 MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia, hereditary MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia with leukonychia MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spoon nails -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthe -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exaggerated startle reaction MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome, congenital -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome, congenital +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exaggerated startle reaction MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-baby syndrome -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal duct defect -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasolacrimal duct obstruction +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome, congenital +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthe +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome, congenital MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimal duct defect -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal puncta, absence of -MONDO:0007872 LADD syndrome skos:closeMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimoauriculodentodigital syndrome -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149730 +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasolacrimal duct obstruction +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal duct defect +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ladd syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ladd syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levy-hollister syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265269 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023003 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050638 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150250 MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175778 -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150250 +MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labd -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laryngeal abductor paralysis +MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150260 +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labd +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia +MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngomalacia MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060786 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 +MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060786 +MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 MONDO:0007878 congenital laryngomalacia skos:closeMatch NCIT:C98971 Laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia -MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia -MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngomalacia MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 -MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larynx, congenital partial atresia of -MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larynx, congenital partial atresia of MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150300 -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal web, familial -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal web, familial +MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larynx, congenital partial atresia of +MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larynx, congenital partial atresia of MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 +MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal web, familial +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic web MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glottic web, congenital anterior MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic bar -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic web -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 4, with or without ectodermal dysplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, absence of +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal web, familial MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, pegged or missing +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, absence of MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succedaneous teeth, agenesis of MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150400 +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 4, with or without ectodermal dysplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10CM:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10WHO:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calvé-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcp -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calvé-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 -MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10WHO:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10CM:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyoma, uterine MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, uterine -MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150700 MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophagogastric and vulvar +MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150700 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis and renal cell cancer, hereditary MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cutaneous and uterine leiomyomata type 1, with or without renal cell carcinoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, multiple cutaneous -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150800 -MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lentiginosis, inherited patterned +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis profusa -MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, inherited patterned MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, generalized -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 +MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lentiginosis, inherited patterned +MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, inherited patterned MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, diffuse +MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151050 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz-majewski syndrome -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175704 -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moynahan syndrome MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062901 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 +MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moynahan syndrome +MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151200 -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835450 -MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835450 MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, torrance variant MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, luton variant MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151210 MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835437 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023465 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318544 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023465 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 -MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute monocytic MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute monocytic +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318544 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 -MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen sclerosus et atrophicus +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia striatus +MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen sclerosus et atrophicus +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia totalis and/or partialis -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia punctata MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcelain nails -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculomotor-levator synkinesis +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia punctata +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia striatus MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomotor-levator synkinesis +MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculomotor-levator synkinesis +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma family syndrome of type 51 and fraumeni semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni-like syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma family syndrome of type 51 and fraumeni semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip, median nodule of upper -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lip, median nodule of upper +MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch NCIT:C165527 Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, reverse partial MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial, of limbs and lower trunk -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, reverse partial +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151800 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple symmetric -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023804 -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoma +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple symmetric +MONDO:0007909 familial multiple lipomatosis skos:closeMatch NCIT:C3192 Lipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoma MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple -MONDO:0007909 familial multiple lipomatosis skos:closeMatch NCIT:C3192 Lipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoma MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoma MONDO:0007911 lipoprotein, variant of beta skos:closeMatch OMIM:152400 lipoprotein, variant of beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-lipoprotein, double MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 -MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lymphocyte low molecular weight dna MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lmw-dna +MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lymphocyte low molecular weight dna MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, intestinal MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, intestinal MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267372 MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152800 -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835272 -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and cerebral arteriovenous anomaly MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema and cerebral arteriovenous anomaly -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and cerebral arteriovenous anomaly +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835272 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdmmr syndrome MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlcrd syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and retinal folds with microcephaly and microphthalmos +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdmmr syndrome MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835265 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153100 MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027138 +MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema praecox MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153200 -MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221348 MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048244 -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns -MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns +MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and yellow nails -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-distichiasis syndrome with renal disorder and diabetes mellitus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema with distichiasis +MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153400 -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-distichiasis syndrome with renal disorder and diabetes mellitus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema with distichiasis MONDO:0007923 macrocephaly, benign familial skos:closeMatch OMIM:153470 macrocephaly, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-hughes syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, pseudopapilledema, and multiple hemangiomata +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-zonana syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, multiple lipomas, and hemangiomata MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym riley-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-zonana syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-smith syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym riley-smith syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, pseudopapilledema, and multiple hemangiomata MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocytic anemia, refractory, due to type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megakaryocytes, unilobular nucleated MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153550 -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 -MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocytic anemia, refractory, due to type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007927 congenital macroglossia skos:closeMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153670 -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, polymorphic vitelline +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym best vitelliform macular dystrophy, multifocal -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 -MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, senile -MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 +MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, atypical vitelliform MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153870 -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, dominant cystoid -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, dominant cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular edema, cystoid -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystoid macular dystrophy +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, dominant cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddc -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystoid macular dystrophy +MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 +MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium wasting, renal -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium loss, isolated renal -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154020 +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium loss, isolated renal +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 9p24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with type 9p24.3 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs2 @@ -5332,1329 +5243,1318 @@ MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orpha MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154276 MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs3 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nager syndrome -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154400 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nager syndrome MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, with limb anomalies +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nager syndrome MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154400 +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:closeMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphodiester glycoside deficiency -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 -MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maxillopalpebral synkinesis -MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marcus gunn phenomenon MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marcus gunn phenomenon +MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marcus gunn phenomenon MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaw-winking -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 +MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maxillopalpebral synkinesis +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026829 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265235 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154780 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026891 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024899 MONDO:0007950 mastocytosis skos:closeMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa +MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 +MONDO:0007950 mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007951 masticatory muscles, hypertrophy of skos:closeMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masseter muscle hypertrophy -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155050 MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maxillonasal dysplasia -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835087 +MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155145 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 +MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835087 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmtc -MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc1 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 -MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity +MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027107 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 -MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor +MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity MONDO:0007961 megalencephaly, autosomal dominant skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155350 MONDO:0007962 megalodactyly skos:closeMatch NCIT:C48900 Macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly -MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodactyly MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic nevus syndrome, hereditary -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, cutaneous malignant +MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodactyly MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, familial +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical mole-malignant melanoma syndrome -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic nevus syndrome, hereditary MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, cutaneous malignant +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155700 MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155755 MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch NCIT:C176905 Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome MONDO:0007968 melanoma tumor antigen Gp90 skos:closeMatch OMIM:155770 melanoma tumor antigen gp90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym class type 1 unique tumor antigen of melanoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melkersson syndrome MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mros MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melkersson syndrome +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155900 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 -MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050284 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 -MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mel +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melorheostosis, isolated +MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated +MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mel +MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155980 MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous cranial ossification, delayed -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous cranial ossification, delayed -MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meniere disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meniere disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mdk +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia with ankle, carpal, and tarsal synostosis MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410530 MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156250 MONDO:0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156310 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156400 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265295 -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156500 MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 -MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia -MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metatropic dysplasia MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156550 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, autosomal dominant +MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220693 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, autosomal dominant MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, autosomal dominant MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcoria, congenital -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcor +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcoria, congenital MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156600 MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michelin tire baby syndrome MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, multiple benign ring-shaped, of limbs -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-deafness syndrome -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156620 MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796062 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-deafness syndrome +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, glaucoma, and absent frontal sinuses +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microgastria-limb reduction defects association MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microgastria-limb reduction defects association +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microgastria-limb reduction defects association +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with microphthalmia MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156850 -MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with myopia and corectopia MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and corectopia -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microspherophakia-metaphyseal dysplasia -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia +MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with myopia and corectopia MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157151 MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834880 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microspherophakia-metaphyseal dysplasia +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr1 MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgau -MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr1 MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch NCIT:C89715 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine +MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements, congenital MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bimanual synergia -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008004 familial mitral valve prolapse skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157800 MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones -MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030069 +MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157800 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853240 +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 +MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius sequence MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 -MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius sequence -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label permanent molars, secondary retention of -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym permanent molars, secondary retention of -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 +MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030069 MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dental ankylosis +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label permanent molars, secondary retention of +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155930 +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym permanent molars, secondary retention of MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157980 MONDO:0008008 MOMO syndrome skos:closeMatch OMIM:157980 momo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrosomia, obesity, macrocephaly, and ocular abnormalities MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834759 -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 +MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 +MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:closeMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk1 MONDO:0008011 antigen defined by monoclonal antibody T87 skos:closeMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk2 -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158170 -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaicism, chromosomal +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158170 MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixoploidy, familial -MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motion sickness +MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaicism, chromosomal MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness +MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motion sickness MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265226 MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mouth, inability to open completely, and short finger-flexor tendons MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158310 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas +MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome +MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muir-torre syndrome +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063042 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch NCIT:C84905 Muir-Torre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675014 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteus-like syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism +MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granule cell hypertrophy and megalencephaly +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granule cell hypertrophy and megalencephaly +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteus-like syndrome MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158500 -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harper-young myopathy -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7a -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, with vocal cord paralysis -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmnvp MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158580 -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, with vocal cord paralysis +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7a +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harper-young myopathy +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, adult, autosomal dominant, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158590 -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome, autosomal dominant MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome, autosomal dominant MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 -MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 -MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bethlem myopathy +MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 MONDO:0008029 Bethlem myopathy skos:closeMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy, infantile MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy, infantile -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158900 -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd2, digenic MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158901 MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159050 MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159400 MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, limb-girdle -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-pancytopenia syndrome -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159550 MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327919 -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 +MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159550 +MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ham +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraparesis, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelopathy, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelopathy, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ham MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis +MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelopathy, htlv-1-associated +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative syndrome, transient +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834582 +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159595 MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:602496 MPST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus, cerebellar ataxia, and deafness MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, cerebellar ataxia, and deafness MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159800 MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834579 +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus-dystonia syndrome +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential -MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159900 +MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834569 -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159950 -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with progressive myoclonic epilepsy -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834567 +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159950 MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160010 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal ataxia with neuromyotonia, hereditary -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome +MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834567 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with myokymia MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous muscle fiber activity, hereditary MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 with or without hypomagnesemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia with periodic ataxia -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with myokymia -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal ataxia with neuromyotonia, hereditary +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1719788 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal dominant MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, early-onset, autosomal dominant MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, late distal hereditary -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy -MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular aggregate myopathy -MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement -MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubular aggregate myopathy -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 +MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular aggregate myopathy +MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement MONDO:0008054 juvenile dermatomyositis skos:closeMatch NCIT:C27578 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931785 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, familial idiopathic inflammatory -MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, familial idiopathic inflammatory MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia levior MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160800 +MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia levior +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160900 MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinert myotonic dystrophy -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamb syndrome +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym name syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamb syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney myxoma-endocrine complex MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, spotty pigmentation, and endocrine overactivity -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym name syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic myopathy with cylindrical spirals MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy with cylindrical spirals -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161000 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161000 +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy totalis, isolated -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail growth MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406443 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychauxis, hyponychia, and onycholysis -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail growth MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-shaped nails MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychauxis, hyponychia, and onycholysis +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy totalis, isolated +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027341 -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataplexy +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 +MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:closeMatch NCIT:C84618 Cataplexy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataplexy +MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataplexy MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement +MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008062 narcolepsy 1 skos:closeMatch NCIT:C84618 Cataplexy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataplexy MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161400 -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca2 MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 +MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca2 MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:closeMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leigh syndrome, adult -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with cores -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 3, with intranuclear rods semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, familial +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 3, with intranuclear rods semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with cores +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephritis, familial, without deafness or ocular defect +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, familial MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161900 MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, progressive, with hypertension MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal failure, progressive, with hypertension MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, adult-onset MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igan +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label umod-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335929 MONDO:0008075 schwannomatosis skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162100 +MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335929 MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy +MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162100 MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch OMIM:162210 neurofibromatosis, familial spinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsnf MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 -MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duodenal carcinoid syndrome MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npdc syndrome -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromas, palmar cutaneous +MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duodenal carcinoid syndrome MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromas, palmar cutaneous MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162260 +MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, atypical MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, variant form(s) of -MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, atypical -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056420 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromata, mucosal, with endocrine tumors MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucosal neuroma syndrome +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056420 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromata, mucosal, with endocrine tumors MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025269 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162400 -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary, with liability to pressure palsies +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with liability to pressure palsies +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, familial recurrent MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069382 MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162500 -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, familial recurrent -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with liability to pressure palsies +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069382 +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary, with liability to pressure palsies MONDO:0008089 neutropenia, chronic familial skos:closeMatch OMIM:162700 neutropenia, chronic familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukopenia, benign familial -MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia -MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053176 MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch NCIT:C3820 Cyclic Neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543669 -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 -MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilia, hereditary +MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilia, hereditary -MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, woolly hair +MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilia, hereditary +MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 +MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543669 MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus sebaceous MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, keratinocytic, nonepidermolytic +MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, woolly hair MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162900 +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevi flammei, familial multiple +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformations, congenital +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations, congenital MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067193 +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym port-wine stain MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163000 +MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067193 MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235752 -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym port-wine stain -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformations, congenital -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevi flammei, familial multiple -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations, congenital +MONDO:0008095 nevus anemicus skos:closeMatch NCIT:C3943 Nevus Anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus anemicus -MONDO:0008095 nevus anemicus skos:closeMatch NCIT:C3943 Nevus Anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythema nuchae MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unna nevus -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear sebaceous nevus syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163200 +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimmelpenning-feuerstein-mims syndrome +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimmelpenning-feuerstein-mims syndrome +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermal nevus syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimmelpenning-feuerstein-mims syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia, nievergelt type +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163200 MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163400 +MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia, nievergelt type MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432231 MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163500 MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008100 nipples inverted skos:closeMatch OMIM:163600 nipples inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mammillae invertitae -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nipples, supernumerary MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory nipples MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nipples, supernumerary -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polythelia, familial MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163700 +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polythelia, familial +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nipples, supernumerary +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory nipples MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial, autosomal dominant -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 with or without cardiac noncompaction and/or ascending aorta dilation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation with bradyarrhythmia MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 with or without cardiac noncompaction and/or ascending aorta dilation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial, autosomal dominant +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner phenotype with normal karyotype MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym female pseudo-turner syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male turner syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0008104 Noonan syndrome 1 skos:closeMatch NCIT:C34854 Noonan Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome MONDO:0008105 nose, anomalous shape of skos:closeMatch OMIM:164000 nose, anomalous shape of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potato nose MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164180 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 +MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164180 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocular cicatricial pemphigoid MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164185 MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164200 MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063691 +MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, hypotelorism, and hypospadias MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharofacioskeletal syndrome MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164220 MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular hypotelorism, submucosal cleft palate, and hypospadias -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, hypotelorism, and hypospadias -MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmt syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and digital abnormalities with normal intelligence +MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodigitoesophagoduodenal syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and digital abnormalities with normal intelligence +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmt syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodigitoesophagoduodenal syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch NCIT:C74987 Feingold Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch NCIT:C74987 Feingold Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164300 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoma-dysphagia syndrome -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoma-dysphagia syndrome +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834013 MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoma-dysphagia syndrome +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoma-dysphagia syndrome +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164400 -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NCIT:C129982 Spinocerebellar Ataxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 -MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164750 MONDO:0008124 omphalocele, autosomal skos:closeMatch OMIM:164750 omphalocele, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p31 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164750 +MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, hereditary distal MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, partial, with scleronychia -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833872 MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164900 MONDO:0008128 ophthalmoplegia, familial static skos:closeMatch OMIM:165000 ophthalmoplegia, familial static semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, nonprogressive, congenital hereditary -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive, with scrotal tongue and mental deficiency -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, progressive, with scrotal tongue and mental deficiency MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, progressive, with scrotal tongue and mental deficiency +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive, with scrotal tongue and mental deficiency MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165199 MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165200 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy and cataract, autosomal dominant MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 +MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy and cataract, autosomal dominant +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, juvenile +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165500 MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve aplasia, bilateral -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia, bilateral MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated optic nerve hypoplasia/aplasia +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia, bilateral MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165550 -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833796 -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165590 -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated optic nerve hypoplasia/aplasia +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with fibular aplasia +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orbital margin, hypoplasia of +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833796 +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165590 MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orbital margin, hypoplasia of -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165600 +MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orbital margin, hypoplasia of MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833795 -MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and macrocytosis +MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165600 MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow +MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and macrocytosis MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833792 -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann epiphyseal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy of fingers, familial MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165700 +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann epiphyseal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthrosis +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy of fingers, familial MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oa MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip, female-specific, susceptibility to -MONDO:0008145 Ollier disease skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 +MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthrosis MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014642 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 +MONDO:0008145 Ollier disease skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0008145 Ollier disease skos:closeMatch NCIT:C3008 Enchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enchondromatosis -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta tarda MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with blue sclerae +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta tarda +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 +MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, perinatal lethal form MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268363 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268363 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with normal sclerae MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoglophonic dysplasia -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglosphonic dysplasia +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166250 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoglophonic dysplasia MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal dysplasia MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal sclerosis MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with unusual skeletal lesions MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal dysplasia +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary, of carpal bones with or without nephropathy MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric osteolysis, autosomal dominant -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166300 MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674705 -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary, of carpal bones with or without nephropathy +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166300 MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoma cutis -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048902 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166350 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048902 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous heteroplasia, progressive MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic ossification, familial -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive MONDO:0008153 progressive osseous heteroplasia skos:closeMatch NCIT:C132062 Osteoma Cutis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoma cutis -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous heteroplasia, progressive MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432264 MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166450 -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179239 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis fragilis generalisata +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal dominant +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179239 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis with melorheostosis -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis, isolated -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata with osteopoikilosis +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatoosteopoikilosis -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis, isolated MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis with melorheostosis +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis and dacryocystitis MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopoikilosis and dacryocystitis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis and dacryocystitis +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, postmenopausal MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone mineral density quantitative trait locus MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:closeMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical thickening of long bones with bowing and ichthyosis -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 -MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otodental syndrome with coloboma -MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootodental syndrome MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 +MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootodental syndrome +MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otodental syndrome with coloboma +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym come/rom MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otitis media, chronic/recurrent -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833691 MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931416 +MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833691 +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovalocytosis, southeast asian +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovalocytosis, southeast asian MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he, stomatocytic -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis, stomatocytic hereditary MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovalocytosis, southeast asian MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovalocytosis, southeast asian +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis, stomatocytic hereditary MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teratoma, ovarian -MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, ovarian MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cyst, ovarian +MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, ovarian MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064257 MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149951 -MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian fibromata MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian fibromata +MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian fibromata MONDO:0008170 ovarian cancer skos:closeMatch OMIM:167000 ovarian cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, epithelial -MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate +MONDO:0008171 nephrolithiasis skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney stones MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate +MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate -MONDO:0008171 nephrolithiasis skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney stones -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal dominant +MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167100 MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jadassohn-lewandowsky type, formerly -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn-lewandowsky syndrome, formerly MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167200 -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:167210 pachyonychia congenita 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jackson-lawler type, formerly +MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn-lewandowsky syndrome, formerly MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167210 -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 +MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:167210 pachyonychia congenita 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jackson-lawler type, formerly MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167220 +MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 MONDO:0008175 pacman dysplasia skos:closeMatch OMIM:167220 pacman dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal stippling with osteoclastic hyperplasia MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167300 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, with paget disorder of bone semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167320 -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, with paget disorder of bone semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pexpd MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167400 -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833661 MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pain, submandibular, ocular, and rectal, with flushing -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pexpd +MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833661 MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal pain, familial MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palatopharyngeal incompetence MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palatopharyngeal incompetence -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal incompetence MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal insufficiency +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palpebral coloboma-lipoma syndrome MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palpebral coloboma-lipoma syndrome MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167750 -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 -MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreas, annular MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 -MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071757 +MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreas, annular MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167755 -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hp -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, susceptibility to -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, protection against -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, calcific +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatitis, hereditary +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, protection against MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167800 +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, susceptibility to +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hp +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp MONDO:0008187 panic disorder 1 skos:closeMatch OMIM:167870 panic disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008187 panic disorder 1 skos:closeMatch NCIT:C34890 Panic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder -MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, reticulated and confluent, of gougerot and carteaud -MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, familial cutaneous -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus jugulare tumors -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp +MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, reticulated and confluent, of gougerot and carteaud +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chemodectomas +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial nonchromaffin, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, carotid body -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chemodectomas +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus jugulare tumors MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomata MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168000 -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors -MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168100 MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, of hunt semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168100 MONDO:0008194 Paramolar tubercle of bolk skos:closeMatch OMIM:168200 paramolar tubercle of bolk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bolk cusp -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paralysis periodica paramyotonica +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168300 +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NCIT:C122794 Paramyotonia Congenita without Cold Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita without cold paralysis MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paralysis periodica paramyotonica MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita without cold paralysis -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NCIT:C122794 Paramyotonia Congenita without Cold Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita without cold paralysis MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum occultum -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parietal foramina, symmetric -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum, hereditary -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna +MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168500 MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks +MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum occultum +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum, hereditary +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parietal foramina, symmetric MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868597 -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal foramina with clavicular hypoplasia +MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with parietal foramina MONDO:0008199 late-onset Parkinson disease skos:exactMatch NCIT:C53542 Park semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label park -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical parkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical parkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168605 MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868594 -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella aplasia-hypoplasia +MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168605 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168860 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868576 -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella aplasia-hypoplasia MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal tonic upgaze, benign childhood, with ataxia MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal tonic upgaze, benign childhood, with ataxia +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868576 +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella, chondromalacia of MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella, chondromalacia of -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char syndrome +MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome +MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char syndrome MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym butterfly dystrophy of retinal pigment epithelium MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868546 -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169170 +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym butterfly dystrophy of retinal pigment epithelium +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patterson pseudoleprechaunism syndrome -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169170 +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868546 MONDO:0008212 Pechet factor deficiency skos:closeMatch OMIM:169200 pechet factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dynia factor deficiency MONDO:0008213 pectus excavatum skos:closeMatch OMIM:169300 pectus excavatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym funnel chest MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pectus excavatum -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, demyelinating, adult-onset, autosomal dominant -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, demyelinating, adult-onset, autosomal dominant -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169500 -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169550 +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, demyelinating, adult-onset, autosomal dominant +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 +MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169550 MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign chronic pemphigus MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169600 MONDO:0008218 Hailey-Hailey disease skos:closeMatch NCIT:C82865 Familial Benign Pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign pemphigus MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169610 -MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pemphigus vulgaris, familial MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030809 -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 +MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pemphigus vulgaris, familial MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigus vulgaris, familial -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 +MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268532 -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170390 +MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 +MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170390 +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238358 MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 -MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, juvenile MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, prepubertal MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, juvenile +MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170700 MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency -MONDO:0008233 pheochromocytoma skos:closeMatch OMIM:171300 pheochromocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, susceptibility to MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 +MONDO:0008233 pheochromocytoma skos:closeMatch OMIM:171300 pheochromocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, susceptibility to +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, familial medullary -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculoradial dysplasia -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171480 +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculoradial dysplasia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868390 -MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase -MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphatase, acid, of tissues +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171480 MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphatase, acid, of tissues -MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase +MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphatase, acid, of tissues +MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp3--alpha polypeptide +MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm4 MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym milk pgm -MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 6pgl deficiency MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgls deficiency +MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 6pgl deficiency MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:closeMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herrmann syndrome MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch OMIM:172700 pick disease of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia with lobar atrophy and neuronal cytoplasmic inclusions MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch NCIT:C85008 Pick's Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label picks disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 +MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868311 MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label piebald trait with neurologic defects MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym piebald trait with neurologic defects +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label piebald trait with neurologic defects MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868310 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented paravenous chorioretinal atrophy MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented paravenous chorioretinal atrophy +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172880 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence and oligodactyly -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome and oligodactyly +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172880 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome and oligodactyly MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal dominant +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035116 MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173200 -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumothorax, primary spontaneous -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pneumothorax, primary spontaneous +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumothorax, primary spontaneous MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173600 -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary acrokeratotic MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kindler syndrome MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous acrokeratotic poikiloderma of kindler and weary +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173700 -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary sclerosing MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing +MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary sclerosing MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032357 +MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036007 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173800 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036007 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectoralis muscle, absence of -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173900 +MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, adult semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173900 MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 +MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0008265 polycystic liver disease 1 skos:closeMatch NCIT:C82833 Polycystic Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 +MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174300 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with progressive myopia MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with progressive myopia +MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with progressive myopia MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174310 -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 1 semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb polydactyly +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fromont anomaly -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 1 semapv:RegularExpressionReplacement -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb with polysyndactyly -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb with polysyndactyly +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polydactyly syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly of triphalangeal thumb +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polydactyly syndrome MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger polydactyly MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 4 semapv:RegularExpressionReplacement +MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, uncomplicated +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 4 semapv:RegularExpressionReplacement MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868111 +MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, uncomplicated MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406217 MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 -MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymorphic light eruption, hereditary MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile spring eruption of ears +MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymorphic light eruption, hereditary +MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036120 -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174810 +MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036120 +MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic osteolytic dysplasia, hereditary expansile -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym expansile osteolysis, familial MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis +MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym expansile osteolysis, familial +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174810 +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, juvenile intestinal +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis coli -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, juvenile intestinal +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, familial, of entire gastrointestinal tract MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch NCIT:C7754 Juvenile Polyposis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, generalized juvenile, with pulmonary arteriovenous malformation -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps/hht -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jp/hht syndrome -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis coli MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, generalized juvenile, with pulmonary arteriovenous malformation +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jp/hht syndrome +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps/hht MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis with hereditary hemorrhagic telangiectasia -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034764 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034764 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps-and-spots syndrome MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, hamartomatous intestinal -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 MONDO:0008281 polyposis, intestinal, scattered and discrete skos:closeMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps, scattered, discrete intestinal MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175500 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, skin pigmentation, alopecia, and fingernail changes -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyposis, skin pigmentation, alopecia, and fingernail changes +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, skin pigmentation, alopecia, and fingernail changes MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062907 MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:closeMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundic gland polyposis MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175510 -MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, crossed -MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly, crossed -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175690 +MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 +MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly, crossed +MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, crossed MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with peculiar skull shape -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265306 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053878 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch NCIT:C35255 Greig Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label greig syndrome -MONDO:0008288 popliteal cyst skos:closeMatch NCIT:C34935 Baker Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baker cyst MONDO:0008288 popliteal cyst skos:closeMatch OMIM:175750 popliteal cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baker cyst -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 +MONDO:0008288 popliteal cyst skos:closeMatch NCIT:C34935 Baker Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baker cyst MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis of mibelli -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175800 -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis palmaris et plantaris disseminata -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175850 -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175860 +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis palmaris et plantaris disseminata MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175860 MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch OMIM:175860 palmoplantar keratoderma, punctate iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent, nonerythroid variant MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute intermittent MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ups deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ups deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent, nonerythroid variant MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867968 MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867968 MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen decarboxylase deficiency +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urod deficiency -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch NCIT:C27725 Porphyria Cutanea Tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, hepatoerythropoietic -MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen decarboxylase deficiency +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch NCIT:C27725 Porphyria Cutanea Tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppox deficiency MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria variegata -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 +MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postaxial oligodactyly, tetramelic MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial oligodactyly, tetramelic +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 MONDO:0008299 posterior column ataxia skos:closeMatch OMIM:176250 posterior column ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond ataxia +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032897 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome associated with chromosome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi syndrome chromosome region MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome associated with chromosome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867801 -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176305 +MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 +MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867801 MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial deficiency, postaxial polydactyly, and hypospadias MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preaxial deficiency, postaxial polydactyly, and hypospadias MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1504412 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063654 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty, male-limited MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell adenoma, somatic, with male-limited precocious puberty MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label precocious puberty, male-limited -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty, male-limited MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sexual precocity, familial, gonadotropin-independent -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063654 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 MONDO:0008304 premature chromatid separation trait skos:closeMatch OMIM:176430 premature chromatid separation trait semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total premature chromatid separation trait -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis syndrome MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino syndrome MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino syndrome MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scra1 -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis syndrome -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial british +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033300 MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176670 @@ -6662,32 +6562,32 @@ MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176690 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 +MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid short stature with pigmented nevi MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progeroid short stature with pigmented nevi -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 -MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prognathism, mandibular MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'hapsburg jaw' MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'habsburg jaw' +MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prognathism, mandibular MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prognathism, mandibular MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176700 -MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal prolapse MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prolapse of vagina and rectum +MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal prolapse -MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal prolapse MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch NCIT:C34973 Rectal Prolapse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rectal prolapse -MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostate cancer MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prostate cancer -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant +MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostate cancer +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, acquired -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal dominant +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal dominant -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal dominant +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085261 +MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elattoproteus syndrome MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176920 -MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elattoproteus syndrome +MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085261 MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177000 @@ -6695,142 +6595,142 @@ MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabul MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protrusio acetabuli MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177170 MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 MONDO:0008322 pseudoachondroplasia skos:closeMatch OMIM:177170 pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, pseudoachondroplastic +MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 +MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052313 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pseudohyperaldosteronism type 1 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoaldosteronism MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liddle syndrome -MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052313 MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis at elbow and knee MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary congenital rigidity of elbows and knees -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliation syndrome -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation syndrome -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation glaucoma MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exfoliation syndrome -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal pha1 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation glaucoma +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation syndrome +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliation syndrome MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal pha1 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand disorder, platelet-type semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177850 +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand disorder, platelet-type semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, heterozygous +MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177850 +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haspeslagh syndrome +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygia, mental retardation, and distinctive craniofacial features MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867443 MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177980 -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygia, mental retardation, and distinctive craniofacial features -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haspeslagh syndrome -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178000 MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium of conjunctiva and cornea -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867440 +MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178000 MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium, antecubital -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867440 MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178200 MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867439 +MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium, antecubital +MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178300 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015996 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, strabismus, and ectopic pupils -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, strabismus, and ectopic pupils MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867437 MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178330 +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, strabismus, and ectopic pupils +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, strabismus, and ectopic pupils MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178370 MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344976 MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:closeMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high altitude pulmonary hypertension MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178550 +MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178610 -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary nodular lymphoid hyperplasia, familial MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary nodular lymphoid hyperplasia, familial +MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary nodular lymphoid hyperplasia, familial MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:closeMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciuffo syndrome -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178995 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066100 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile hypertrophic MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179250 -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial ray hypoplasia with choanal atresia -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray hypoplasia with choanal atresia MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 -MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial-renal syndrome +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray hypoplasia with choanal atresia +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial ray hypoplasia with choanal atresia +MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial-renal syndrome +MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial-renal syndrome MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931146 MONDO:0008364 Raynaud disease skos:closeMatch OMIM:179600 raynaud disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold fingers, hereditary -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179613 MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795822 -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008366 red cell permeability defect skos:closeMatch OMIM:179650 red cell permeability defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis with transverse slitlike changes -MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high red cell phosphatidylcholine hemolytic anemia -MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylcholine red cell membrane disorder MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leaky red cell syndrome +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylcholine red cell membrane disorder +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high red cell phosphatidylcholine hemolytic anemia MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, distal type, autosomal dominant MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 +MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179830 -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular acidosis, proximal +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal MONDO:0008369 proximal renal tubular acidosis skos:exactMatch NCIT:C123218 Proximal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticular pigment anomaly of flexures MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179900 +MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 +MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticular pigment anomaly of flexures MONDO:0008372 retinal aplasia skos:closeMatch OMIM:179900 retinal aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180000 +MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179900 MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arteries, tortuosity of MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arteries, tortuosity of -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy, autosomal dominant -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 +MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180000 MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone degeneration MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy, autosomal dominant +MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180100 +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180104 MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180105 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038916 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinoblastoma MONDO:0008380 retinoblastoma skos:closeMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rb -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinoblastoma +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinoblastoma +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038916 MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, dominant MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, dominant MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180210 @@ -6840,914 +6740,911 @@ MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008385 rhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny -MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniorhiny +MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:601542 PITX2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rgs MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg +MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rgs MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea -MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring dermoid of cornea +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea +MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring dermoid of cornea MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 -MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ringed hair +MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180600 +MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 +MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867147 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180730 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 -MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch OMIM:180750 robinow-sorauf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-bifid hallux syndrome MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180750 +MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch OMIM:180750 robinow-sorauf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-bifid hallux syndrome MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-lévy syndrome -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-levy hereditary areflexic dystasia MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roussy-levy hereditary areflexic dystasia -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome +MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-levy hereditary areflexic dystasia +MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumbs and great toes, characteristic facies, and mental retardation +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 +MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 +MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175693 MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome -MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism +MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265248 MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180870 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796140 -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid aplasia or hypoplasia MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary glands, absence of +MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid aplasia or hypoplasia MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180920 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid duct calculi MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym submandibular duct calculi -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgpa MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic salivary gland adenoma -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:606793 NPEPPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgpa +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland adenoma, pleomorphic +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:606793 NPEPPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label say syndrome MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867023 -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, microcephaly, large ears, and short stature -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym say syndrome -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp defects and postaxial polydactyly -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defects and postaxial polydactyly +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, microcephaly, large ears, and short stature +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp defects and postaxial polydactyly +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defects and postaxial polydactyly MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181270 -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp-ear-nipple syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, neurogenic type, of kaeser +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181400 MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, neurogenic type, of kaeser MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181405 -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, myh7-related -MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal muscular dystrophy MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181430 +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal muscular dystrophy +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, myh7-related MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal osteochondrosis MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scheuermann juvenile kyphosis -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866994 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 -MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to +MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 +MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by +MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 1 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scleroatrophic and keratotic dermatosis of limbs MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huriez syndrome MONDO:0008417 sclerocornea, autosomal dominant skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181700 -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 -MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic sclerosis, susceptibility to MONDO:0008418 scleroderma, familial progressive skos:closeMatch NCIT:C70646 CREST Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crest syndrome +MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic sclerosis, susceptibility to MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crest syndrome -MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent idiopathic scoliosis +MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 +MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent isolated scoliosis +MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent idiopathic scoliosis +MONDO:0008420 seborrheic keratosis skos:narrowMatch ICD10CM:L82.1 Other seborrheic keratosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic keratosis semapv:RegularExpressionReplacement MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, seborrheic MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, seborrheic -MONDO:0008420 seborrheic keratosis skos:narrowMatch ICD10CM:L82.1 Other seborrheic keratosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic keratosis semapv:RegularExpressionReplacement -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label simosa craniofacial syndrome MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label simosa craniofacial syndrome +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182170 MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss-myopia syndrome MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome and myopia MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182190 -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866958 -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182210 MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen omphalocele syndrome -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharynx and larynx hypoplasia with omphalocele MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen omphalocele syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321551 -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with arachnodactyly and abdominal hernias +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharynx and larynx hypoplasia with omphalocele +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866958 +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182210 MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen-goldberg craniosynostosis syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with arachnodactyly and abdominal hernias MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321551 MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome MONDO:0008427 sister chromatid exchange, frequency of skos:closeMatch OMIM:182220 sister chromatid exchange, frequency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sce, frequency of -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067159 +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label septo-optic dysplasia spectrum -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432254 MONDO:0008431 slipped femoral capital epiphyses skos:closeMatch OMIM:182260 slipped femoral capital epiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphysiolysis capitis femoris -MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small cell cancer of the lung MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell cancer of the lung +MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small cell cancer of the lung MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182280 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182290 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795864 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182290 +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome chromosome region -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NCIT:C75469 Smith-Magenis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NCIT:C75469 Smith-Magenis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053841 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 MONDO:0008436 Sneddon syndrome skos:closeMatch OMIM:182410 sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis and cerebrovascular accidents -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053841 +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182600 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg3 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strumpell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg3 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182600 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866855 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182601 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch NCIT:C129981 Spastic Paraplegia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch NCIT:C129981 Spastic Paraplegia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spemr MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, epilepsy, and mental retardation MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, epilepsy, and mental retardation -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931667 +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with neuropathy and poikiloderma -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with neuropathy and poikiloderma +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931667 +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182815 MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with neuropathy and poikiloderma +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with neuropathy and poikiloderma MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182815 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty with spastic paraplegia -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with precocious puberty -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866850 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with precocious puberty MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with precocious puberty -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty with spastic paraplegia MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931119 +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sph MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182900 -MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866785 MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182920 +MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866785 MONDO:0008448 spheroid body myopathy skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, spheroid body -MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida -MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 -MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to -MONDO:0008449 spina bifida skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal meningocele +MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 +MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida +MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida +MONDO:0008449 spina bifida skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal meningocele MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182950 -MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182960 MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866784 +MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182960 MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, juvenile, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch OMIM:182960 neuronopathy, distal hereditary motor, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:closeMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshsma -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182980 MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, proximal, adult, autosomal dominant +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182980 MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant adult-onset proximal spinal muscular atrophy MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182990 -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752124 -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar degeneration with slow eye movements -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wadia-swami syndrome -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752121 +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wadia-swami syndrome +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar degeneration with slow eye movements +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label splenogonadal fusion with limb defects and micrognathia +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion with limb defects and micrognathia MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183300 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion limb defect syndrome MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label splenogonadal fusion with limb defects and micrognathia -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion with limb defects and micrognathia -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion limb defect syndrome MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with or without deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75045 Split-Hand/Foot Malformation Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183700 -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866741 MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-foot deformity with mandibulofacial dysostosis MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-foot deformity with mandibulofacial dysostosis -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with congenital nystagmus, fundal changes, and cataracts -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus-split hand syndrome -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866740 -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866741 +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183700 MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866739 +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866740 +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with congenital nystagmus, fundal changes, and cataracts +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus-split hand syndrome MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183802 +MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866739 MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whyte syndrome -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with hypotrichosis -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with hypotrichosis MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866728 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with hypotrichosis +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with hypotrichosis +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whyte syndrome MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital spondyloepiphyseal dysplasia -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia, myopia, and sensorineural deafness -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, myopia, and sensorineural deafness -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia, myopia, and sensorineural deafness MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184095 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strudwick syndrome MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dappled metaphysis syndrome -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdc +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strudwick syndrome MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184252 +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184400 +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010455 +MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184400 MONDO:0008483 stuttering, familial persistent, 1 skos:closeMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stammering -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stapes ankylosis syndrome without symphalangism MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184460 MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 +MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stapes ankylosis syndrome without symphalangism +MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3671377 +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex +MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0259771 MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous cysts, multiple -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3671377 MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0259771 -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866650 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex with natal teeth +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866650 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex with natal teeth -MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenemia +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex with natal teeth +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pco1 -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866649 -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184705 +MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenemia MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866649 +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184705 MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinfeld syndrome MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042044 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff-person syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-trunk syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalomyelitis with rigidity -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-trunk syndrome +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042044 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184900 +MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 +MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome MONDO:0008492 stiff skin syndrome skos:closeMatch NCIT:C118636 Stiff Skin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome +MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff skin syndrome MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185000 MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overhydrated hereditary stomatocytosis -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium-sodium disorder of erythrocyte -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185020 +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis MONDO:0008494 cryohydrocytosis skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia cardiff -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185050 +MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185020 MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency +MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185050 MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy, asplenia, and miosis -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861451 -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stormorken-sjaastad-langslet syndrome MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185070 +MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stormorken-sjaastad-langslet syndrome +MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861451 +MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy, asplenia, and miosis MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym york platelet syndrome MONDO:0008498 strabismus, susceptibility to skos:closeMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861448 -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stratton-parker syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861448 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NCIT:C3391 Sturge-Weber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NCIT:C3391 Sturge-Weber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome +MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185480 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 +MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185480 MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suprabulbar paresis, congenital MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suprabulbar paresis, congenital -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supravalvular aortic stenosis -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 MONDO:0008505 surface antigen, glycoprotein 75 skos:closeMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surface glycoprotein type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa2 MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa5 MONDO:0008508 symphalangism, C. S. Lewis type skos:closeMatch OMIM:185650 symphalangism, c. s. lewis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs, stiff +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym2 +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, distal MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185700 MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861401 -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, distal -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym2 -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185750 MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861391 +MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185750 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861385 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 MONDO:0008511 proximal symphalangism skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints +MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd1 -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 +MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement +MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring and little finger syndactyly MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861355 MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 MONDO:0008515 syndactyly type 4 skos:closeMatch OMIM:186200 syndactyly, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd4 -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 -MONDO:0008516 syndactyly type 5 skos:closeMatch OMIM:186300 syndactyly, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with metacarpal and metatarsal fusion MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spel syndrome -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly-polydactyly-earlobe syndrome -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly-polydactyly-earlobe syndrome +MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 +MONDO:0008516 syndactyly type 5 skos:closeMatch OMIM:186300 syndactyly, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with metacarpal and metatarsal fusion MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186350 MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861347 +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly-polydactyly-earlobe syndrome +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spel syndrome +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly-polydactyly-earlobe syndrome MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synostoses, tarsal, carpal, and digital MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, tarsal, carpal, and digital MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186400 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioaudiosymphalangism syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-symphalangism syndrome of herrmann MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liebenberg syndrome MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861305 +MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis of talus and calcaneus with short stature MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071755 MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861303 MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186580 MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syringomyelia, noncommunicating isolated -MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syringomyelia, noncommunicating isolated +MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 MONDO:0008527 tarsal coalition skos:closeMatch OMIM:186850 tarsal coalition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tarsal fusion -MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conical teeth, multiple MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobodontia +MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conical teeth, multiple MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natal teeth -MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth present at birth MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth present at birth +MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth present at birth MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, generalized essential -MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary benign MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbt -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473555 MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label telangiectasia, hereditary benign +MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473555 +MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary benign MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orw disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osler-rendu-weber disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187300 -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187360 -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956391 -MONDO:0008538 temporal arteritis skos:closeMatch NCIT:C85018 Polymyalgia Rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 +MONDO:0008538 temporal arteritis skos:narrowMatch ICD10CM:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranial arteritis +MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica MONDO:0008538 temporal arteritis skos:narrowMatch ICD10WHO:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956391 MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:narrowMatch ICD10CM:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 +MONDO:0008538 temporal arteritis skos:closeMatch NCIT:C85018 Polymyalgia Rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187360 +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187390 MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931376 -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of MONDO:0008541 spermatic cord torsion skos:closeMatch OMIM:187400 testicular torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion of testicular cord -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187500 +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch NCIT:C84505 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187510 MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861233 +MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187510 MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with kleeblattschaedel MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with straight femurs and cloverleaf skull -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187770 MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187770 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracolaryngopelvic dysplasia -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 +MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 +MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombasthenia-thrombocytopenia, hereditary -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008554 thrombocythemia 1 skos:closeMatch OMIM:187950 thrombocythemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 +MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 +MONDO:0008554 thrombocythemia 1 skos:closeMatch OMIM:187950 thrombocythemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008555 thrombocytopenia 2 skos:closeMatch OMIM:188000 thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956093 +MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188025 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021245 +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch OMIM:188030 thrombocytopenic purpura, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch NCIT:C99107 Venous Thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous thrombosis -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous thrombosis MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombosis, protection against +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous thrombosis MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 5 leiden semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch NCIT:C99107 Venous Thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous thrombosis MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to activated protein c resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 5 leiden semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931366 +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb deformity and alopecia MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb deformity and alopecia MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188201 -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shprintzen syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym third and fourth pharyngeal pouch syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shprintzen syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catch22 MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digeorge syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 +MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takao vcf syndrome -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroglossal duct cyst, familial -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroglossal duct cyst, familial MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188455 MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495590 +MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroglossal duct cyst, familial +MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroglossal duct cyst, familial MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188470 MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonmedullary thyroid carcinoma, papillary +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial nonmedullary thyroid cancer, papillary MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance due to t4 plasma membrane transport defect -MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport +MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch NCIT:C43429 Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label defect -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188570 MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188580 -MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 -MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, infantile MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, infantile -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia +MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, infantile +MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861099 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188740 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym absent tibia-polydactyly syndrome +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia MONDO:0008575 nicotine dependence skos:closeMatch NCIT:C35074 Tobacco Use Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tobacco use disorder MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:closeMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic eruption of teeth -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypodontia-dysplasia of nails syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189500 +MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypodontia-dysplasia of nails syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406735 -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia with hypodontia MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witkop syndrome -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome MONDO:0008583 inherited torticollis skos:exactMatch NCIT:C182201 Torticollis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torticollis +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preg1 MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxemia of pregnancy MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preg1 -MONDO:0008585 HELLP syndrome skos:closeMatch NCIT:C34943 Toxemia of Pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toxemia of pregnancy -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189960 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch NCIT:C35080 Tracheoesophageal Fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 +MONDO:0008585 HELLP syndrome skos:closeMatch NCIT:C34943 Toxemia of Pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toxemia of pregnancy +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheoesophageal fistula with or without esophageal atresia MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal atresia with or without tracheoesophageal fistula -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189960 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch NCIT:C35080 Tracheoesophageal Fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189961 -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931589 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 +MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931589 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190100 MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trembling chin MONDO:0008590 tremor, hereditary essential, 1 skos:closeMatch OMIM:190300 tremor, hereditary essential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, familial essential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, nystagmus, and duodenal ulcer -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tremor, nystagmus, and duodenal ulcer -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190310 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860860 -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodentoosseous syndrome +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190310 +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tremor, nystagmus, and duodenal ulcer +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, nystagmus, and duodenal ulcer MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodentoosseous syndrome MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190320 MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 +MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodentoosseous syndrome MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190330 MONDO:0008593 trichomegaly skos:closeMatch OMIM:190330 trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodiscomas, familial multiple -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym discoid fibromas, familial multiple -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple trichodiscomas MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190340 +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym discoid fibromas, familial multiple MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label discoid fibromas, familial multiple -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple trichodiscomas MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugio-kajii syndrome +MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sugio-kajii syndrome MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190351 -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860822 -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodysplasia-xeroderma MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodysplasia-xeroderma -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 +MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 +MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860822 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040997 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190400 MONDO:0008599 trigeminal neuralgia skos:closeMatch OMIM:190400 trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tic douloureux -MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190440 -MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs and dislocation of patella +MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic +MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs and dislocation of patella -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 +MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs and dislocation of patella +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs with brachyectrodactyly +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs with brachyectrodactyly MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190680 -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs with brachyectrodactyly -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs with brachyectrodactyly -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, megakaryoblastic, of down syndrome -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome chromosome region -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient myeloproliferative disorder of down syndrome MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome critical region -MONDO:0008608 Down syndrome skos:closeMatch NCIT:C101222 Complete Trisomy 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label complete trisomy type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044688 -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 -MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044688 +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, megakaryoblastic, of down syndrome +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome critical region +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch NCIT:C101222 Complete Trisomy 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label complete trisomy type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome chromosome region MONDO:0008609 Tristichiasis skos:closeMatch OMIM:190800 tristichiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, three rows of +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritan +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blue colorblindness +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190900 MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155017 -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blue colorblindness -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritan -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191000 +MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlea of the humerus, aplasia of MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trochlea of the humerus, aplasia of -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191100 +MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch NCIT:C9039 Cervical Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical carcinoma MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical carcinoma, tumor-suppressor gene involved type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tone deafness MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysmelodia +MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tone deafness MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amusia, congenital -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, hypoplasia of -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, hypoplasia of MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, hypoplasia of +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, hypoplasia of MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia +MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 +MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191440 -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia +MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uncombable hair syndrome +MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili trianguli et canaliculi +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uncombable hair syndrome MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uncombable hair syndrome -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili trianguli et canaliculi -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 +MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uncombable hair syndrome MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly +MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 +MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 MONDO:0008623 Undritz anomaly skos:closeMatch OMIM:191500 undritz anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersegmentation of nuclei of polymorphonuclear leukocytes MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860596 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191520 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 MONDO:0008624 Upington disease skos:closeMatch OMIM:191520 upington disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perthes-like hip disorder, enchondromata, and ecchondromata semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureter, cancer of MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureter, cancer of +MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureter, cancer of MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:closeMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, uric acid, autosomal dominant -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NCIT:C119054 Muckle-Wells Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064569 -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uda syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NCIT:C119054 Muckle-Wells Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192050 -MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uvula, bifid +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, cleft MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, bifid -MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym varicose veins +MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uvula, bifid MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label varicose veins +MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym varicose veins +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroretinal vasculopathy, hereditary +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192315 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860518 -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroretinal vasculopathy, hereditary MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1735591 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220708 -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192350 -MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater/vacterl association +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater/vacterl association -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192430 -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome +MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater/vacterl association MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome +MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192430 MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular extrasystoles with syncope, perodactyly, and robin sequence MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular extrasystoles with syncope, perodactyly, and robin sequence MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192445 -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric septal hypertrophy -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular hypertrophy, hereditary -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular hypertrophy, hereditary +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric septal hypertrophy MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh MONDO:0008648 ventricular tachycardia, familial skos:closeMatch OMIM:192605 ventricular tachycardia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, familial polymorphic MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860464 -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral fusion, posterior lumbosacral, with blepharoptosis MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral fusion, posterior lumbosacral, with blepharoptosis -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral fusion, posterior lumbosacral, with blepharoptosis +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertical talus, congenital -MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertical talus, congenital MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pes valgus, congenital convex -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rocker-bottom foot -MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193000 +MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertical talus, congenital +MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 +MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux +MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193000 MONDO:0008654 nystagmus 4, congenital, autosomal dominant skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vestibulocerebellar disorder with predominant ocular signs MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin pseudodeficiency due to transcobalamin deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r binder deficiency with lactoferrin deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn1 deficiency -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency with lactoferrin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193090 MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin r binder protein deficiency +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193090 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency with lactoferrin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets, autosomal dominant MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193100 MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal dominant -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets, autosomal dominant MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342642 MONDO:0008661 vitiligo skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitiligo -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy with microcornea, glaucoma, and cataract -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitreoretinochoroidopathy +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos +MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193240 +MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord paralysis and ptosis MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord paralysis and ptosis MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860403 -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord paralysis and ptosis +MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193240 MONDO:0008666 volvulus of midgut skos:closeMatch OMIM:193250 volvulus of midgut semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal malrotation, familial +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch OMIM:193300 von hippel-lindau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von hippel-lindau syndrome, modifiers of -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193300 +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847800 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 +MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847800 +MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome with dystopia canthorum -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome without dystopia canthorum -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 +MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 +MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome without dystopia canthorum MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 +MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis with cafe-au-lait spots MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cafe-au-lait spots with pulmonic stenosis MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch OMIM:193530 weyers acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrodental dysostosis of weyers @@ -7756,1033 +7653,1017 @@ MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Ac MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 +MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 -MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon +MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukokeratosis, hereditary mucosal MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 -MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, type 1.5- to type 1.8-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049644 -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 -MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastoma -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephroblastoma +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049644 +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 +MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, type 1.5- to type 1.8-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194070 +MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephroblastoma +MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastoma MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194071 -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931803 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194072 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206115 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931803 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194080 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, wilms tumor, and genital anomalies MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor and pseudo- or true hermaphroditism MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194090 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch OMIM:194190 wolf-hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 4p16.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194190 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 -MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preexcitation syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch OMIM:194190 wolf-hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 4p16.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wpw syndrome +MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preexcitation syndrome MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory atrioventricular pathways MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048017 -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, autosomal dominant -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194350 +MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis, hereditary +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis, hereditary -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194400 -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194470 -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albumin binding of zinc, elevated MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia, familial dysalbuminemic -MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bassen-kornzweig syndrome +MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia +MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194470 MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis +MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bassen-kornzweig syndrome MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtp deficiency MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microsomal triglyceride transfer protein deficiency MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200100 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200110 +MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200110 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860224 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ablepharon-macrostomia syndrome -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 +MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent eyebrows and eyelashes with mental retardation MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label absent eyebrows and eyelashes with mental retardation -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with neurologic disorder +MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch NCIT:C84926 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200150 -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans with muscle cramps and acral enlargement MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans with muscle cramps and acral enlargement MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200170 -MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achalasia +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans with muscle cramps and acral enlargement MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia +MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achalasia MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal achalasia MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860212 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200450 +MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 +MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrogenesis imperfecta -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 +MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis +MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrogenesis imperfecta MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265260 MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200700 +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265260 +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200700 acromesomelic dysplasia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondrogenesis, brazilian MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268410 MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200950 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200970 -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 -MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome +MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome +MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200970 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860166 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 +MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-mandibular syndrome +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrorenal-mandibular syndrome MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-uterine-mandibular syndrome MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand and split-foot with mandibular hypoplasia -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrorenal-mandibular syndrome -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-mandibular syndrome -MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux duplication, postaxial polydactyly, and absence of corpus callosum -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200990 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860166 MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796147 +MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200990 +MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux duplication, postaxial polydactyly, and absence of corpus callosum +MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495588 MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elejalde syndrome -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200995 -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201000 +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 +MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201000 MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 +MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 +MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201050 MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860145 -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201100 MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201100 +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201170 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis syndrome of rodriguez -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofacial dysostosis syndrome of rodriguez -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodriguez lethal acrofacial dysostosis syndrome MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofacial dysostosis syndrome of rodriguez +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis syndrome of rodriguez +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodriguez lethal acrofacial dysostosis syndrome +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym affn dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860118 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym affn dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406584 -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201200 -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 -MONDO:0008716 acrogeria skos:closeMatch OMIM:201200 acrogeria, gottron iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metageria MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406584 +MONDO:0008716 acrogeria skos:closeMatch OMIM:201200 acrogeria, gottron iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metageria +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201200 MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201250 MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 -MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201310 MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796290 +MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201310 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital isolated acth deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth deficiency, isolated MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth deficiency, isolated -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120433 Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocorticotropic hormone deficiency -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220710 +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, medium-chain, deficiency of -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcadh deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcadh deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220710 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, short-chain, deficiency of -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, short-chain, deficiency of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scadh deficiency -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887523 +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201475 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, very long-chain, deficiency of MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, very long-chain, deficiency of MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201550 -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342474 +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid congenital adrenal hyperplasia MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid congenital adrenal hyperplasia MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342474 MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201750 -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NCIT:C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-beta-hydroxysteroid dehydrogenase deficiency -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenism, nonclassic type, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyp21 deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 21-hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenism, nonclassic type, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NCIT:C131087 21-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 21-hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p450c11b1 deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 11-beta-hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268292 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p450c11b1 deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase deficiency -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 11-beta-hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859978 MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202150 -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202155 -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical carcinoma, pediatric MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 -MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency due to defect distal to acth receptor +MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical carcinoma, pediatric MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202355 -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 +MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency due to defect distal to acth receptor MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afibrinogenemia, congenital -MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital -MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia, congenital +MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 +MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial afibrinogenemia +MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afibrinogenemia, congenital +MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia, congenital +MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C98130 Afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C26692 Factor I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label factor i deficiency -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 -MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C98130 Afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202650 MONDO:0008740 agnathia-otocephaly complex skos:closeMatch OMIM:202650 agnathia-otocephaly complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgnathia complex agnathia-holoprosencephaly -MONDO:0008741 PAGOD syndrome skos:closeMatch OMIM:202660 pagod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agonadism with multiple internal malformations +MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202650 MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia +MONDO:0008741 PAGOD syndrome skos:closeMatch OMIM:202660 pagod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agonadism with multiple internal malformations +MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alar-nasal cartilages, coloboma of, with telecanthus MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia with alar clefts +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alar-nasal cartilages, coloboma of, with telecanthus MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia with alar clefts MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203000 MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859964 -MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch NCIT:C168731 Oculocutaneous Albinism Type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203200 +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, brown oculocutaneous +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown oculocutaneous albinism -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xanthism -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xanthism +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta storage pool disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203330 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism-microcephaly-digital anomalies syndrome +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism-microcephaly-digital anomalies syndrome -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism-microcephaly-digital anomalies syndrome MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203400 +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002066 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931645 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203500 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002066 MONDO:0008753 alkaptonuria skos:closeMatch OMIM:203500 alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aku -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203550 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931645 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-contractures-dwarfism mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203550 +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-contractures-dwarfism mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-contractures-dwarfism mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 -MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-epilepsy-oligophrenia syndrome of moynahan MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moynahan alopecia syndrome MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-epilepsy-oligophrenia syndrome of moynahan +MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-epilepsy-oligophrenia syndrome of moynahan MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203600 MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amr syndrome -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 MONDO:0008757 alopecia universalis congenita skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal degeneration of childhood with liver disorder, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-kgd deficiency -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-ketoglutarate dehydrogenase deficiency -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-kgd deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-ketoglutarate dehydrogenase deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-ktd deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial acetoacetyl-coa thiolase deficiency MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-methylacetoacetic aciduria -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-ktd deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203750 -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial acetoacetyl-coa thiolase deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068783 +MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204000 -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204100 +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204000 MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204100 +MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204110 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amaurosis congenita, cone-rod type, with congenital hypertrichosis -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, juvenile MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt-spielmeyer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spielmeyer-sjogren disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, juvenile MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln4a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln4a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln2 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, local hypoplastic type, autosomal recessive MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204690 MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 +MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic, with nephrocalcinosis -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia1 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia1 MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia1 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia1 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204750 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204870 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339273 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, gelatinous drop-like -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, corneal MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgdl +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, corneal +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, gelatinous drop-like MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, gelatinous drop-like -MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204870 +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339273 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 +MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205100 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als, juvenile MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-dementia complex MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205250 -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051875 -MONDO:0008783 Tangier disease skos:closeMatch OMIM:205400 tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tgd +MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039292 +MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051875 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 +MONDO:0008783 Tangier disease skos:closeMatch OMIM:205400 tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tgd MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 +MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 +MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 -MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, pyridoxine-responsive, autosomal recessive -MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, pyridoxine-responsive, autosomal recessive MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital sideroblastic, b6-responsive +MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, pyridoxine-responsive, autosomal recessive +MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, pyridoxine-responsive, autosomal recessive +MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206100 -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206200 -MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron-handling disorder, hereditary MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-iron-deficiency anemia +MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron-handling disorder, hereditary MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206500 -MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipomatosis, familial -MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiolipomatosis, familial MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipoma microthromboticum -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 +MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipomatosis, familial MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 +MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 +MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiolipomatosis, familial MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:closeMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym divry-van bogaert syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, cerebellar ataxia, and mental retardation -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gillespie syndrome +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206700 +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206700 -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia, partial, with unilateral renal agenesis and psychomotor retardation +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859782 MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206750 -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, permanent, absence of -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anodontia of permanent dentition MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002583 +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, permanent, absence of +MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206780 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206780 +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anodontia of permanent dentition +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia congenita totalis MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia totalis MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia congenita -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia totalis MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with associated anomalies +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-esophageal-genital syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch OMIM:206920 microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-syndactyly MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206920 -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures MONDO:0008803 Antley-Bixler syndrome skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangy with hemivertebrae -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangy with hemivertebrae -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207620 -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207620 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangy with hemivertebrae +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangy with hemivertebrae MONDO:0008807 apnea, central sleep skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with intestinal lymphangiectasia -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with intestinal lymphangiectasia +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930955 +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital extensor muscle aplasia-polyneuropathy -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apoc2 deficiency -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c-ii anapolipoproteinemia +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein c-ii deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268199 -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720779 +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c-ii anapolipoproteinemia +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apoc2 deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly -MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xk aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795952 MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 +MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly syndrome +MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly syndrome -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342280 +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 -MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078981 -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 +MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342280 +MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 +MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 +MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078981 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 MONDO:0008814 hyperargininemia skos:closeMatch OMIM:207800 argininemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arg1 deficiency -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch OMIM:207900 argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argininosuccinate lyase deficiency +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207900 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch OMIM:207900 argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argininosuccinate lyase deficiency MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 -MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arnold-chiari malformation MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207950 -MONDO:0008816 Chiari malformation type II skos:closeMatch NCIT:C84570 Arnold-Chiari Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arnold-chiari malformation -MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm2 MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056945 -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary sclerosis, medial, of infancy +MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arnold-chiari malformation +MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm2 +MONDO:0008816 Chiari malformation type II skos:closeMatch NCIT:C84570 Arnold-Chiari Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arnold-chiari malformation MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriopathy, occlusive infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification, idiopathic infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaci -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208000 -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208000 +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary sclerosis, medial, of infancy MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859726 MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208050 MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial tortuosity -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208085 MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 +MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208100 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal akinesia deformation sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, whistling face, and developmental retardation -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label illum syndrome +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859711 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label illum syndrome +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, whistling face, and developmental retardation MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859710 +MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with hyperkeratosis MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis with hyperkeratosis -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthropathy, progressive pseudorheumatoid, of childhood -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppd -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive pseudorheumatoid dysplasia -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive pseudorheumatoid dysplasia MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthropathy, progressive pseudorheumatoid, of childhood MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic synovitis, congenital familial -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosing serositis, familial -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive pseudorheumatoid dysplasia +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppd +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive pseudorheumatoid dysplasia +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208250 +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosing serositis, familial +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic synovitis, congenital familial +MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascites, chylous +MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ascites, chylous +MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003446 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208300 -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 -MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ascites, chylous MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 -MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascites, chylous -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068220 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268225 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208400 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268225 MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoasparaginase -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeune syndrome -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracic-pelvic-phalangeal dystrophy +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208500 -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right isomerism -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracic-pelvic-phalangeal dystrophy MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotaxy, visceroatrial, autosomal recessive +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia +MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068335 +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right isomerism MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysplenia syndrome -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vah, autosomal recessive MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208540 +MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, aspirin-induced, susceptibility to MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asa triad MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and nasal polyps -MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, aspirin-induced, susceptibility to MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208850 -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adr syndrome MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-retardation syndrome MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-retardation syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adr syndrome MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:closeMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc syndrome +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group e MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group d -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group a -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003594 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208910 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208920 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia syndrome -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with hypoalbuminemia -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia syndrome +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209300 MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521802 +MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209300 MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 -MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotransferrinemia, familial MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transferrin serum level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotransferrinemia, familial MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859592 MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209500 MONDO:0008848 atrioventricular dissociation skos:closeMatch OMIM:209600 atrioventricular dissociation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym a-v dissociation -MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata -MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ava MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata +MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ava MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy +MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, multiple congenital anomalies, and mental retardation MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aural atresia, multiple congenital anomalies, and mental retardation MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barber-say syndrome +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 +MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 -MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class ii deficiency -MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr1 deficiency, autosomal recessive MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 27a, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 -MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 -MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27a semapv:RegularExpressionReplacement +MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859526 -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209970 +MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beemer lethal malformation syndrome MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beemer lethal malformation syndrome MONDO:0008858 Behr syndrome skos:closeMatch OMIM:210000 behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile hereditary, with neurologic abnormalities -MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label behr syndrome -MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:closeMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral aneurysm-cirrhosis syndrome +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baib urinary excretion -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylcrotonyl-coa carboxylase deficiency -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc2 deficiency -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210210 -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 -MONDO:0008863 sitosterolemia skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytosterolemia +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc2 deficiency MONDO:0008863 sitosterolemia skos:closeMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia/stomatocytosis, mediterranean +MONDO:0008863 sitosterolemia skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytosterolemia MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063985 MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342907 MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 +MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 +MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859487 MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210350 -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bietti crystalline dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bietti crystalline corneoretinal dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bietti crystalline corneoretinal dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859486 +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti tapetoretinal degeneration with marginal corneal dystrophy -MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median fissure of nose MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nose, median cleft of +MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median fissure of nose MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210400 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated biliary atresia -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003650 -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 MONDO:0008868 biliary malformation with renal tubular insufficiency skos:closeMatch OMIM:210550 biliary malformation with renal tubular insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestatic jaundice and renal tubular insufficiency MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanocephalic dwarfism -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephalic primordial dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210600 MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seckel-type dwarfism -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210700 +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanocephalic dwarfism +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephalic primordial dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephalic primordial dwarfism, montreal type +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210700 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism, montreal type -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210710 -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210720 +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210730 +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210720 MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210730 +MONDO:0008874 Bangstad syndrome skos:closeMatch OMIM:210740 bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 -MONDO:0008874 Bangstad syndrome skos:closeMatch OMIM:210740 bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with ptosis, syndactyly, and short stature -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 +MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with ptosis, syndactyly, and short stature MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 +MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005859 MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth restriction, and increased sister chromatid exchange type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 +MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 +MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 MONDO:0008877 blue diaper syndrome skos:closeMatch OMIM:211000 blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial, with nephrocalcinosis and indicanuria -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859407 MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211120 -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch OMIM:211180 bowen-conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowen hutterite syndrome, formerly -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211180 +MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859407 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 +MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211180 +MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 +MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch OMIM:211180 bowen-conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowen hutterite syndrome, formerly MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 MONDO:0008881 kyphomelic dysplasia skos:closeMatch OMIM:211350 kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing, congenital, with short bones +MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 -MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211355 -MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054064 -MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of long bones, asymmetric and symmetric MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bowing of long bones, asymmetric and symmetric +MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of long bones, asymmetric and symmetric +MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054064 +MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211355 MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211370 MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859385 MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211380 MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch OMIM:211390 sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle hair and mental deficit MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211400 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C85195 Tracheobronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchomalacia MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040021 +MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 MONDO:0008889 thromboangiitis obliterans skos:closeMatch NCIT:C35070 Buerger Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bulbar palsy, progressive, of childhood MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 +MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bulbar palsy, progressive, of childhood +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NCIT:C84453 Progressive Familial Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211750 -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 MONDO:0008893 C syndrome skos:closeMatch OMIM:211750 c syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 +MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 +MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211750 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch OMIM:211770 cahmr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, hypertrichosis, mental retardation syndrome +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch OMIM:211800 calcification of joints and arteries semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification due to deficiency of cd73 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211800 -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 +MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome +MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical lymphocele with bowed long bones MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859371 MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 -MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical lymphocele with bowed long bones -MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 +MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859359 +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciothoracoskeletal syndrome +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211920 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859356 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases -MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung cancer, protection against +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer -MONDO:0008903 lung cancer skos:closeMatch NCIT:C3200 Lung Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung neoplasm MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar cell carcinoma +MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung cancer, protection against +MONDO:0008903 lung cancer skos:closeMatch NCIT:C3200 Lung Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung neoplasm MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211990 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card9 immunodeficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card9 immunodeficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212065 -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch OMIM:212065 congenital disorder of glycosylation, iia ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaeken syndrome +MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 +MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212065 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iia -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931008 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, growth retardation, prominent columella, and open mouth +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkuraya syndrome -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931008 MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:closeMatch OMIM:212067 congenital disorder of glycosylation, iia i/iix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg-x MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212080 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796031 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796083 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy with primary testicular failure +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genital anomaly with cardiomyopathy +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with hypergonadotropic hypogonadism MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with premature ovarian failure MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with hypergonadotropic hypogonadism MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796083 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796031 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genital anomaly with cardiomyopathy MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212135 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212138 +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, systemic primary -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine transporter, plasma-membrane, deficiency of -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, primary -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine uptake defect -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic carnitine deficiency MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine uptake defect +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, primary +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine transporter, plasma-membrane, deficiency of +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, systemic primary MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine deficiency, systemic primary -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212200 +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495555 -MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocarnosinosis +MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212200 MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocarnosinosis +MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocarnosinosis +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212350 +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy and cataract -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859317 -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 10 (cardiomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859316 +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212360 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859316 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract and congenital ichthyosis @@ -8790,274 +8671,267 @@ MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:21240 MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212500 MONDO:0008926 COFS syndrome skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cofs syndrome MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220722 -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212710 -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic disc anomalies with retinal and/or macular dystrophy MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract-ataxia-deafness-retardation syndrome MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy-cataract-deafness syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212710 +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac sprue, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212780 MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cenani-lenz syndrome -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859309 +MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212780 MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cenani syndactylism +MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859309 MONDO:0008932 premature centromere division skos:closeMatch OMIM:212790 premature centromere division semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-chromosome centromere peculiarity +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia and ectodermal dysplasia +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and ectodermal dysplasia MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859306 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212835 -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and ectodermal dysplasia -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia and ectodermal dysplasia -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon holmes syndrome -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhrh deficiency and ataxia -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon holmes syndrome +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212840 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone-releasing hormone, deficiency of, with ataxia MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and hypogonadotropic hypogonadism -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212840 -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhrh deficiency and ataxia +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon holmes syndrome +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon holmes syndrome MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:closeMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with loss of pain and temperature sensation -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393520 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008033 -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granular cell hypoplasia and mental retardation, congenital +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granular cell hypoplasia and mental retardation, congenital +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebelloparenchymal disorder type 3 -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213200 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859298 -MONDO:0008944 Joubert syndrome 1 skos:closeMatch NCIT:C74996 Joubert Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213200 MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssynergia cerebellaris myoclonica of hunt -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008944 Joubert syndrome 1 skos:closeMatch NCIT:C74996 Joubert Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome +MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 +MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsay hunt syndrome MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssynergia cerebellaris myoclonica of hunt -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ramsay hunt syndrome +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssynergia cerebellaris myoclonica of hunt MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinodentate atrophy +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ramsay hunt syndrome MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym idiopathic basal ganglia calcification MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NCIT:C179297 Idiopathic Basal Ganglia Calcification semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label idiopathic basal ganglia calcification -MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial brain calcification MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059626 +MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial brain calcification +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C120031 CTX semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctx -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cholesterinosis -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213700 +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213900 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group e +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group e +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214300 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal recessive MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs, autosomal recessive -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008959 CHAND syndrome skos:closeMatch OMIM:214350 chand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214300 MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406733 +MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214350 +MONDO:0008959 CHAND syndrome skos:closeMatch OMIM:214350 chand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214370 +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label charcot-marie-tooth disorder-deafness-intellectual disability syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label charcot-marie-tooth disorder-deafness-intellectual disability syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214370 -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214400 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 +MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym griscelli syndrome with neurologic impairment -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial albinism and primary neurologic disorder without hemophagocytic syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial albinism and primary neurologic disorder without hemophagocytic syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym griscelli syndrome with neurologic impairment +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008415 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007965 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008415 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital chloride diarrhea -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloridorrhea, congenital MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 +MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265354 -MONDO:0008965 CHARGE syndrome skos:closeMatch OMIM:214800 charge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064063 -MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008965 CHARGE syndrome skos:closeMatch OMIM:214800 charge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome -MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls +MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-cholestasis syndrome MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis-lymphedema syndrome -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214950 -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215045 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 +MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215045 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophia calcificans punctata MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata syndrome +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata syndrome +MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata syndrome MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215105 -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 +MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moth-eaten skeletal dysplasia MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops-ectopic calcification-moth-eaten skeletal dysplasia +MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931048 MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hem skeletal dysplasia -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moth-eaten skeletal dysplasia +MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-insley syndrome -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008479 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008747 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chordoma, susceptibility to -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215400 +MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 +MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to +MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chordoma, susceptibility to MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215450 -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859098 MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign hereditary chorea +MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859098 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859093 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215470 MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus calcification and mental retardation MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus calcification and mental retardation -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus calcification and mental retardation MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rutland ciliary disorientation syndrome MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215518 +MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rutland ciliary disorientation syndrome MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215520 -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement -MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia, classic MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia, classic +MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinuria +MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia, classic MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215700 +MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058298 -MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinuria -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 MONDO:0008990 cleft larynx, posterior skos:closeMatch OMIM:215800 cleft larynx, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stridor, congenital -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859082 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft-limb-heart malformation syndrome -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 +MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft-limb-heart malformation syndrome MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clh syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft-limb-heart malformation syndrome MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215850 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859082 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch OMIM:216100 juberg-hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with abnormal thumbs and microcephaly -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, deafness, and oligodontia -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, deafness, and oligodontia +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216300 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859081 +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, deafness, and oligodontia +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, deafness, and oligodontia MONDO:0008994 cleidocranial dysplasia, recessive form skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216330 +MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857663 +MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216340 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216340 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch OMIM:216340 yunis-varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857663 -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, obesity, and prominent incisors -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chs1, formerly -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepper syndrome +MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coh -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenosis, familial reactive perforating -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenosis, familial reactive perforating -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepper syndrome +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chs1, formerly +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, obesity, and prominent incisors +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857624 +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenosis, familial reactive perforating +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenosis, familial reactive perforating MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216800 -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma of macula and skeletal anomalies MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of macula and skeletal anomalies +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma of macula and skeletal anomalies MONDO:0009002 coloboma, ocular, autosomal recessive skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216820 -MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total +MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216900 MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch NCIT:C119991 C1r/C1s Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c1r/c1s deficiency MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch OMIM:216950 complement component c1r/c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1r/c1s deficiency MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216950 -MONDO:0009006 complement component 2 deficiency skos:closeMatch OMIM:217000 complement component 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c2 deficiency MONDO:0009006 complement component 2 deficiency skos:closeMatch NCIT:C119992 C2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c2 deficiency MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217000 -MONDO:0009007 Jalili syndrome skos:closeMatch OMIM:217080 jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and amelogenesis imperfecta +MONDO:0009006 complement component 2 deficiency skos:closeMatch OMIM:217000 complement component 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c2 deficiency MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495589 MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217080 -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, hamartomas of tongue, and polysyndactyly +MONDO:0009007 Jalili syndrome skos:closeMatch OMIM:217080 jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and amelogenesis imperfecta MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, hamartomas of tongue, and polysyndactyly +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, hamartomas of tongue, and polysyndactyly MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931046 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 @@ -9068,39 +8942,39 @@ MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenem MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasminogenemia MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligneous conjunctivitis MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022599 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures, congenital, torticollis, and malignant hyperthermia +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractures, congenital, torticollis, and malignant hyperthermia -MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures, congenital, torticollis, and malignant hyperthermia MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217300 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and sensorineural deafness -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy and perceptive deafness -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpd1 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857572 +MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857572 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 -MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, band-shaped +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpd1 +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy and perceptive deafness +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and sensorineural deafness MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, band-shaped -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1622427 +MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, band-shaped MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217600 +MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1622427 +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal endothelial dystrophy MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217700 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hereditary endothelial dystrophy type ii -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal endothelial dystrophy -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital hereditary endothelial -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, corneal MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdc1, formerly -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024439 MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025406 -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and robin sequence +MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024439 +MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and robin sequence +MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and robin sequence MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217980 MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796184 MONDO:0009022 corpus callosum, agenesis of skos:closeMatch Orphanet:200 Isolated corpus callosum agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated corpus callosum agenesis @@ -9108,1162 +8982,1157 @@ MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome sk MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical blindness, retardation, and postaxial polydactyly MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218010 MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857568 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887949 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936861 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame1 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apparent mineralocorticoid excess MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol type 11-beta-ketoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame1 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887949 MONDO:0009026 Costello syndrome skos:closeMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with excess of muscle spindles +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0587248 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218090 +MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 +MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 MONDO:0009028 Crane-Heise syndrome skos:closeMatch OMIM:218090 crane-heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410539 MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218300 -MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensenbrenner syndrome MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 +MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensenbrenner syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218340 -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 +MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch NCIT:C148371 Temtamy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy syndrome -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dyssynostosis with short stature MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dyssynostosis with short stature -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dyssynostosis with short stature MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 +MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218450 MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfeiffer cardiocranial syndrome -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218450 -MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with fibular aplasia MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis with fibular aplasia -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome +MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with fibular aplasia +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baller-gerold syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218600 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baller-gerold syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857471 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218670 +MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 MONDO:0009043 generalized resistance to thyroid hormone skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crigler-najjar syndrome -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crigler-najjar syndrome MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 +MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crigler-najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crigler-najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218900 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795914 -MONDO:0009046 Fraser syndrome skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fraser syndrome +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome +MONDO:0009046 Fraser syndrome skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos with other malformations -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome -MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 -MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptorchidism, unilateral or bilateral +MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptorchidism, unilateral or bilateral +MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptorchidism, unilateral or bilateral MONDO:0009048 curved nail of fourth toe skos:closeMatch OMIM:219070 curved nail of fourth toe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-like fingers and toes -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NCIT:C113210 Cushing Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857449 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219095 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219095 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous photosensitivity and colitis, lethal MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous photosensitivity and colitis, lethal -MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, autosomal recessive MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219100 -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, corneal clouding, and mental retardation +MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, autosomal recessive MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 +MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, corneal clouding, and mental retardation MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219250 +MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 +MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219300 MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch OMIM:219300 cutis verticis gyrata and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvg/mr +MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268616 MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219500 MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220993 -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268616 +MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 +MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219700 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010674 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011762 -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219700 -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219721 -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857423 -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857423 MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931013 -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, benign nonnephropathic +MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, ocular nonnephropathic -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystinosis, adult nonnephropathic MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, adult nonnephropathic -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268626 +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystinosis, adult nonnephropathic +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, benign nonnephropathic MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268626 +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, intermediate -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 MONDO:0009070 D-glyceric aciduria skos:closeMatch OMIM:220120 d-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycerate kinase deficiency -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation +MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NCIT:C75012 Dandy-Walker Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation MONDO:0009072 Dandy-Walker syndrome skos:closeMatch OMIM:220200 dandy-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3c syndrome +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NCIT:C75012 Dandy-Walker Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ritscher-schinzel syndrome MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ritscher-schinzel syndrome +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3c syndrome MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220219 MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857352 +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220220 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with postaxial polydactyly MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with postaxial polydactyly -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb6 -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb3 -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with postaxial polydactyly +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb6 +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220290 +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb3 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eronen syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly due to absence of distal phalanges MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitorenocerebral syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eronen syndrome MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with split hands and feet MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split hand-split foot-deafness syndrome -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857344 MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857344 MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221200 -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and myopia MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness and myopia -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with malformed external ear -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with malformed external ear -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857341 +MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and myopia MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857341 +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with malformed external ear +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with malformed external ear MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with ptosis and skeletal anomalies MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with ptosis and skeletal anomalies -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221320 +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 +MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 +MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with vitiligo and achalasia MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with vitiligo and achalasia -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 +MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 +MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221745 -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with rigid cervical spine MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with pituitary dwarfism -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain-bone-fat disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, prefrontal, with bone cysts -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile dementia with bone cysts MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857316 +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasu-hakola disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile dementia with bone cysts MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221800 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432288 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch OMIM:221800 dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym francois syndrome -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 +MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirghizian dermatoosteolysis MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 +MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirghizian dermatoosteolysis -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment, nonsyndromic congenital MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221900 MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent fetal vasculature MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment and falciform detachment -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221995 -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification +MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment, nonsyndromic congenital MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification -MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221995 MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wfs +MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wfs MONDO:0009102 diaminopentanuria skos:closeMatch OMIM:222350 diaminopentanuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystine-lysinuria MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222400 -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 +MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 +MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch OMIM:222448 donnai-barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857276 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011999 -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012750 -MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dysplasia, broad bone-platyspondylic variant -MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diastrophic dysplasia +MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 -MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism +MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dysplasia, broad bone-platyspondylic variant MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance -MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysinuric protein intolerance -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222700 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268647 -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 -MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222730 -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222700 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857253 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222730 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpys deficiency -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dph deficiency -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 +MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857242 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diphosphoglycerate mutase deficiency of erythrocyte +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpgm deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bisphosphoglycerate mutase deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpgm deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglycerate mutase deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpgm deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpgm deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222800 +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diphosphoglycerate mutase deficiency of erythrocyte MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym si deficiency -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066387 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283620 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose intolerance, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sucrase-isomaltase deficiency, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrase-isomaltase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose intolerance, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose-isomaltose malabsorption, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283620 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066387 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223000 +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alactasia, congenital -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase deficiency, congenital -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857227 MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223330 -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch OMIM:223340 dk phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia, thrombocytopenia, encephalocele, urogenital malformations -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857226 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital +MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 +MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch OMIM:223340 dk phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia, thrombocytopenia, encephalocele, urogenital malformations MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 +MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital +MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223370 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 MONDO:0009126 duodenal atresia skos:closeMatch NCIT:C78260 Duodenal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duodenal stenosis MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:closeMatch OMIM:223540 dwarfism, mental retardation, and eye abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mollica syndrome -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265286 MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 +MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265286 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223900 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013364 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223900 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement MONDO:0009131 Riley-Day syndrome skos:closeMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysautonomia, familial MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysequilibrium syndrome +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 2 semapv:RegularExpressionReplacement MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary erythroblastic multinuclearity with positive acidified-serum test -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 1 semapv:RegularExpressionReplacement +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224230 -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224300 MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432262 -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 +MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224300 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224400 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432209 +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddrd MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia, silverman-handmaker type MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224410 +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt2 type -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224500 -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224500 +MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt2 type MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, absent patellae, micrognathia syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear, patella, short stature syndrome -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224690 +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224700 MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013481 -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eccrine tumors with ectodermal dysplasia MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schopf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224750 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schopf-schulz-passarge syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eccrine tumors with ectodermal dysplasia MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia and neurosensory deafness MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia and neurosensory deafness -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857053 -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225050 -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225050 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225100 MONDO:0009153 ectopia lentis et pupillae skos:closeMatch OMIM:225200 ectopia lentis et pupillae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis with ectopia of pupil MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225200 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 -MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome +MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225280 -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225290 MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857040 +MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225290 +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, autosomal recessive MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225300 -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fn abnormality +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cveds MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cveds -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225500 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225500 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:closeMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyon syndrome -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225750 -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicardi-goutieres syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856974 -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225753 -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856973 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225755 -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071718 +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 -MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226000 -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis +MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071718 MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014117 +MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226000 MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014663 +MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterokinase deficiency -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226200 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268416 -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226300 MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 +MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226300 MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226350 MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264005 -MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermodysplasia verruciformis -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever +MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014522 -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052339 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 +MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermodysplasia verruciformis MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermodysplasia verruciformis -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, late-onset localized junctional, with mental retardation -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, late-onset localized junctional, with mental retardation MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856969 MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226440 +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, late-onset localized junctional, with mental retardation +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, late-onset localized junctional, with mental retardation MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa with congenital deafness MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa progressiva, recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive, localisata variant +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, generalized severe, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica inversa, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive, localisata variant MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa inversa -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, severe nonlethal +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, localisata variant MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, generalized atrophic benign -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, localisata variant -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, severe nonlethal MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym md-ebs MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931072 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226670 -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz type MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226700 +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz type +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226730 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856934 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis with pyloric atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with gastrointestinal atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eb-pa-acc -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856934 -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226730 -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kohlschutter-tonz syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy and yellow teeth +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with gastrointestinal atresia +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis with pyloric atresia MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226750 -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, dementia, and amelogenesis imperfecta +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kohlschutter-tonz syndrome +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter-tonz syndrome MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406740 +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, dementia, and amelogenesis imperfecta MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter-tonz syndrome +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy and yellow teeth MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy with bilateral occipital calcifications MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy with bilateral occipital calcifications MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226810 -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy-telangiectasia -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226850 +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy-telangiectasia MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, autosomal recessive +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with bilayered patellae -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 4 semapv:RegularExpressionReplacement MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with clubfoot +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, autosomal recessive MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062600 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796021 -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226960 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 +MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432217 +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226980 +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432217 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 MONDO:0009194 immunodeficiency 32B skos:closeMatch OMIM:226990 immunodeficiency 32b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus, susceptibility to chronic infection by -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 +MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227010 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 +MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 +MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 MONDO:0009196 ermine phenotype skos:closeMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym black locks with albinism and deafness syndrome -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238478 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238478 MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroblastopenia, transient +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227090 MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 -MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, lethal congenital MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, lethal congenital +MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, lethal congenital MONDO:0009199 ethanolaminosis skos:closeMatch OMIM:227150 ethanolaminosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethanolamine kinase deficiency -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyebrows, duplication of, with stretchable skin and syndactyly -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eyebrows, duplication of, with stretchable skin and syndactyly -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227210 -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931219 -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227255 +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eyebrows, duplication of, with stretchable skin and syndactyly +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyebrows, duplication of, with stretchable skin and syndactyly MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism with multiple malformations MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism with multiple malformations +MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931219 +MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227255 +MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial ectodermal dysplasia MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciocardiomelic dysplasia, lethal -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856891 MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227270 -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856891 +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciocardiomelic dysplasia, lethal MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795936 +MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227310 MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciodigitogenital syndrome, autosomal recessive MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciodigitogenital syndrome, autosomal recessive +MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciodigitogenital syndrome, autosomal recessive MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227330 -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym owren parahemophilia +MONDO:0009210 congenital factor V deficiency skos:closeMatch NCIT:C131738 Factor V Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor v deficiency MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labile factor deficiency -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 +MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048930 -MONDO:0009210 congenital factor V deficiency skos:closeMatch NCIT:C131738 Factor V Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor v deficiency -MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016079 -MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor vii deficiency -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 +MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009212 congenital factor X deficiency skos:closeMatch NCIT:C131632 Factor X Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor x deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f10 deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009212 congenital factor X deficiency skos:closeMatch NCIT:C131632 Factor X Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor x deficiency +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f10 deficiency +MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facc +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group c MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch NCIT:C125704 Fanconi Anemia, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d2 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi pancytopenia +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad2 MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group a -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, estren-dameshek variant +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi pancytopenia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-phlorizin diabetes +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with fanconi nephropathy +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with amino aciduria and glucosuria MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with amino aciduria and glucosuria MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch NCIT:C168998 Glycogen Storage Disease Type XI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type xi semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with fanconi nephropathy -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ac deficiency -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268255 +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramidase deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-laurylsphingosine deacylase deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268255 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228000 -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramidase deficiency MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228020 -MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatosis of liver MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty metamorphosis of viscera +MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatosis of liver +MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068448 -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228200 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch OMIM:228200 femur-fibula-ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffu syndrome -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856789 -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228250 -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femur, unilateral bifid, with monodactylous ectrodactyly +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228200 MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label femur, unilateral bifid, with monodactylous ectrodactyly +MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femur, unilateral bifid, with monodactylous ectrodactyly +MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228250 +MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856789 MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228300 -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal iodine deficiency disorder MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal iodine deficiency disorder -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic cretinism -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 +MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal iodine deficiency disorder MONDO:0009224 fetal iodine syndrome skos:closeMatch NCIT:C98921 Endemic Cretinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endemic cretinism +MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 +MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic cretinism MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, congenital generalized MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibromatosis, juvenile MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228550 -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228560 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with distinctive facies +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228560 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with distinctive facies +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with distinctive facies +MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch OMIM:228600 hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis, systemic -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mediastinal fibrosis, familial MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retroperitoneal fibrosis, familial +MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mediastinal fibrosis, familial +MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228900 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856738 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia-complex brachydactyly syndrome +MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228930 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228940 -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856727 MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibuloulnar aplasia or hypoplasia with renal abnormalities MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibuloulnar aplasia or hypoplasia with renal abnormalities -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams trait +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228940 +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856727 +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, total +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmwk deficiency MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight and low molecular weight -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flaujeac trait -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams trait MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228960 -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, total +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flaujeac trait MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228980 -MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina, familial benign MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina, familial benign +MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina, familial benign +MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina of kandori +MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228990 MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina of kandori -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 -MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina of kandori -MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feh, oral -MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal epithelial hyperplasia, oral MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal epithelial hyperplasia, oral +MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal epithelial hyperplasia, oral +MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feh, oral +MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342705 MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folate malabsorption, hereditary -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folate malabsorption, hereditary MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicle-stimulating hormone deficiency, isolated -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch NCIT:C121142 Isolated Follicle Stimulating Hormone Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229070 -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch NCIT:C121142 Isolated Follicle Stimulating Hormone Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym figlu-uria +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym formiminotransferase deficiency -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268609 -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 -MONDO:0009241 fountain syndrome skos:closeMatch OMIM:229120 fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym figlu-uria MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009241 fountain syndrome skos:closeMatch OMIM:229120 fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009243 Fraser-like syndrome skos:closeMatch OMIM:229230 fraser-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused eyelids, airway anomalies, ovarian cysts, and digital anomalies -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontofacionasal dysostosis -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffnd -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931720 +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffnd +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontofacionasal dysostosis MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose intolerance, hereditary MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose-1-phosphate aldolase deficiency -MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldob deficiency MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fructose intolerance, hereditary MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase b deficiency +MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldob deficiency MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019878 -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229600 +MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016756 MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229700 -MONDO:0009252 essential fructosuria skos:closeMatch OMIM:229800 fructosuria, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fructokinase deficiency -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229800 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229800 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 +MONDO:0009252 essential fructosuria skos:closeMatch OMIM:229800 fructosuria, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fructokinase deficiency +MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229850 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220730 -MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies +MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230000 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016788 -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency -MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency -MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency -MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactose-1-phosphate uridylyltransferase deficiency MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, duarte variant +MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactose-1-phosphate uridylyltransferase deficiency +MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, classic -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia -MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230450 +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gangliosidosis, generalized gm1, infantile form -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 MONDO:0009263 GAPO syndrome skos:closeMatch OMIM:230740 gapo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, alopecia, pseudoanodontia, and optic atrophy MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230750 -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 -MONDO:0009264 gastroschisis skos:closeMatch OMIM:230750 gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal wall defects MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265706 +MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 +MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230750 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 +MONDO:0009264 gastroschisis skos:closeMatch OMIM:230750 gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal wall defects MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 -MONDO:0009265 Gaucher disease type I skos:closeMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 +MONDO:0009265 Gaucher disease type I skos:closeMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 MONDO:0009266 Gaucher disease type II skos:closeMatch OMIM:230900 gaucher disease, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 +MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 MONDO:0009267 Gaucher disease type III skos:closeMatch OMIM:231000 gaucher disease, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856476 -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231050 +MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856466 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopalatocardiac syndrome -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887495 MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231080 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia +MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alloimmune hepatitis, congenital MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemochromatosis, neonatal -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, neonatal -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alloimmune hepatitis, congenital +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal hepatitis, formerly MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhc MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nh -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal hepatitis, formerly -MONDO:0009275 neonatal hemochromatosis skos:closeMatch NCIT:C84446 Neonatal Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hepatitis -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231100 MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch NCIT:C84446 Neonatal Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hepatitis +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein ib deficiency +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand factor receptor deficiency +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein ib, platelet, deficiency of MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005129 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:603383 glaucoma 1, open angle, f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset +MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, congenital MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:602429 glaucoma 1, open angle, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:603383 glaucoma 1, open angle, f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, congenital MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addisonian-achalasia syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-addisonianism MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-adrenal insufficiency neurologic disorder +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-resistant adrenal insufficiency, achalasia and alacrima MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenalism with achalasia -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 MONDO:0009279 triple-A syndrome skos:closeMatch NCIT:C35710 Triple A Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-resistant adrenal insufficiency, achalasia and alacrima +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-addisonianism MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achalasia-alacrima syndrome +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-adrenal insufficiency neurologic disorder +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addisonian-achalasia syndrome MONDO:0009280 monosodium glutamate sensitivity skos:closeMatch OMIM:231630 monosodium glutamate sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chinese restaurant syndrome -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethylmalonic-adipicaciduria -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfb deficiency -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfdh deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethylmalonic-adipicaciduria MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfa deficiency +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfdh deficiency +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342873 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856399 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231950 -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltranspeptidase deficiency +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltransferase deficiency +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltranspeptidase deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggt deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtg deficiency +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal form of glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal form of glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 +MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ic +MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 +MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd1c +MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomegalia glycogenica diffusa +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1,4-glucosidase deficiency -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, generalized, cardiac form MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaa deficiency -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen debrancher deficiency +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, generalized, cardiac form +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiid semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen debrancher deficiency MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agl deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053249 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with deposition of abnormal glycogen -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brancher deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen branching enzyme deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbe1 deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, adult, with isolated myopathy MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, childhood -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, congenital +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053249 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbe1 deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen branching enzyme deficiency +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018462 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygm deficiency MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygm deficiency +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232600 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017925 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase deficiency glycogen-storage disorder of liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase deficiency glycogen-storage disorder of liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017925 +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfkm deficiency -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053241 MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle phosphofructokinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3245525 +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glys1 MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017980 +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal glucosuria MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal glucosuria -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glys1 MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosuria, renal -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal glucosuria MONDO:0009298 GOMBO syndrome skos:closeMatch OMIM:233270 gombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 @@ -10274,61 +10143,61 @@ MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrom MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis with sensorineural deafness MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, dhh-related -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, dhh-related -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, dhh-related MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, xy, male-limited +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856272 MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233430 -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403529 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018620 -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C34649 Goodpasture Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goodpasture syndrome +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403529 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233450 +MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C34649 Goodpasture Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goodpasture syndrome +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined cellular and humoral immune defects with granulomas +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673536 MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined cellular and humoral immune defects with granulomas -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233690 +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd, autosomal recessive cytochrome b-negative MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyba deficiency MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd due to deficiency of the alpha subunit of cytochrome b -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd, autosomal recessive cytochrome b-negative -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233700 +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233690 MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233710 +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233700 MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233710 MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of the macula MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of retinal pigment epithelium -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth factors, combined defect of -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin, insulin-like growth factor i, and epidermal growth factor deficiency -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth factors, combined defect of -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth factors, combined defect of MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233805 MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth factors, combined defect of +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin, insulin-like growth factor i, and epidermal growth factor deficiency +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931551 +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, small and puffy hands and feet, and eczema MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, small and puffy hands and feet, and eczema -MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, small and puffy hands and feet, and eczema +MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 +MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f12 deficiency MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haf deficiency -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015526 -MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency +MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f12 deficiency MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018523 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkan neuroaxonal dystrophy, juvenile-onset MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkan neuroaxonal dystrophy, juvenile-onset -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hall-riggs mental retardation syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hall-riggs mental retardation syndrome +MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hall-riggs mental retardation syndrome MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hallux varus and preaxial polysyndactyly @@ -10336,439 +10205,438 @@ MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856197 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019165 +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 +MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital +MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, congenital MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, congenital -MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, familial pulmonary capillary +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340548 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234820 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihypertrophy, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemihyperplasia, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemi-3 syndrome +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 MONDO:0009331 isolated hemihyperplasia skos:exactMatch NCIT:C88541 Hemihypertrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemihypertrophy -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235255 MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235255 MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235370 -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, typical +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235500 +MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235510 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic dysplasia, generalized -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235510 -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856128 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856128 +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856127 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856127 MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to hexokinase deficiency -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to hexokinase deficiency MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235700 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to hexokinase deficiency MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder-mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder-mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder-deafness-polydactyly syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235740 MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235760 -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220992 +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235800 +MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220992 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, familial lipochrome MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, familial lipochrome -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 -MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoma, hodgkin, classic MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chl -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoma, hodgkin, classic +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym demyer sequence +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 +MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, familial alobar -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 +MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym demyer sequence MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly +MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinencephaly MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268632 MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495554 -MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbs deficiency -MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria with or without response to pyridoxine -MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhomocysteinemia, thrombotic, cbs-related +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071093 MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhomocysteinemia, thrombotic, cbs-related +MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbs deficiency +MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria with or without response to pyridoxine MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236250 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate reductase deficiency -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236250 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856057 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria-megaloblastic anemia, cble complementation type -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial/multiple synostosis syndrome +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236400 -MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroosteonephosis syndrome MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cond -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroosteonephosis syndrome +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236500 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 +MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856052 -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with associated malformations MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with associated malformations -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, tall stature, joint laxity, and kyphoscoliosis +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856052 +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, tall stature, joint laxity, and kyphoscoliosis +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, tall stature, joint laxity, and kyphoscoliosis MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856051 MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236660 -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, agyria, and retinal dysplasia +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod-md syndrome MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, agyria, and retinal dysplasia MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod-md syndrome MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236680 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052312 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052312 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ochoa syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236730 MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ochoa syndrome MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, partial, with urinary abnormalities MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455988 MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrops fetalis, nonimmune -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops fetalis, nonimmune MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops fetalis, nonimmune +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrops fetalis, nonimmune MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888081 +MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855995 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236795 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268474 -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxykynureninuria +MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236795 +MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxykynureninuria MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, partial -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268474 MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236900 -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxylysinuria MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxylysinuria +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxylysinuria MONDO:0009374 hydroxyprolinemia skos:closeMatch OMIM:237000 hydroxyprolinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxy-l-proline oxidase deficiency +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237300 MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237300 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cps type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268630 MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237400 +MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268630 +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, rotor type MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220991 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, rotor type +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022350 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast milk jaundice MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperbilirubinemia, transient familial neonatal MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, transient familial neonatal MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237900 MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270210 -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone resistance, female -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia with male pseudohermaphroditism MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym compulsive reading MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious reading -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylomicronemia, familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, essential familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylomicronemia, familial +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipoproteinemia, type i -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance +MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 +MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine:alpha-ketoglutarate reductase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-lysine:nad-oxido-reductase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238710 MONDO:0009390 hyperlysinuria with hyperammonemia skos:closeMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlysinemia, periodic -MONDO:0009393 ornithine translocase deficiency skos:closeMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasia, familial idiopathic MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoectasia, familial +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239000 MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasemia, chronic congenital idiopathic MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal recessive +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperparathyroidism, neonatal severe +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsph -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe primary MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832615 MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239200 -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperparathyroidism, neonatal severe +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe primary +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239500 MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058513 +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058514 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058512 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931835 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym affn dysostosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis with genitourinary anomalies +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058512 MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, hypospadias, and polysyndactyly syndrome +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis with genitourinary anomalies +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym affn dysostosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220742 MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239800 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931676 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931676 MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855902 -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch OMIM:239850 cantu syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune polyendocrinopathy type 1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenocorticism with hypoparathyroidism and superficial moniliasis +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240300 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenocorticism with hypoparathyroidism and superficial moniliasis MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase pseudogene -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gulo, nonfunctional +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase pseudogene MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase, nonfunctional MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoascorbemia +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia due to taci deficiency MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to taci defect MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen synthase deficiency -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen synthase deficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240600 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855861 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch OMIM:240800 hypoglycemia, leucine-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leucine-sensitive hypoglycemia of infancy -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoinsulinemic hypoglycemia with hemihypertrophy +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240950 +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855859 MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism-cataract syndrome MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism-cataract syndrome MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts and testicular failure -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240950 -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855859 -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342286 +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241090 -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism and partial alopecia MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism and partial alopecia +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism and partial alopecia +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241090 MONDO:0009421 hypogonadism, male skos:closeMatch OMIM:241100 hypogonadism, male semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism and testicular atrophy MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:closeMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sweat gland hypoplasia MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemia, familial MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gullner syndrome -MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 MONDO:0009424 Bartter disease type 2 skos:closeMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 2, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism with short stature, mental retardation, and seizures -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay +MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241410 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855840 -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism with short stature, mental retardation, and seizures MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal recessive +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric rickets +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal recessive MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets with hypercalciuria, hereditary -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets with hypercalciuria, hereditary +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric rickets MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241530 +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets with hypercalciuria, hereditary MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241550 MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-mental retardation syndrome +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias-mental retardation syndrome +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-mental retardation syndrome MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241760 +MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537901 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537901 -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch OMIM:241850 bamforth-lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242050 MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, nonbullous congenital, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal recessive -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosiform erythroderma, corneal involvement, and deafness +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, nonbullous congenital, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmons syndrome MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kid syndrome, autosomal recessive +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal recessive MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242150 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosiform erythroderma, corneal involvement, and deafness MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1, with bathing suit distribution semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desquamation of newborn -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion fetus -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion fetus +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desquamation of newborn MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019163 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0239849 +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019163 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'harlequin fetus' @@ -10777,817 +10645,813 @@ MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syn MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242510 MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855788 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275088 -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242520 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, hepatosplenomegaly, and cerebellar degeneration MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, hepatosplenomegaly, and cerebellar degeneration -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855787 +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242520 +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242530 +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855787 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, mental retardation, dwarfism, and renal impairment -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268654 -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 +MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to defective radial spokes MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242670 MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242680 MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to excessively long cilia +MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 +MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymic aplasia MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymic aplasia -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 +MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855772 MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242840 -MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym centromeric instability, immunodeficiency syndrome -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency, variable, with centromeric instability of chromosomes type 1, type 9, and type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency syndrome, variable MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242860 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 +MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency syndrome, variable +MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency, variable, with centromeric instability of chromosomes type 1, type 9, and type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877024 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, channelopathy-associated +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymbolia for pain -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insensitivity to pain, congenital -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch NCIT:C125386 Indifference to Pain, Congenital, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal recessive MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403812 MONDO:0009461 spermatogenic failure 5 skos:closeMatch OMIM:243060 spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infertility associated with multitailed spermatozoa and excessive dna MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:closeMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1, defective t-cell response to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176622 Gastrointestinal Defects And Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum +MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028210 -MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243185 -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome +MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176622 Gastrointestinal Defects And Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intestinal pseudoobstruction with patent ductus arteriosus and natal teeth -MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial hypertension, idiopathic -MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243185 MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033845 +MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial hypertension, idiopathic MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243200 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym summerskill syndrome -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 1 semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 1 semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7p22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculofacial lymphatic syndrome -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, mental retardation, epilepsy, and characteristic facies -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris coloboma with ptosis, hypertelorism, and mental retardation MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243320 -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, slow -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, fast +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isoniazid inactivation, slow MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slow acetylator phenotype -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, slow MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fast acetylator phenotype +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, fast MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243440 MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome +MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isotretinoin embryopathy-like syndrome -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 -MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivd deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 MONDO:0009476 atresia of small intestine skos:closeMatch OMIM:243600 jejunal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apple peel small bowel syndrome MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 -MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C101027 Jejunal Atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal atresia MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 +MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C101027 Jejunal Atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal atresia +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 MONDO:0009477 Stromme syndrome skos:closeMatch OMIM:243605 stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 31, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 +MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal recessive MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hies, autosomal recessive +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch NCIT:C126343 DOCK8 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dock8 deficiency -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243800 -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym johanson-blizzard syndrome MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculohepatorenal syndrome +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome with bilateral chorioretinal coloboma +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, chorioretinal, with cerebellar vermis aplasia MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855675 MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, chorioretinal, with cerebellar vermis aplasia -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome with bilateral chorioretinal coloboma MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796005 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch OMIM:244300 kapur-toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long columella with cleft lip/palate and eye, heart, and intestinal anomalies MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch OMIM:244300 kapur-toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long columella with cleft lip/palate and eye, heart, and intestinal anomalies +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polynesian bronchiectasis MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia, bronchiectasis, and sinusitis MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kartagener syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244400 -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kartagener syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244400 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855663 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaufman oculocerebrofacial syndrome -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855648 +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoconus posticus circumscriptus MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus posticus circumscriptus MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpc with associated malformations MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244850 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia and onychogryposis -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochin jewish disorder -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia and onychogryposis +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochin jewish disorder +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:acetoacetate transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa-transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-oxoacid-coa transferase deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ketoacidosis due to scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinyl-coa:3-oxoacid-coa transferase deficiency -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-oxoacid-coa transferase deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-mental retardation syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richards-rundle syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-intellectual disability syndrome +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-mental retardation syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-intellectual disability syndrome MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855607 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome +MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis, brachytelephalangism, and calcification of cartilages MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keutel syndrome MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis, brachytelephalangism, and calcification of cartilages -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome -MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal +MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kniest-like dysplasia, lethal -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245190 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855605 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023492 +MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245200 MONDO:0009499 Krabbe disease skos:closeMatch OMIM:245200 krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosylceramide beta-galactosidase deficiency -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245300 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245340 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855577 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch OMIM:245340 erythrocyte lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactate transporter defect, myopathy due to -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 +MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855565 MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 +MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e3-binding protein deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, fatal infantile, formerly +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile lactic acidosis with methylmalonic aciduria -MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils +MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, fatal infantile, formerly MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency +MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 +MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245550 MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 -MONDO:0009507 Lambert syndrome skos:closeMatch OMIM:245550 lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245550 +MONDO:0009507 Lambert syndrome skos:closeMatch OMIM:245550 lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia MONDO:0009508 Lambotte syndrome skos:closeMatch OMIM:245552 lambotte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, holoprosencephaly, and intrauterine growth retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous spike and waves during slow-wave sleep syndrome -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, acquired, with epilepsy MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052075 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without mental retardation +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous spike and waves during slow-wave sleep syndrome +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NCIT:C168598 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, focal, with speech disorder and with or without mental retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without mental retardation +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:117100 centralopathic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen syndrome, autosomal recessive, formerly +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245600 -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen syndrome, autosomal recessive, formerly +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245650 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855535 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245660 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328355 +MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245660 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngoonychocutaneous syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch NCIT:C34760 Laurence-Moon Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023138 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurence-moon syndrome -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023138 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch NCIT:C34760 Laurence-Moon Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome MONDO:0009515 Norum disease skos:closeMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcat deficiency -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lcat deficiency -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855523 -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leg, absence deformity of, with congenital cataract MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leg, absence deformity of, with congenital cataract +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855523 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 +MONDO:0009517 Donohue syndrome skos:closeMatch OMIM:246200 donohue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265344 -MONDO:0009517 Donohue syndrome skos:closeMatch OMIM:246200 donohue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246300 MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis x, acute disseminated MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-s disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533587 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268601 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hmg-coa lyase deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hmg-coa lyase deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855504 MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246500 +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855504 MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246550 MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855502 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb defects, distal transverse, with mental retardation and spasticity MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb defects, distal transverse, with mental retardation and spasticity -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246555 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796001 +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246555 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb deficiencies, distal, with micrognathia -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome MONDO:0009525 split hand-foot malformation 3 skos:closeMatch NCIT:C75121 Split-Hand/Foot Malformation Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb deficiencies, distal, with micrognathia MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome -MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency +MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome +MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and hl deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and htgl deficiency +MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246650 -MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and hl deficiency -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246700 +MONDO:0009528 chylomicron retention disease skos:closeMatch OMIM:246700 chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid transport defect of intestine +MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795956 MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 -MONDO:0009528 chylomicron retention disease skos:closeMatch OMIM:246700 chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid transport defect of intestine -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym e3 deficiency MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoamide dehydrogenase deficiency, lactic acidosis due to -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym e3 deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 -MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 -MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023795 -MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265219 -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 +MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247200 -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miller-dieker syndrome chromosome region +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265219 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miller-dieker syndrome chromosome region MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism-lymphedema syndrome MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855477 -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism-lymphedema syndrome -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247610 MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264511 +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247610 MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062997 -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphomatous all -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lall -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukemia, acute lymphoblastic MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemia, acute lymphoblastic +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukemia, acute lymphoblastic MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247640 +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lall +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphomatous all MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247650 -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796024 MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247990 +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796024 MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248000 MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrosomia with microphthalmia, lethal MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrosomia with microphthalmia, lethal -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855467 MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248110 -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, with ocular involvement +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855467 MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular coloboma, bilateral, with hypercalciuria +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, with ocular involvement MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248190 -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, juvenile -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, juvenile +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248200 -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248250 +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, isolated renal +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248250 MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, childhood, self-limiting MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248300 MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de meleda -MONDO:0009554 3MC syndrome 3 skos:closeMatch OMIM:248340 3mc syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malpuech facial clefting syndrome, formerly MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248340 +MONDO:0009554 3MC syndrome 3 skos:closeMatch OMIM:248340 3mc syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malpuech facial clefting syndrome, formerly MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342793 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248360 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniomandibular dermatodysostosis +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniomandibular dermatodysostosis +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, autosomal recessive MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with mental retardation +MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, autosomal recessive MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with mental retardation -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 +MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with mental retardation MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label manitoba oculotrichoanal syndrome +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome -MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, alpha b, lysosomal -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label manitoba oculotrichoanal syndrome MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024748 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 -MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, alpha b, lysosomal +MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, alpha b, lysosomal MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-mannosidase b deficiency MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, alpha b, lysosomal MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal beta-mannosidase deficiency MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, beta a, lysosomal +MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal beta-mannosidase deficiency MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, beta a, lysosomal +MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 +MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248510 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024776 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keto acid decarboxylase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, classic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermediate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermittent semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, thiamine-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024776 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermittent semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248700 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker syndrome MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248700 MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus with microcephaly and glomerulonephritis +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid habitus with microcephaly and glomerulonephritis MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855348 MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248760 -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid habitus with microcephaly and glomerulonephritis -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus with microcephaly and glomerulonephritis -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid mental retardation syndrome, autosomal -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid mental retardation syndrome, autosomal MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855347 MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248770 -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marinesco-sjögren syndrome +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid mental retardation syndrome, autosomal +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid mental retardation syndrome, autosomal MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248800 +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marinesco-sjögren syndrome MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024814 -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248900 +MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 MONDO:0009568 mast syndrome skos:closeMatch OMIM:248900 mast syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 21, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248910 -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous mastocytosis, conductive hearing loss and microtia MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous mastocytosis, conductive hearing loss and microtia +MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous mastocytosis, conductive hearing loss and microtia MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248950 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome +MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248950 MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mes -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gruber syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gruber syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, recurrent +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, familial paroxysmal +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, recurrent +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249100 +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009574 megalencephaly with dysmyelination skos:closeMatch OMIM:249240 megalencephaly with dysmyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly with diffuse white matter hypodensity -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine-responsive anemia syndrome MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 1 (megaloblastic anemia, diabetes mellitus, and deafness type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine-responsive anemia syndrome MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megalocornea -MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalocornea -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuhauser syndrome -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea-mental retardation syndrome +MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalocornea MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea-mental retardation syndrome +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea-mental retardation syndrome +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuhauser syndrome MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249310 MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796086 +MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanosis, neurocutaneous MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis, neurocutaneous MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromelanosis -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome, autosomal recessive, formerly +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanosis, neurocutaneous +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome, autosomal recessive, formerly MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249420 MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855305 -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249420 +MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt1 MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 -MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855303 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249599 -MONDO:0009582 Mietens syndrome skos:closeMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mietens-weber syndrome -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265249 +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855303 MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249600 +MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265249 +MONDO:0009582 Mietens syndrome skos:closeMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mietens-weber syndrome MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, congenital heart disorder, blepharophimosis, blepharoptosis, and hypoplastic teeth semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796094 MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249620 +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796094 +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796080 MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249630 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-mercaptolactate cysteine disulfiduria MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249650 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796055 -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disulfiduria, mixed +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mercaptolactate-cysteine disulfiduria MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:closeMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mexican cardiomelic dysplasia +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249700 +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis, homozygous MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis, homozygous -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic limb shortening and bowing -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic limb shortening and bowing MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic limb shortening and bowing +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic limb shortening and bowing MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249900 -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin b deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukoencephalopathy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, adult -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsa deficiency +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin b deficiency MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, juvenile -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoarylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsa deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, adult MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroside sulfatase deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, late infantile -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoarylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukoencephalopathy MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, congenital lethal MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250230 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, congenital lethal MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855217 +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250230 +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, mckusick type MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069596 +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432225 +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-short stature-retinitis pigmentosa syndrome +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250410 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without skeletal anomalies MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa with or without skeletal anomalies MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with retinitis pigmentosa -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-short stature-retinitis pigmentosa syndrome -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250410 -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855175 -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysostosis, mental retardation, and conductive deafness -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia variant, skeletal manifestations only +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855175 MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency +MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia variant, skeletal manifestations only MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250460 -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methacrylic acid toxicity -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-hydroxyisobutyryl coa deacylase deficiency MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methacrylic acid toxicity MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250620 -MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250700 +MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadph-dependent methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpnh-methemoglobin reductase deficiency -MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobin reductase deficiency -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated type 17,20-lyase deficiency, pure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia and ambiguous genitalia +MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methemoglobin reductase deficiency MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia and ambiguous genitalia MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5, formerly +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated type 17,20-lyase deficiency, pure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 -MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-dependent methemoglobin reductase deficiency MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-cytochrome b5 reductase deficiency +MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-dependent methemoglobin reductase deficiency MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia, congenital, autosomal recessive MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250800 -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methionine adenosyltransferase i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine adenosyltransferase i/iii deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent +MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-strang disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oasthouse urine disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine synthase deficiency MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250950 -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342728 -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342727 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-mg-coa-hydratase deficiency +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342727 +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342728 +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250950 MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855126 -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250951 MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574085 +MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250951 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin b12-unresponsive methylmalonic acidemia MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa racemase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonyl-coa epimerase deficiency +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria iii, formerly -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa racemase deficiency MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251190 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855089 -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc syndrome -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation syndrome -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation with microcephaly and mental retardation MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251200 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cardiomyopathy -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 +MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation with microcephaly and mental retardation +MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation syndrome +MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc syndrome MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cardiomyopathy MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855079 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251240 -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with chemotactic defect and transient hypogammaglobulinemia MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with chemotactic defect and transient hypogammaglobulinemia MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with chemotactic defect and transient hypogammaglobulinemia +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with chemotactic defect and transient hypogammaglobulinemia MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with cervical spine fusion anomalies MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with cervical spine fusion anomalies -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251250 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with mental retardation and digital anomalies -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelly syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251255 +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with mental retardation and digital anomalies +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jawad syndrome -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbs -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelly syndrome +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, microcephaly, and chromosomal instability -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v1 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsyndromal microcephaly, autosomal recessive, with normal intelligence -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v1 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, microcephaly, and chromosomal instability MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v2 -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies +MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbs +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251270 -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:closeMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, seizures, spasticity, and brain calcifications -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3489725 -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome +MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3489725 +MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251450 MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois dysplasia, kim variant -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois syndrome +MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251505 -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, autosomal recessive +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcop MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcop +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, autosomal recessive MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251750 -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068494 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251850 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341306 -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy +MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068494 MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital familial protracted diarrhea with enterocyte brush-border abnormalities -MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 2, with microvillus atrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvillus atrophy, congenital +MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 2, with microvillus atrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251880 -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027710 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 -MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial cytopathy +MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027710 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162670 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 +MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial cytopathy MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252100 MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group a +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group a MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group b MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group b +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group b +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252250 -MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 7 myelodysplasia and leukemia syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252270 MONDO:0009647 Morquio syndrome C skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252300 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label motor neuropathy, peripheral, with dysautonomia @@ -11597,1158 +11461,1151 @@ MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252320 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854961 MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spontaneous occlusion of the circle of willis -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch NCIT:C84895 Moyamoya Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch NCIT:C84895 Moyamoya Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, variant form -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854896 +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854896 +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, iranian variant form -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialolipidosis +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238286 MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252650 -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfamidase deficiency +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086647 +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfamidase deficiency MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naglu deficiency MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086649 +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naglu deficiency +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sanfilippo syndrome c +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086649 +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sanfilippo syndrome c +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglucosamine-6-sulfatase deficiency MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglucosamine-6-sulfatase deficiency -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086650 +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086652 -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056892 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056892 +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylgalactosamine-4-sulfatase deficiency MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylgalactosamine-4-sulfatase deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253220 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085132 -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency -MONDO:0009664 mulibrey nanism skos:closeMatch OMIM:253250 mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pericardial constriction and growth failure +MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253250 +MONDO:0009664 mulibrey nanism skos:closeMatch OMIM:253250 mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pericardial constriction and growth failure MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931895 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253260 -MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, juvenile-onset -MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071434 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 +MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset +MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, juvenile-onset +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, neonatal form MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268581 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, neonatal form +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlcs deficiency +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, early onset +MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomgnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomgnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253290 MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854678 +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma, infantile acute form MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, infantile -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253310 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253320 -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chudley syndrome -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854663 -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152109 +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chudley syndrome +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, juvenile MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, mild childhood and adolescent form +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152109 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NCIT:C85076 Spinal Muscular Atrophy of Childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy of childhood -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, juvenile -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NCIT:C156310 Spinal Muscular Atrophy Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy type 2 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, pelvofemoral -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis, eosinophilic +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253601 -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410173 -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalin deficiency, secondary MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoglycan, gamma, deficiency of -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmda +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalin deficiency, secondary +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410173 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, fukuyama type MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410174 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931578 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with infantile cataract and hypogonadism MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850864 MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with infantile cataract and hypogonadism +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with infantile cataract and hypogonadism +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich congenital muscular dystrophy -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ullrich congenital muscular dystrophy -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270968 -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254110 +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254110 +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270968 MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 -MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy +MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254190 -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028417 +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026896 -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, familial infantile, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, formerly -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, formerly +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, familial infantile, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ib, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic myopathy, formerly -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ib, formerly -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254400 MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic mycosis fungoides -MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254400 +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 +MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C36212 Bone Marrow Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone marrow fibrosis -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 MONDO:0009692 primary myelofibrosis skos:closeMatch NCIT:C3248 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 -MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic -MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis MONDO:0009693 plasma cell myeloma skos:closeMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis +MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398595 MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254600 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071082 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254770 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym petit mal, impulsive -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254770 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym janz syndrome -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym petit mal, impulsive MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254780 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg +MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, late-onset +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with lactic acidosis, hereditary +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with deficiency of succinate dehydrogenase and aconitase MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with lactic acidosis, hereditary -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with lactic acidosis, hereditary -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255160 +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal recessive +MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255160 MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal recessive MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255200 MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal recessive -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028655 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label batten-turner congenital myopathy -MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 +MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label batten-turner congenital myopathy MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546264 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore disorder with external ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with external ophthalmoplegia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850674 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with external ophthalmoplegia +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, congenital, of lowenthal MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myosclerotic MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosclerosis, autosomal recessive -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, congenital, of lowenthal -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 +MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, generalized MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym becker disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255700 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia with skeletal abnormalities and mental retardation -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia with skeletal abnormalities and mental retardation -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255710 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia with skeletal abnormalities and mental retardation +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia with skeletal abnormalities and mental retardation MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel-aberfeld syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burton syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850635 -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burton syndrome +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, intracardiac MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255960 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 +MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850635 +MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial myxoma, familial -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, intracardiac -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850627 -MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keipert syndrome -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 +MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850626 +MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 +MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850625 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850625 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062950 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023264 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch OMIM:256000 leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym necrotizing encephalopathy, infantile subacute, of leigh MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256020 MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403548 +MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakajo-nishimura syndrome +MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jmp syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256050 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jmp syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850555 -MONDO:0009727 atelosteogenesis type II skos:closeMatch OMIM:256050 atelosteogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850554 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256050 MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de la chapelle dysplasia -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0009727 atelosteogenesis type II skos:closeMatch OMIM:256050 atelosteogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855681 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:604639 NXPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 +MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:604639 NXPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, deafness, and hyperparathyroidism +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy, deafness, and hyperparathyroidism MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256120 -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrosis with deafness and urinary tract and digital malformations MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256200 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrosis with deafness and urinary tract and digital malformations -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850552 +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403399 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, congenital MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256370 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglycemia, hyperinsulinemic, of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial, with pancreatic nesidioblastosis MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 -MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym comel-netherton syndrome -MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neth +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym netherton disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 +MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym comel-netherton syndrome +MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neth MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-ige +MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256520 MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268233 -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cathepsin a deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency +MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal protective protein deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis -MONDO:0009738 sialidosis type 2 skos:closeMatch NCIT:C125596 Neuraminidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus--cherry red spot syndrome -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency +MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherry red spot--myoclonus syndrome -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neug deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu1 deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherry red spot--myoclonus syndrome +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus--cherry red spot syndrome +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 +MONDO:0009738 sialidosis type 2 skos:closeMatch NCIT:C125596 Neuraminidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu1 deficiency +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796088 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfdr syndrome -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256700 +MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elejalde disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile, finnish variant MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish vlincl MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile, finnish variant MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256800 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020074 +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory, with anhidrosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory, with anhidrosis MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym navajo familial neurogenic arthropathy +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009747 Navajo neurohepatopathy skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256810 -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 +MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gan -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 -MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with excessive myelin folding, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn with excessive myelin outfolding, autosomal recessive +MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with excessive myelin folding, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257100 -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelinase deficiency -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257200 -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelin lipidosis MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257200 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268242 +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelin lipidosis +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelinase deficiency MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NCIT:C126561 Niemann-Pick Disease, Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurovisceral storage disorder with vertical supranuclear ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, chronic neuronopathic form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder without sphingomyelinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurovisceral storage disorder with vertical supranuclear ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, chronic neuronopathic form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257220 MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257270 MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva syndrome +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257270 +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257300 +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva syndrome MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257320 -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement +MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 +MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257320 MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuchal bleb, familial -MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic hygroma, fetal MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nuchal bleb, familial +MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic hygroma, fetal MONDO:0009761 cystic hygroma skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocystic lymphatic malformation MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch OMIM:257500 obesity-hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pickwickian syndrome MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular motor apraxia MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ocular motor apraxia MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saccade initiation failure, congenital +MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257790 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931646 +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocerebral syndrome with hypopigmentation -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257800 MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculocerebral syndrome with hypopigmentation MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kramer syndrome +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257800 MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodentoosseous dysplasia, autosomal recessive -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odod, autosomal recessive -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd, autosomal recessive MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opc dwarfism -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral syndrome +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd, autosomal recessive +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odod, autosomal recessive MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopalatocerebral syndrome +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral syndrome +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opc dwarfism MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral dwarfism +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257910 -MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with type 51d anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatoskeletal syndrome MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michels syndrome, formerly MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257920 +MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with type 51d anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850332 MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257960 +MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257970 -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch OMIM:257970 oculorenocerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257980 -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoonychodermal dysplasia -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoonychodermal dysplasia +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex -MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects -MONDO:0009774 cloacal exstrophy skos:closeMatch NCIT:C99142 OEIS Complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex -MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345217 MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 -MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects +MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch NCIT:C99142 OEIS Complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258100 MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258150 MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligosynaptic infertility MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligochiasmatic infertility -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258150 MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850320 MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 MONDO:0009777 Oliver syndrome skos:closeMatch OMIM:258200 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial polydactyly and mental retardation +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dysplasia, congenital, with dislocation of radius MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia, generalized form MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850318 MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850318 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate-omphalocele syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalocele-cleft palate syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-cleft palate syndrome, lethal MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850317 -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-cleft palate syndrome, lethal -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258450 -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive progressive external ophthalmoplegia +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpeo +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive progressive external ophthalmoplegia +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258450 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 +MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 MONDO:0009786 optic atrophy 6 skos:closeMatch OMIM:258500 optic atrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, congenital or early infantile, autosomal recessive MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258500 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258501 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile, with chorea and spastic paraplegia +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile, with chorea and spastic paraplegia -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258501 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3, autosomal recessive MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iraqi-jewish 'optic atrophy plus' -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 -MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic neuropathy, anterior ischemic, susceptibility to MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naion, susceptibility to -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oral and digital anomalies with ichthyosis -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258840 +MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic neuropathy, anterior ischemic, susceptibility to MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850268 -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258840 +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oral and digital anomalies with ichthyosis +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258860 +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258860 MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796102 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796102 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia with gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine-delta-aminotransferase deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine keto acid aminotransferase deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gyrate atrophy of choroid and retina +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine monophosphate synthase deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia with gyrate atrophy of choroid and retina +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oprt and odc deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ump synthase deficiency MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258900 -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 +MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia +MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine monophosphate synthase deficiency MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ump synthase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps deficiency -MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oprt and odc deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia MONDO:0009798 Primrose syndrome skos:closeMatch OMIM:259050 primrose syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossified ear cartilages with mental deficiency, muscle wasting, and bony changes MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796121 MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259050 -MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, adolescent MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, adolescent +MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850186 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259250 -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, microcephaly, and cataracts -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta congenita, microcephaly, and cataracts MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta congenita, microcephaly, and cataracts +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, progressively deforming, with normal sclerae -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 +MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850168 +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteosarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteosarcoma MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteosarcoma -MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 +MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 +MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259600 -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-aqeel sewairi syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary multicentric -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mona -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-aqeel sewairi syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259600 MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis syndrome, recessive MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteolysis syndrome, recessive +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410422 MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259680 -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, chronic multifocal -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259690 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopenia and sparse hair +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259690 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopenia and sparse hair -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopenia and sparse hair MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal recessive +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal recessive MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive osteopetrosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, mild autosomal recessive form +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259710 -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259720 MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259720 MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432252 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis pseudoglioma syndrome MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, ocular form MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ops -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis pseudoglioma syndrome -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259775 MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850106 -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850105 MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 +MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850105 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal alanine:glyoxylate aminotransferase deficiency MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym serine:pyruvate aminotransferase deficiency -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alanine-glyoxylate aminotransferase deficiency +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal alanine:glyoxylate aminotransferase deficiency +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic agt deficiency +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alanine-glyoxylate aminotransferase deficiency MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268164 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyceric aciduria +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxylate reductase/hydroxypyruvate reductase deficiency -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268525 +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoprolinuria due to type 5-oxoprolinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260005 +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268525 MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoprolinuria due to type 5-oxoprolinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 MONDO:0009826 PA polymorphism of alpha-2-globulin skos:closeMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-2-globulin polymorphism pa -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850100 -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260300 MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallido-pyramidal syndrome -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850100 +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260300 MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic cancer -MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement -MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850096 MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym shwachman-diamond syndrome -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067940 MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subacute sclerosing leukoencephalitis +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym shwachman-diamond syndrome +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch OMIM:260470 subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panencephalitis, subacute sclerosing MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038522 -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subacute sclerosing leukoencephalitis MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 +MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papilloma of choroid plexus MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205770 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma +MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 -MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus carcinoma -MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma -MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papilloma of choroid plexus -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850079 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260530 MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parana hard skin syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850079 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson-dementia syndrome +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome, atypical MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson-dementia syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson-dementia syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850055 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cerebellooptic atrophy +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cousin syndrome -MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature -MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome +MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature +MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850040 -MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulose reductase deficiency -MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulosuria +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064170 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064170 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 +MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulosuria +MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulose reductase deficiency MONDO:0009847 pericardial effusion, chronic skos:closeMatch OMIM:260900 pericardial effusion, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pericarditis +MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label perifolliculitis capitis abscedens et suffodiens, familial MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260910 MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056961 MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perifolliculitis capitis abscedens et suffodiens, familial -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label perifolliculitis capitis abscedens et suffodiens, familial MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch OMIM:260920 hyper-igd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperimmunoglobulinemia d and periodic fever syndrome MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070440 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1394891 +MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070440 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261000 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pernicious anemia, congenital, due to defect of intrinsic factor MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterocyte cobalamin malabsorption -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal bifunctional enzyme deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbp deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifunctional enzyme deficiency -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal bifunctional enzyme deficiency -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796012 MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261540 MONDO:0009856 Peters plus syndrome skos:closeMatch OMIM:261540 peters-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peters anomaly with short-limb dwarfism MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261550 -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent müllerian duct syndrome +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male internal -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia uteri inguinale MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent oviduct syndrome MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia uteri inguinale MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849929 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849929 +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppt syndrome -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849928 +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 +MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849928 +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031485 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phenylketonuria, maternal -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym quinoid dihydropteridine reductase deficiency +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym quinoid dihydropteridine reductase deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym qdpr deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, c -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhpr deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhpr deficiency +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, a MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, a MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878676 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck2 deficiency MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck2 deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgamm deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgamm deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261680 MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck deficiency, cytosolic MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck1 deficiency, cytosolic -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261740 -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal congenital hypertrophic cardiomyopathy due to glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck deficiency, cytosolic +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal congenital hypertrophic cardiomyopathy due to glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261740 +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543514 +MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase kinase deficiency of liver and muscle, autosomal recessive MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver and muscle phosphorylase kinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261750 -MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase kinase deficiency of liver and muscle, autosomal recessive MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis of liver and muscle, autosomal recessive +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossoptosis, micrognathia, and cleft palate MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossoptosis, micrognathia, and cleft palate MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch NCIT:C85010 Pierre Robin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261800 MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pili torti, early-onset MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti, early-onset MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261900 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849811 -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261990 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and developmental delay -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266006 +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261990 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label björnstad syndrome +MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266006 +MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 MONDO:0009872 Bjornstad syndrome skos:closeMatch OMIM:262000 bjornstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and nerve deafness MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pilodental dysplasia with refractive errors -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilodental dysplasia with refractive errors -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia with hyperopia -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilodental dysplasia with refractive errors +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mendenhall syndrome +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 -MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total colorblindness with myopia MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achm1, formerly +MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia with myopia +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated gh deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ighd MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 -MONDO:0009877 Laron syndrome skos:closeMatch NCIT:C129867 Growth Hormone Insensitivity Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity syndrome -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panhypopituitarism +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome +MONDO:0009877 Laron syndrome skos:closeMatch NCIT:C129867 Growth Hormone Insensitivity Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hanhart dwarfism MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ateliotic dwarfism with hypogonadism -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panhypopituitarism +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch NCIT:C110940 Panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panhypopituitarism MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849779 MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biodefective growth hormone -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kowarski syndrome +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biodefective growth hormone +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262700 MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, pituitary and cerebellar defects, and small sella turcica MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with or without cerebellar defects MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262850 MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital alpha2-antiplasmin deficiency MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antiplasmin deficiency MONDO:0009884 platelet prostacyclin receptor defect skos:closeMatch OMIM:262875 platelet prostacyclin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vienna-hietzing defect +MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding abnormality due to deficiency of platelet binding of factor type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin conversion defect, familial MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin consumption inhibitor, familial -MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding abnormality due to deficiency of platelet binding of factor type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796149 MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262890 -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, desquamative semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonia, desquamative interstitial, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonitis, desquamative interstitial, familial MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ild, desquamative -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial pneumonitis, desquamative, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonitis, desquamative interstitial, familial +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonia, desquamative interstitial, familial MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, desquamative semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial pneumonitis, desquamative, familial +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263210 MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036057 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263300 -MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 -MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, vhl-dependent MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chuvash erythrocytosis MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, vhl-dependent MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263450 MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263520 -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with dental and vertebral anomalies -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with dental and vertebral anomalies MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263540 MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849732 -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with dental and vertebral anomalies +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with dental and vertebral anomalies MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body neuropathy, adult form -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body disorder, adult form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body neuropathy, adult form +MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body disorder, adult form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 +MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 MONDO:0009899 polyhydramnios, chronic idiopathic skos:closeMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactogen receptor defect of chorion -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849719 -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263630 MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly with cardiac malformation MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with cardiac malformation -MONDO:0009901 Bartsocas-Papas syndrome skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263650 -MONDO:0009901 Bartsocas-Papas syndrome skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849718 -MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartsocas-papas syndrome -MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartsocas-papas syndrome -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, congenital erythropoietic -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, congenital erythropoietic +MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263630 +MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849719 +MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263650 +MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849718 +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen type 3 synthase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gunther disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen type 3 synthase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, congenital erythropoietic MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uros deficiency -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, congenital erythropoietic MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263750 MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265257 MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch OMIM:263750 postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genee-wiedemann syndrome MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 -MONDO:0009904 Gitelman syndrome skos:closeMatch OMIM:263800 gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium and magnesium depletion MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 +MONDO:0009904 Gitelman syndrome skos:closeMatch OMIM:263800 gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium and magnesium depletion +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi habitus, osteopenia, and camptodactyly MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi habitus, osteopenia, and camptodactyly MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264010 @@ -12757,375 +12614,373 @@ MONDO:0009906 prenatal bowing skos:closeMatch Orphanet:2292 Congenital bowing of MONDO:0009907 Prepapillary vascular loops skos:closeMatch OMIM:264060 prepapillary vascular loops semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preretinal vascular loops MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterin-4 alpha-carbinolamine dehydratase deficiency MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, d -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, d MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, d +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency MONDO:0009909 progesterone resistance skos:closeMatch OMIM:264080 progesterone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocorpus luteum insufficiency -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:closeMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prl deficiency with obesity and enlarged testes MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264270 -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849696 MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudohermaphroditism, female, with skeletal anomalies MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, with skeletal anomalies +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849696 +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264270 MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male, with gynecomastia -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ketosteroid reductase deficiency of testis -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pseudohypoaldosteronism type 1 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal recessive MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264420 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisomal acyl-coa oxidase deficiency -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoneonatal adrenoleukodystrophy MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym straight-chain acyl-coa oxidase deficiency +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoneonatal adrenoleukodystrophy MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849661 -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264475 -MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies -MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoo syndrome MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies +MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoo syndrome +MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies +MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264475 +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly-polydactyly syndrome +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264480 -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly-polydactyly syndrome MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch NCIT:C125418 Pseudotrisomy 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to type 5-alpha-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264600 MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264600 MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, modifier of severity of -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe, modifier of severity of -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, modifier of severity of +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, escobar variant MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, escobar variant -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265000 MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis of eyelids with diastasis recti and hip dysplasia -MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265050 -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnevale syndrome, formerly +MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265050 MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculo-skeletal-abdominal syndrome +MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155912 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265100 -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nonspecific, due to surfactant protein b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265120 -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary atresia with intact ventricular septum -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary atresia with intact ventricular septum +MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nonspecific, due to surfactant protein b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265150 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344975 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary atresia with intact ventricular septum +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary atresia with intact ventricular septum +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, pulmonary, congenital +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiomatosis, pulmonary MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary cystic lymphangiectasis +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, pulmonary, congenital MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, pulmonary, congenital -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265400 +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia, primary MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypoplasia, primary -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary pulmonary hypoplasia -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 +MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 -MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265500 MONDO:0009938 pulmonic stenosis skos:exactMatch NCIT:C50715 Pulmonary Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary stenosis +MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265500 +MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch OMIM:265800 pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pycd MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238402 -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265800 MONDO:0009941 Pygmy skos:closeMatch OMIM:265850 pygmy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygmy, african -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849523 -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 +MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 +MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849523 +MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondrodysplasia calcificans metaphysealis MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265900 MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia calcificans metaphysealis -MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl +MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265900 +MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd +MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to p5n deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidine type 5-prime nucleotidase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyroglutamic aciduria MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-oxoprolinuria -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyroglutamic aciduria MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NCIT:C98943 Hereditary Pyropoikilocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary pyropoikilocytosis MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931141 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034341 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266200 MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340968 +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266200 MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate kinase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pk deficiency -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis, unilateral, with developmental retardation and hypotonia MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis, unilateral, with developmental retardation and hypotonia MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis, unilateral, with developmental retardation and hypotonia +MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 -MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 +MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 +MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth +MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266280 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849453 -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 +MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038275 MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch NCIT:C84789 Infantile Refsum Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder-associated growth failure, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulcerative colitis +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym regional enteritis +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder-associated growth failure, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2952 Ulcerative Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulcerative colitis -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia and retinal aplasia MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-retinal syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loken-senior syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile nephronophthisis with leber amaurosis -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-retinal syndrome +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia and retinal aplasia +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266910 -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rl syndrome -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia +MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266920 +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia +MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor +MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hamartomas, nephroblastomatosis, and fetal gigantism MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796113 MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267000 -MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hamartomas, nephroblastomatosis, and fetal gigantism -MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch OMIM:267010 meckel syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-hepatic-pancreatic dysplasia with dandy-walker cyst MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673885 MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 7 semapv:RegularExpressionReplacement -MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 +MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch OMIM:267010 meckel syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-hepatic-pancreatic dysplasia with dandy-walker cyst +MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267200 +MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta with progressive nerve deafness +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, autosomal recessive, with progressive nerve deafness MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, autosomal recessive, with progressive nerve deafness -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal, genital, and middle ear anomalies MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal, genital, and middle ear anomalies -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis with choanal atresia and athelia +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267450 MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267500 -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic hypoplasia, generalized MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aleukia MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aleukocytosis MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular dysgenesia -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 +MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267500 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic reticulosis, familial -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulosis, familial histiocytic MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulosis, familial histiocytic -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrophagocytic lymphohistiocytosis, familial -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038804 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267760 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, reticular pigmentary, of posterior pole +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, reticular pigmentary, of posterior pole -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179840 -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267800 MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867332 +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267800 +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179840 +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, reticular pigmentary, of posterior pole +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, late-adult onset -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, senile' semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, late-adult onset +MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, senile' semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268025 MONDO:0009985 retinohepatoendocrinologic syndrome skos:closeMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhe syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:closeMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirhosseini-holmes-walton syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:closeMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirhosseini-holmes-walton syndrome -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268060 +MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, pericentral MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, autosomal recessive MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, autosomal recessive -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, pericentral +MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268060 MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327916 MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268130 MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria, familial paroxysmal paralytic MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyolysis, acute recurrent MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268200 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065868 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma chromosomal region +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065868 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, alveolar +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206655 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065867 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic dysplasia, familial +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic syndrome +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic dysplasia, familial MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268250 -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic syndrome -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc phocomelia -MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate -MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with cleft mandible and limb anomalies +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with cleft mandible and limb anomalies MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa-pereira syndrome -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with cleft mandible and limb anomalies +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with cleft mandible and limb anomalies MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268305 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation defect with mesomelia, formerly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome, formerly @@ -13137,1574 +12992,1572 @@ MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:26832 MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodrigues blindness MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268320 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032339 -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome MONDO:0010003 Rowley-Rosenberg syndrome skos:closeMatch OMIM:268500 rowley-rosenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, pulmonary hypertension, and amino aciduria MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406704 MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rudiger syndrome MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rudiger syndrome +MONDO:0010005 saccharopinuria skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268556 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268700 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 MONDO:0010005 saccharopinuria skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0010005 saccharopinuria skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch OMIM:268800 sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richieri-costa/guion-almeida syndrome MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, mental retardation, eye anomalies, and cleft lip/palate -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sao paulo mca/mr syndrome MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa/guion-almeida syndrome -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richieri-costa/guion-almeida syndrome -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sao paulo mca/mr syndrome +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268563 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersarcosinemia +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sard deficiency -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268563 -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel-giedion midface retraction syndrome +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel-giedion midface retraction syndrome MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063540 MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265227 -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063540 -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 +MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, addison disorder, myxedema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal neonatal, with snail-like pelvis MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal neonatal, with snail-like pelvis MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432194 -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniometadiaphyseal dysplasia MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniometadiaphyseal dysplasia +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniometadiaphyseal dysplasia MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269300 -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerocornea with other ocular anomalies -MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269500 +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 +MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269500 +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, sea-blue MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocytosis -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 MONDO:0010019 secretory component deficiency skos:closeMatch OMIM:269650 secretory component deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga deficiency, secretory -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berardinelli syndrome -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, bscl2-related -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, total, and acromegaloid gigantism MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seip syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes, congenital +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, total, and acromegaloid gigantism +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berardinelli syndrome +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, bscl2-related MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269700 MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign familial neonatal, autosomal recessive -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns, autosomal recessive +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269720 +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns, autosomal recessive +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective t-cell defect MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short rib-polydactyly syndrome, beemer-langer type -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short rib-polydactyly syndrome, beemer-langer type MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269860 -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269880 -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 -MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, with rieger anomaly and short stature -MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878684 -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nana storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay +MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, with rieger anomaly and short stature +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nana storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialuria, infantile form +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylneuraminic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialuria, infantile form MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067532 -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269921 +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 +MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269921 MONDO:0010028 sialuria skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0010029 situs inversus skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs ambiguus -MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sicca syndrome -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary sjögren syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 +MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 +MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sicca syndrome MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty aldehyde dehydrogenase deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty alcohol:nad+ oxidoreductase deficiency MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faldh deficiency -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:closeMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, sjogren-larsson-like, without cns or eye involvement -MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 +MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal acrodysgenital syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, sex reversal, renal hypoplasia, and unilobar lung MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270400 -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270420 MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium diarrhea, congenital MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270420 +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:closeMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium pump sites, number of -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to, due to increased binding protein +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor i, resistance to +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf-i resistance MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin, end-organ insensitivity to MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin-c, resistance to -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf-i resistance -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor i, resistance to +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to, due to increased binding protein MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270450 MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849157 -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270460 MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796162 +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270460 MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch OMIM:270460 sonoda syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacs +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia of charlevoix-saguenay +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia of charlevoix-saguenay -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch NCIT:C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270700 -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270750 MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796019 MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 23 MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, vitiligo, premature graying, characteristic facies -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270750 MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849115 MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270800 MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849113 MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270850 -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paresis, glaucoma, and mental retardation MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paresis, glaucoma, and mental retardation -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849112 -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paresis, glaucoma, and mental retardation MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic quadriplegia, retinitis pigmentosa, and mental retardation MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic quadriplegia, retinitis pigmentosa, and mental retardation -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia due to perturbations of meiosis +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849112 +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia with maturation arrest MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenesis arrest MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pregnancy loss, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia with maturation arrest MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270960 -MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270970 +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia due to perturbations of meiosis MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch OMIM:270970 spherocytosis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270970 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 4 semapv:RegularExpressionReplacement MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch OMIM:271150 spinal muscular atrophy, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, proximal, adult, autosomal recessive -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 4 semapv:RegularExpressionReplacement -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile-onset -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile, with sensory neuropathy +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with blindness and deafness -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849094 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271250 +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with blindness and deafness +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with dysmorphism MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysmorphism MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271270 MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849088 -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration and corneal dystrophy -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration and corneal dystrophy MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy with spinocerebellar degeneration -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration and corneal dystrophy +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271320 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849085 +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar degeneration with slow eye movements MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asplenia, isolated congenital -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, familial MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenic hypoplasia +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, familial MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyposplenia, isolated congenital +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271400 -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylar and nasal alterations with striated metaphyses MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylar and nasal alterations with striated metaphyses +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sponastrime dysplasia MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sponastrime dysplasia -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis with anal atresia and urogenital anomalies -MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis with anal atresia and urogenital anomalies MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmn syndrome -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271530 +MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis with anal atresia and urogenital anomalies MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia with pure brachyolmia +MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271530 MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedt with mental retardation MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849053 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with mental retardation +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedt with mental retardation MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with mental retardation -MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271630 MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paps-chondroitin sulfate sulfotransferase deficiency +MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271630 MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271640 -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271650 MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432213 +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271650 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796173 +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch OMIM:271700 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloperipheral dysplasia with short ulna MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch OMIM:271700 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloperipheral dysplasia with short ulna +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796173 +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spongy degeneration of central nervous system -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspa deficiency -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spongy degeneration of central nervous system MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asp deficiency -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067608 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspa deficiency +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatonigral degeneration, infantile MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label striatonigral degeneration, infantile MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subaortic stenosis--short stature syndrome +MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271960 MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795947 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 +MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudanophilic cerebral sclerosis MONDO:0010087 Sugarman brachydactyly skos:closeMatch OMIM:272150 sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with major proximal phalangeal shortening MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272150 -MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268263 MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 +MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268263 MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 +MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272350 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sohar-crisponi syndrome MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sohar-crisponi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 -MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filippi syndrome +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 +MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272460 -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with unilateral unsegmented bar +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synspondylism, congenital +MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with unilateral unsegmented bar +MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 +MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272460 MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tapetoretinal degeneration with ataxia MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetoretinal degeneration with ataxia -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848932 +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2 activator deficiency -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ab variant gm2-gangliosidosis -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NCIT:C133084 GM2-Gangliosidosis, AB Variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexa deficiency +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, variant b1 -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, pseudo-ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b variant gm2-gangliosidosis MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, variant b1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency -MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexa deficiency +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b variant gm2-gangliosidosis +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 +MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272950 +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848912 +MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurodontia, absent teeth, and sparse hair -MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, congenital absence of, with taurodontia and sparse hair +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, noneruption of, with maxillary hypoplasia and genu valgum +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848903 -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, noneruption of, with maxillary hypoplasia and genu valgum -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatocytic seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seminoma MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male germ cell tumor -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatocytic seminoma MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, testicular +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch NCIT:C9309 Seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonseminomatous germ cell tumors +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonal cell carcinoma MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonseminomatous germ cell tumors -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch NCIT:C9309 Seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 +MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931218 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931218 MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273400 -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273730 MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273730 +MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848863 MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273740 -MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym le merrer syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 MONDO:0010120 thrombocytopenia 3 skos:closeMatch OMIM:273900 thrombocytopenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 200-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia, congenital MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schulman-upshaw syndrome MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, congenital -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, familial -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic microangiopathy, familial +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, familial MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upshaw factor, deficiency of -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb agenesis, short stature, and immunodeficiency +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia, congenital +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb agenesis, short stature, and immunodeficiency -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848818 +MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb agenesis, short stature, and immunodeficiency MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274190 -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848816 -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 +MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848818 MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness -MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274230 +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848816 MONDO:0010127 thymoma, familial skos:closeMatch OMIM:274230 thymoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymic neoplasia -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrocerebroretinal syndrome -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrocerebroretinal syndrome +MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274230 MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274240 +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrocerebroretinal syndrome +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrocerebroretinal syndrome +MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848812 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274265 -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpyd deficiency -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpd deficiency -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidinemia, familial +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymine-uraciluria, hereditary MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052622 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpyd deficiency +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidinemia, familial +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refetoff syndrome MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NCIT:C17736 Thyroid Hormone Receptor Beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone receptor beta MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274300 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency +MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch NCIT:C121750 Thyroid Peroxidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271829 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 +MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 +MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch NCIT:C131435 Deiodinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deiodinase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 -MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10WHO:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10CM:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement +MONDO:0010138 thyrotoxicosis skos:exactMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis +MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10WHO:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement +MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, autoimmune -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010138 thyrotoxicosis skos:exactMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary cretinism -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin deficiency, isolated +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone deficiency MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin, biologically inactive +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary cretinism MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh deficiency MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrotropin-releasing hormone deficiency +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275120 -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trh deficiency -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrotropin-releasing hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothalamic hypothyroidism -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trh deficiency MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to tsh resistance +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, nonautoimmune -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism due to unresponsiveness to thyrotropin -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275200 MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism due to unresponsiveness to thyrotropin +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275200 +MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thm MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275220 -MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea imbricata, susceptibility to MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinea imbricata, susceptibility to MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0276742 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713583 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040587 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044316 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mounier-kühn syndrome +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713583 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275300 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn2 deficiency +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044316 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mounier-kühn syndrome +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tc type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn2 deficiency MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma, head and neck -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma, head and neck +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma, head and neck +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma, head and neck +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long, with mental retardation MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848745 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275400 +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848745 MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichoodontoonychial dysplasia with bone deficiency +MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichoodontoonychial dysplasia with bone deficiency MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275450 -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848743 -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275595 +MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triglyceride storage disorder with impaired long-chain fatty acid oxidation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chanarin-dorfman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dorfman-chanarin syndrome -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275630 -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chanarin-dorfman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393559 MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275900 MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393559 MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, childhood-onset, with distal muscle wasting -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mismatch repair deficiency MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mismatch repair deficiency MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C3938 Turcot Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turcot syndrome +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C136712 Mismatch Repair Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with corneal dystrophy -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine aminotransferase deficiency +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine transaminase deficiency MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tat deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069463 +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine aminotransferase deficiency +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with corneal dystrophy MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069463 MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276600 -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine transaminase deficiency -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 +MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268490 -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 -MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268623 -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 -MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvic acid oxidase deficiency +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268490 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvate dioxygenase deficiency -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, absence of, with severe limb deficiency -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild syndrome +MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvic acid oxidase deficiency +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268623 MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, absence of, with severe limb deficiency -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, absence of, with severe limb deficiency MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931370 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848650 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with mental retardation MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with mental retardation -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with mental retardation -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848650 -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931370 -MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocanase deficiency -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 +MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268514 +MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 MONDO:0010168 Usher syndrome type 1 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa and congenital deafness -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 +MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 +MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vacterl association with hydrocephalus MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with macrocephaly and ventriculomegaly +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with hydrocephalus +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vacterl association with hydrocephalus +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von mayer-rokitansky-kuster anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urogenital adysplasia -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bipartitus solidus rudimentarius cum vagina solida +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urogenital adysplasia MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrk anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome type 1 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis -MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine transaminase deficiency +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypervalinemia -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine transaminase deficiency MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745997 -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi-papp syndrome MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277175 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irvh +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right ventricular hypoplasia, isolated +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irvh MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label right ventricular hypoplasia, isolated +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with external ophthalmoplegia -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, oculogastrointestinal -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral myopathy, familial, with external ophthalmoplegia MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277320 MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral myopathy, familial, with external ophthalmoplegia +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral myopathy, familial, with external ophthalmoplegia +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, oculogastrointestinal MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277350 +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblf type MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin f disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria type cblf -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria due to vitamin b12-release defect MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblf type +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria due to vitamin b12-release defect +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria type cblf +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 lysosomal release defect -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cblc MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cblc +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, cblc type, digenic -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblc type MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic acidemia, cblh type, formerly -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblc type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cbld type, variant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic acidemia, cblh type, formerly MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cblh type, formerly -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cbld type, variant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cbld type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets-alopecia syndrome -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets with end-organ unresponsiveness to type 1,25-dihydroxycholecalciferol semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets-alopecia syndrome MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets, hereditary vitamin d-resistant -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemic vitamin d-resistant rickets MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets with end-organ unresponsiveness to type 1,25-dihydroxycholecalciferol semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemic vitamin d-resistant rickets +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent coagulation defect MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamic acid, deficient gamma-carboxylation of -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent coagulation defect -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors ii, vii, ix, and x, combined deficiency of +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, friedreich-like, with selective vitamin e deficiency -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, friedreich-like, with selective vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047631 MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with progressive cerebral atrophy MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym volendam neurodegenerative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264041 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277580 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277580 +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch NCIT:C125599 Weaver Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver-smith syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277590 -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 -MONDO:0010193 Weaver syndrome skos:closeMatch NCIT:C125599 Weaver Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 +MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277600 -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277700 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 +MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049429 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043119 -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277720 MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-induced encephalopathy -MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277740 +MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect +MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 +MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277740 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019202 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 -MONDO:0010200 Wilson disease skos:closeMatch OMIM:606882 ATP7B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019202 MONDO:0010200 Wilson disease skos:closeMatch NCIT:C84756 Hepatolenticular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration -MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label winchester syndrome -MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome +MONDO:0010200 Wilson disease skos:closeMatch OMIM:606882 ATP7B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 +MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 +MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolff mental retardation syndrome MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolff mental retardation syndrome -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipa deficiency -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipa deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 +MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 MONDO:0010206 hypotrichosis 8 skos:closeMatch OMIM:278150 hypotrichosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 1, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, hypotrichosis, everted lower lip, and outstanding ears MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, hypotrichosis, everted lower lip, and outstanding ears -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 +MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, hypotrichosis, everted lower lip, and outstanding ears MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 +MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 +MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 +MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group a MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278700 -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group a -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group c -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278720 MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp4 xeroderma pigmentosum viii, formerly -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group d +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group e +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group e MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpe +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group e MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278740 -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278750 +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f +MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group g +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278850 -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 +MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278850 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063689 MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, obstructive, and chronic sinopulmonary infections +MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barry-perkins-young syndrome +MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:279000 -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, congenital heart disorder, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848392 MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, congenital heart disorder, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome, x-linked +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz gbbb syndrome, x-linked MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300001 -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with abnormal genitalia MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with abnormal genitalia -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with abnormal genitalia MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, hypercalciuric, x-linked -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, hypercalciuric, x-linked -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, hypercalciuric, x-linked +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dosage-sensitive sex reversal -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, dax1-related -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod degeneration, x-linked +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, dax1-related +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dosage-sensitive sex reversal +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod degeneration, x-linked MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300029 -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300030 MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4, congenital sensorineural semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300030 +MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300042 -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 +MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital short bowel syndrome, x-linked MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciip, x-linked -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital idiopathic intestinal pseudoobstruction -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipox +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital idiopathic intestinal pseudoobstruction +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular heterotopia, bilateral periventricular MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular heterotopia, bilateral periventricular MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, familial nodular -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spasticity MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spasticity +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 +MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, with craniofacial dysmorphism MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with craniofacial dysmorphism -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 6, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural progressive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 6, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300066 -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural progressive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlis MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia, x-linked -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia, x-linked MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch NCIT:C116933 Double Cortex Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label double cortex syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848199 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia, x-linked +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlis +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848199 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia, x-linked MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300071 MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300073 -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300076 MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848144 +MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300076 MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300085 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848137 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, female-restricted, with mental retardation MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanodermic leukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siemerling-creutzfeldt disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenomyeloneuropathy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronze schilder disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siemerling-creutzfeldt disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanodermic leukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NCIT:C61252 Adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenomyeloneuropathy MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848097 -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with panhypopituitarism +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with isolated growth hormone deficiency +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with panhypopituitarism +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfts -MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 +MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:closeMatch OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus, x-linked, susceptibility to MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer susceptibility, x-linked MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 -MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300148 +MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer susceptibility, x-linked MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 +MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 +MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 +MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300148 MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300155 -MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, congenital, lower limb, x-linked MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, congenital, lower limb, x-linked +MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, congenital, lower limb, x-linked MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch OMIM:300166 microphthalmia, syndromic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, radiculomegaly, and septal heart defects MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846242 -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytomegalic adrenocortical hypoplasia -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with hhg MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with isolated gonadotropin deficiency +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked ahc +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with hhg +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300200 -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342482 +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked ahc MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:closeMatch OMIM:300209 simpson-golabi-behmel syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs2 MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlisg MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, with ambiguous genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlisg -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 -MONDO:0010269 Coats disease skos:closeMatch OMIM:300216 coats disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal telangiectasis -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015901 -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and abnormal genitalia MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015901 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 +MONDO:0010269 Coats disease skos:closeMatch OMIM:300216 coats disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal telangiectasis MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmad x-linked mental retardation syndrome -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy with abnormal genital development +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300219 +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy with abnormal genital development MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotubular myopathy with abnormal genital development -MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, x-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300221 +MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, x-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300232 -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked, with mental deterioration MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with metaphyseal chondrodysplasia -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked, with mental deterioration MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300238 +MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shashi type -MONDO:0010278 Christianson syndrome skos:closeMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman-like syndrome, x-linked MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678194 MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300243 +MONDO:0010278 Christianson syndrome skos:closeMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman-like syndrome, x-linked MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia and pigmentary defects -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous dysplasia, digital, with facial pigmentary defects and multiple frenula +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia and pigmentary defects MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300245 MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptos2 MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, x-linked -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to lamp-2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iib, formerly MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antopol disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolar cardiomyopathy and myopathy, x-linked MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoglycogenosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal glycogen storage disorder without acid maltase deficiency, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iib, formerly +MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846058 -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300260 +MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to lamp-2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal glycogen storage disorder without acid maltase deficiency, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300260 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846058 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846057 MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300261 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300262 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, abidi type +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300262 +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abidi x-linked mental retardation syndrome +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 +MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, siderius type +MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300263 -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, siderius type MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846055 -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846046 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300266 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846044 -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 +MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcms +MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uruguay faciocardiomusculoskeletal syndrome +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcms MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immune deficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846006 -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845987 +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, x-linked -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NCIT:C176818 Neutropenia, Severe Congenital, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 +MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057589 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, complete MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, neurologic variant -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, complete +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, partial MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, hprt-related -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency, partial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency, partial -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268117 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency, partial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268117 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010302 Ito hypomelanosis skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incontinentia pigmenti achromians MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 -MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grdx1 +MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, short stature, and midface hypoplasia -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 +MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grdx1 MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome, x-linked MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome, x-linked +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, short stature, and midface hypoplasia MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine transporter defect MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 +MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845861 +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch NCIT:C167216 Mental Retardation, X-Linked, Syndromic, Cabezas Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, cabezas type MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch NCIT:C167216 Mental Retardation, X-Linked, Syndromic, Cabezas Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, cabezas type MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300367 MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopathia striata-cranial sclerosis syndrome MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432268 -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059117 +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300376 +MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059117 MONDO:0010311 Becker muscular dystrophy skos:closeMatch NCIT:C84587 Becker's Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beckers muscular dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010312 radial ray deficiency, X-linked skos:closeMatch OMIM:300378 radial ray deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrdx -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perisylvian syndrome, congenital bilateral -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300400 +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, x-linked +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 87 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 87 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010318 FG syndrome 4 skos:closeMatch OMIM:300422 fg syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with or without nystagmus +MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, hedera type +MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with epilepsy MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, hedera type MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300424 -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300431 MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch OMIM:300431 atkin-flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atkin syndrome MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hsd10 deficiency, atypical type MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 10 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0585216 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia myelodysplasia syndrome +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia myelodysplasia syndrome MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, acquired semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0585216 -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 +MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:closeMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds3 -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300471 MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845450 +MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300471 MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300472 -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contiguous abcd1/dxs1375e deletion syndrome MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, and cerebral hypomyelination MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contiguous abcd1/dxs1375e deletion syndrome MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with hypoplastic epiglottis -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300484 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300486 +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked recessive +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 +MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic, due to ovarian dysgenesis +MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, x-linked MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic, due to ovarian dysgenesis -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300514 +MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group b -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b +MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300514 MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsmp MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym martin-probst deafness-mental retardation syndrome -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300519 MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness-intellectual disability syndrome, martin-probst type -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with hypotonia -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300519 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and muscular atrophy MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t3 resistance MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and muscular atrophy -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, jarid1c-related -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with hypotonia MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300534 +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, jarid1c-related MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845202 -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 +MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 +MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845167 MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 +MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement -MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300557 +MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300557 +MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 -MONDO:0010362 glycogen storage disease IXd skos:closeMatch OMIM:300559 glycogen storage disease ixd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogenosis, x-linked MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300559 +MONDO:0010362 glycogen storage disease IXd skos:closeMatch OMIM:300559 glycogen storage disease ixd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogenosis, x-linked MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with retinitis pigmentosa -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xp11.3 deletion syndrome -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xp11.3 deletion syndrome +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with retinitis pigmentosa MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300580 MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, idiopathic, x-linked MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, idiopathic, x-linked MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300590 MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls, x-linked +MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300590 +MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300600 -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300605 -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperekplexia and epilepsy +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked hsan with deafness +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, x-linked, type 1, with peripheral sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked hereditary sensory and autonomic neuropathy with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, x-linked, type 1, with peripheral sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010379 Brunner syndrome skos:closeMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antisocial behavior, susceptibility to MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796275 MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300615 MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:closeMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casm syndrome MONDO:0010381 Tn polyagglutination syndrome skos:closeMatch OMIM:300622 tn polyagglutination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosyltransferase deficiency -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839780 -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x tremor/ataxia syndrome -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300623 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 premature ovarian failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x tremor/ataxia syndrome +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with marxq28 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marker type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked mental retardation and macroorchidism +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary ovarian insufficiency, fragile x-associated -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016667 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marker type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with marxq28 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked mental retardation and macroorchidism -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary ovarian insufficiency, fragile x-associated +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 premature ovarian failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300633 +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xiap deficiency MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resdx MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300643 -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular albinism with sensorineural deafness MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, ocular, with late-onset sensorineural deafness MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism, ocular, with late-onset sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and ocular albinism MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300650 MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845069 -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular albinism with sensorineural deafness +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and ocular albinism MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300652 -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970848 +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970848 -MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with macrocephaly +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, prps-related -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 +MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with macrocephaly MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, prps-related MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, neonatal severe, due to mecp2 mutations +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, neonatal severe, due to mecp2 mutations +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, neonatal severe, due to mecp2 mutations +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 MONDO:0010398 syndromic X-linked intellectual disability 14 skos:closeMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs14 -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency +MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300695 +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scapuloperoneal myopathy, x-linked dominant MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, x-linked dominant -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300695 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 6, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with postural muscle atrophy -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 6, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with postural muscle atrophy +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 +MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsw MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300700 MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300704 MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juberg-marsidi syndrome MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309590 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 +MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juberg-marsidi syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shrimpton type MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300709 -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacioskeletal syndrome MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacioskeletal syndrome MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300712 -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacioskeletal syndrome MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300717 -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300717 MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300749 -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and microcephaly with pontine and cerebellar hypoplasia -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micpch syndrome -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677897 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and microcephaly with pontine and cerebellar hypoplasia MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300750 -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677897 MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked dominant +MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protoporphyria, erythropoietic, x-linked MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria, x-linked +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked dominant MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300752 +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria, x-linked MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060360 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060360 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia, x-linked +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300758 -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2ra deficiency MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2ra deficiency MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2ra deficiency MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300770 MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, lisch epithelial MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300778 MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749050 -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial corneal dystrophy, x-linked -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, endothelial, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, endothelial, x-linked -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, endothelial, x-linked +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial corneal dystrophy, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300799 MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300801 MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deep venous thrombosis, protection against +MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300813 +MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042863 +MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039101 MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma, synovial MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sarcoma, synovial -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039101 -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042863 -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300813 -MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 +MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 +MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300816 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -14714,71 +14567,67 @@ MONDO:0010440 autism, susceptibility to, X-linked 4 skos:closeMatch OMIM:300830 MONDO:0010441 CK syndrome skos:closeMatch OMIM:300831 ck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with thin body habitus and cortical malformation MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 deletion syndrome -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sox3-related -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300833 MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, x-linked, with or without neutropenia and/or platelet abnormalities MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, x-linked, with or without neutropenia and/or platelet abnormalities +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, x-linked, with or without neutropenia and/or platelet abnormalities MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia, high, with nonprogressive cone dysfunction -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3159311 -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch NCIT:C50367 Bed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq28 deletion syndrome, type 3.4-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq28 deletion syndrome, type 3.4-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 +MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 92 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300853 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300853 +MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300854 -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ogden syndrome -MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300855 MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:arylamine n-acetyltransferase +MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010457 Ogden syndrome skos:closeMatch NCIT:C129845 Arylamine N-Acetyltransferase 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 +MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs17 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with alacrima and achalasia -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, nascimento type +MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300860 +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, nascimento type MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsn MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:closeMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, hypogammaglobulinemia, and gait disturbance +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked cerebral-cerebellar-coloboma syndrome MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300864 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral-cerebellar-coloboma syndrome, x-linked @@ -14790,35 +14639,32 @@ MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:c MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq27.3-q28 duplication syndrome MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.3-q28 duplication syndrome MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300869 -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epsilon-trimethyllysine hydroxylase deficiency MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300882 -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300884 MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch NCIT:C142803 Developmental and Epileptic Encephalopathy 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300886 -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies +MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300888 MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300894 -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 5 semapv:RegularExpressionReplacement -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome, x-linked -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome, x-linked -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome, x-linked +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300896 -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300905 +MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim +MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300905 +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300908 MONDO:0010481 angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym angioneurotic edema MONDO:0010481 angioedema skos:exactMatch NCIT:C112175 Angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioedema @@ -14827,46 +14673,46 @@ MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch OMIM:300 MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 -MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch OMIM:300934 congenital disorder of glycosylation, iia iy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked acrogigantism +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 microduplication syndrome +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked acrogigantism MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq26.3 duplication syndrome -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly, x-linked +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 +MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 MONDO:0010498 MEND syndrome skos:closeMatch OMIM:300960 mend syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male ebp disorder with neurologic defects MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300963 @@ -14875,14 +14721,13 @@ MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orph MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300971 MONDO:0010504 immunodeficiency 47 skos:closeMatch OMIM:300972 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scholte syndrome -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scholte syndrome -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early balding, patella luxation, acromicria, and hypogonadism +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scholte syndrome +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scholte syndrome MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300979 -MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300984 MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300985 @@ -14890,763 +14735,755 @@ MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300988 MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meester-loeys syndrome -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 36, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch OMIM:301000 wiskott-aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldrich syndrome +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047992 -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845055 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrx -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, x-linked +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301040 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, x-linked +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrx +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845055 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 +MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, with snow-capped teeth -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta type 3, hypoplastic type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmentary disorder, reticulate, with systemic manifestations, x-linked MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmentary disorder, reticulate, with systemic manifestations, x-linked MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked sideroblastic anemia and spinocerebellar ataxia MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, and spinocerebellar ataxia MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, and spinocerebellar ataxia -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked sideroblastic anemia and spinocerebellar ataxia -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a MONDO:0010525 neural tube defects, X-linked skos:closeMatch OMIM:301410 neural tube defects, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, x-linked +MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301500 -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016016 +MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 +MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002986 +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gla deficiency MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary dystopic lipidosis -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002986 -MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anosmia +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 +MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anosmia MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844936 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness syndrome, x-linked +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness syndrome, x-linked +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita, distal, x-linked +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked lethal infantile +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita, distal, x-linked +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, infantile x-linked -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844934 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301835 MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, fatal x-linked, with deafness and loss of vision MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-dementia syndrome, x-linked +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-dementia syndrome, x-linked MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301845 MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406355 -MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubulin, beta +MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301845 MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubulin, beta -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome +MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubulin, beta MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, epilepsy, and endocrine disorders -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931060 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch OMIM:301940 brachydactyly, mononen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs and great toes, short and abducted +MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931060 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844918 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 +MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844918 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial arch syndrome, x-linked MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial arch syndrome, x-linked MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302000 MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795974 +MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302030 MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calvarial hyperostosis -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, x-linked +MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574083 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302060 -MONDO:0010543 Barth syndrome skos:closeMatch NCIT:C84585 Barth Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch NCIT:C84585 Barth Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302200 +MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010544 cataract 40 skos:closeMatch OMIM:302200 cataract 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, x-linked +MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302200 MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-dental syndrome -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesiodens-cataract syndrome MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, x-linked, with hutchinsonian teeth -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 +MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesiodens-cataract syndrome +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy, x-linked +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca, x-linked MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca, x-linked -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy, x-linked MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement, early-onset MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth peroneal muscular atrophy, x-linked +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302801 MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844873 -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302802 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844865 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302802 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844862 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 -MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked dominant chondrodysplasia punctata MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263627 -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008791 +MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303100 MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008525 -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetochoroidal dystrophy, progressive -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303100 +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008525 +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008791 MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroideremia, deafness, and mental retardation MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq21 deletion syndrome -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844836 +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation +MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 +MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, aphasia, shuffling gait, and adducted thumbs -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb with mental retardation -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795953 -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, congenital clasped, with mental retardation -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb with mental retardation +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303400 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-lowry syndrome -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303650 -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 +MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 MONDO:0010563 blue cone monochromacy skos:closeMatch OMIM:303700 blue cone monochromacy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 5, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym green colorblindness MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deutan colorblindness -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deuteranomaly MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, deutan series -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red colorblindness +MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, protan series MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, protan series +MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red colorblindness MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protanomaly -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, protan series +MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 +MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304030 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 MONDO:0010568 Aicardi syndrome skos:closeMatch OMIM:304050 aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with chorioretinal abnormality -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, partial agenesis of, x-linked -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, partial agenesis of, x-linked MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839909 -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, partial agenesis of, x-linked +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch OMIM:304110 craniofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofrontonasal dysostosis -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioorodigital syndrome +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciopalatoosseous syndrome -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds9, formerly +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, occipital horn type, formerly -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ix, formerly +MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds9, formerly MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, x-linked, formerly -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 +MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ix, formerly MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304150 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dandy-walker malformation, basal ganglia disorder, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304350 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, mixed, with perilymphatic gusher -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with stapes fixation -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perilymphatic gusher-deafness syndrome MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nance deafness -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perilymphatic gusher-deafness syndrome +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2, sensorineural congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304500 -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796074 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-dystonia-optic atrophy syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-deafness syndrome -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796074 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304730 +MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoids of cornea MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoids of cornea +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-secretory diarrhea syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodysregulation, polyendocrinopathy, and enteropathy, x-linked +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodysregulation, polyendocrinopathy, and enteropathy, x-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyendocrinopathy, immune dysfunction, and diarrhea, x-linked -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodysregulation, polyendocrinopathy, and enteropathy, x-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304790 MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islets of langerhans, absence of -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-secretory diarrhea syndrome -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodysregulation, polyendocrinopathy, and enteropathy, x-linked +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304790 MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndi MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304950 -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with pancytopenia +MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 +MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eda1 +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, x-linked MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, x-linked -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch NCIT:C141423 Ehlers-Danlos Syndrome, Type V semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type v MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268341 +MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch NCIT:C141423 Ehlers-Danlos Syndrome, Type V semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type v MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305350 -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305390 MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, x-linked MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evrx +MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305390 +MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305400 MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opitz-kaveggia syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keller syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220769 -MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:closeMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220769 +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 +MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305550 MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844560 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 +MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305550 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016395 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 -MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del castillo syndrome -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sertoli cell-only syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinal cell aplasia -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sertoli cell-only syndrome -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sertoli cell-only syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sertoli cell-only syndrome MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305800 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesangiocapillary glomerulonephritis, x-linked MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:closeMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adp-ribose protein hydrolase deficiency MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9a -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 9a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixa semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder viii, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd viii, formerly MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 9a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306400 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016080 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 -MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma thromboplastin component deficiency +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b(m) -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b leyden MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f9 deficiency -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008533 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f9 deficiency +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma thromboplastin component deficiency MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b leyden MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306950 -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laterality, x-linked -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym situs inversus, complex cardiac defects, and splenic defects, x-linked MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym situs inversus, complex cardiac defects, and splenic defects, x-linked MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia with other cardiac malformations +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laterality, x-linked +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 MONDO:0010608 Hhhh syndrome skos:closeMatch OMIM:306960 hhhh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary hemihypotrophy hemiparesis hemiathetosis syndrome MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch OMIM:306990 microhydranencephaly, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306990 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis, x-linked -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus due to congenital stenosis of aqueduct of sylvius +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, x-linked MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis, x-linked +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with cerebellar agenesis +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with cerebellar agenesis MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307010 MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844005 -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with cerebellar agenesis -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with cerebellar agenesis -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk1 deficiency -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk1 deficiency MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcg -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcg MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgh -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia and isolated growth hormone deficiency, x-linked +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia and isolated growth hormone deficiency, x-linked -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism, male, with mental retardation and skeletal anomalies MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, male, with mental retardation and skeletal anomalies -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid glands, agenesis of +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, x-linked +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid glands, agenesis of MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, x-linked MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets, x-linked dominant -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, x-linked MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets, x-linked dominant -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant hypophosphatemic rickets -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked dominant hypophosphatemic rickets +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, x-linked +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307830 -MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects -MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs -MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hemidysplasia with ichthyosiform erythroderma and limb defects -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265267 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, x-linked -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sts deficiency +MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 +MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hemidysplasia with ichthyosiform erythroderma and limb defects +MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs +MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid sulfatase deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym placental steroid sulfatase deficiency MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked, complicated +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, x-linked +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym placental steroid sulfatase deficiency MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked, complicated MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruds +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sts deficiency MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rud syndrome +MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruds MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:closeMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpl115 deficiency -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch NCIT:C61244 CD40 Ligand Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd40 ligand deficiency -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperimmunoglobulin m syndrome -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308300 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308300 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohtahara syndrome, x-linked +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym west syndrome, x-linked +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohtahara syndrome, x-linked -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym west syndrome, x-linked MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris hypoplasia with glaucoma -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmic hypogonadism MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch NCIT:C75480 Kallmann Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmic hypogonadism MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism and anosmia -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:closeMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia-kallmann syndrome -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, x-linked -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, x-linked +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, x-linked +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis, dwarfism, and cerebral atrophy MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis, dwarfism, and cerebral atrophy -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber hereditary optic neuropathy, modifier of +MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy, modifier of +MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber hereditary optic neuropathy, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhon, modifier of -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dl-ats -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome and diffuse leiomyomatosis +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dl-ats MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyomatosis, diffuse, with alport syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308940 -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 centromeric deletion syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, diffuse, with alport syndrome +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 centromeric deletion syndrome +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308940 MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308950 MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute, x-linked MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute, x-linked -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylinositol type 4,5-bisphosphate type 5-phosphatase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309120 -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, x-linked -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgcn -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea +MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309300 MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060908 -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309350 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060908 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysplasty of melnick and needles +MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027294 MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022716 -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309480 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation and psoriasis MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and psoriasis -MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome -MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renpenning syndrome +MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309500 +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spastic diplegia +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spastic diplegia MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309500 -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dystonic movements, ataxia, and seizures -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dystonic movements, ataxia, and seizures MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington x-linked mental retardation syndrome -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309510 MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partington syndrome MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partington syndrome +MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309510 MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lujan-fryns syndrome MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lujan-fryns syndrome MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs12 MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 -MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraxe mental retardation syndrome +MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs12 MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with fragile site fraxe -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraxe mental retardation syndrome +MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, deafness, and seizures MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795965 MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, deafness, and seizures MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, deafness, and seizures -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia and palmoplantar hyperkeratosis -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia and palmoplantar hyperkeratosis MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym juberg-marsidi syndrome +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation-hypotonic facies syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796160 -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309583 MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxssr -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309585 +MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type +MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309583 MONDO:0010665 Wilson-Turner syndrome skos:closeMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilson-turner x-linked mental retardation syndrome +MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309585 +MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 +MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prs MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prieto x-linked mental retardation syndrome -MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dysmorphism and cerebral atrophy -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrsd MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, skeletal dysplasia, and abducens palsy +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, skeletal dysplasia, and abducens palsy -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 -MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, skeletal dysplasia, and abducens palsy +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrsd MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia +MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 +MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 +MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia MONDO:0010671 microphthalmia, syndromic 1 skos:narrowMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym syndromic microphthalmia type 4 semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:closeMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette syndrome, modifier of -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026705 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056889 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:closeMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, progressive, involving shoulder girdle and back +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310200 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, x-linked, formerly +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroperoneal neuromuscular disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010681 myelolymphatic insufficiency skos:closeMatch OMIM:310350 myelolymphatic insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelger-like anomaly with leukopenia and susceptibility to infections MONDO:0010682 myoclonic epilepsy, progressive, X-linked skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310370 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, x-linked +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, x-linked MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, x-linked +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, x-linked MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310440 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839615 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931230 -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with excessive autophagy MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with excessive autophagy +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with excessive autophagy MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936859 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, x-linked MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, x-linked MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, axonal motor-sensory, with deafness and mental retardation MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310490 +MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, with myopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nyctalopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, x-linked -MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, with myopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310500 -MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069760 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 +MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 +MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd MONDO:0010691 Norrie disease skos:closeMatch NCIT:C118634 Norrie Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label norrie syndrome MONDO:0010692 nuclear ribonucleic acid skos:closeMatch OMIM:310650 nuclear ribonucleic acid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nrna +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile idiopathic, formerly MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile periodic alternating, x-linked MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, infantile, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310980 MONDO:0010697 ophthalmoplegia, external, and myopia skos:closeMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia-ophthalmoplegia syndrome MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311050 @@ -15658,839 +15495,831 @@ MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch O MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311200 MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510460 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268542 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052450 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311250 +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ornithine transcarbamylase deficiency, hyperammonemia due to MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency, hyperammonemia due to -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontootopalatodigital osteodysplasia MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311300 +MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontootopalatodigital osteodysplasia MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otopalatodigital spectrum disorder MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof1 MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 -MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic ovarian failure, x-linked MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure, x-linked +MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic ovarian failure, x-linked MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with spastic diplegia MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 +MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister w syndrome MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pallister w syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with mental retardation MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311510 +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311895 MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931064 -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839463 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with congenital heart malformation and clubfoot -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312000 +MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch OMIM:312000 panhypopituitarism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism iv, formerly -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 +MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312000 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312060 -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor properdin deficiency MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym properdin p factor deficiency -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor properdin deficiency +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067610 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch OMIM:312080 pelizaeus-merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch OMIM:312080 pelizaeus-merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 +MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 +MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, x-linked MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, x-linked MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome, multiple, x-linked -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, x-linked -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with abnormal pyruvate metabolism MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdh deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with pyruvate dehydrogenase deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia, thiamine-responsive -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with abnormal pyruvate metabolism +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with pyruvate dehydrogenase deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial aplasia, x-linked MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia, x-linked +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia and anogenital anomalies +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 MONDO:0010719 radiation sensitivity of natural killer activity skos:closeMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-ray nk sensitivity MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312550 MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dysplasia, primary MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dysplasia, primary +MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312550 MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312600 MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, zappella variant +MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 +MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, atypical MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, preserved speech variant -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, dementia, ataxia, and loss of purposeful hand use -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts +MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, zappella variant MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym russell-silver-like syndrome with skin pigmentation MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312780 -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839321 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 +MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839321 +MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 MONDO:0010728 SCARF syndrome skos:closeMatch OMIM:312830 scarf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke x-linked mental retardation syndrome -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke x-linked mental retardation syndrome -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis with mental retardation, x-linked MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke x-linked mental retardation syndrome MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis with mental retardation, x-linked +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke x-linked mental retardation syndrome +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xcid MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931291 +MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraparesis and deafness -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness +MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931291 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sppx2 -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839264 -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312920 MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2 semapv:RegularExpressionReplacement +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312920 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839264 MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner syndrome-associated neurocognitive phenotype MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visuospatial/perceptual abilities -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal neuronopathy, x-linked recessive -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kennedy spinal and bulbar muscular atrophy +MONDO:0010735 Kennedy disease skos:closeMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal neuronopathy, x-linked recessive +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal muscular atrophy, x-linked +MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy -MONDO:0010735 Kennedy disease skos:closeMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068600 MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313200 -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/split-foot anomaly, x-linked -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313350 +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, late MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed tarda, x-linked MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313400 -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313420 MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796172 -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, x-linked +MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313420 MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, x-linked +MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, x-linked MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label taqi polymorphism MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taqi polymorphism MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313500 -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midline defects, x-linked +MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracoabdominal syndrome +MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracoabdominal syndrome MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0559483 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313850 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracoabdominal syndrome -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0559483 MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked +MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, intermittent -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombocytopenia type 1 semapv:RegularExpressionReplacement +MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314050 -MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314250 +MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, x-linked MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goeminne syndrome -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314250 MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314300 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkcr syndrome MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkcr syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goeminne syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label torticollis, keloids, cryptorchidism, and renal dysplasia +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonocephaly with short stature and developmental delay MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly with short stature and developmental delay -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with lobster-claw deformity of feet MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with lobster-claw deformity of feet +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314390 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h, x-linked MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314500 MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 +MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314500 MONDO:0010756 Von Willebrand disease, X-linked form skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314560 MONDO:0010757 widow's peak syndrome skos:closeMatch OMIM:314570 widow's peak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym widows peak, ptosis, and skeletal anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265239 -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314600 +MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400004 MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, y-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospermatogenesis MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400042 +MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospermatogenesis MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incomplete sertoli cell-only syndrome -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch NCIT:C166105 Hypospermatogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospermatogenesis MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome, y-linked +MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch NCIT:C166105 Hypospermatogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospermatogenesis MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch OMIM:400044 46,xy sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex-reversing locus on x, formerly -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018054 MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936694 -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azf regions -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligozoospermia, nonobstructive, y-linked +MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018054 +MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch OMIM:400044 46,xy sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex-reversing locus on x, formerly +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, nonobstructive, y-linked +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligozoospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic arrest, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligospermia, nonobstructive, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, nonobstructive, y-linked +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azf regions MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia factor regions MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:415000 +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, nonobstructive, y-linked MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma MONDO:0010769 hairy ears, Y-linked skos:closeMatch OMIM:425500 hairy ears, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis pinnae auris, y-linked MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:closeMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ube1y MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, focal lipid -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, infantile histiocytoid -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile histiocytoid -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile xanthomatous +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, oncocytic -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial, with visual failure and striatal lucencies +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile xanthomatous +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile histiocytoid +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, infantile histiocytoid +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, focal lipid MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsden syndrome MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy with diabetes +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial, with visual failure and striatal lucencies +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy with diabetes -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500002 +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy with diabetes MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis, mitochondrial +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500002 MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile, mitochondrial +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis, mitochondrial +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 21, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 -MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome-plus +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 21, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs-plus +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome-plus MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome with neuromuscular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mitochondrial non-syndromic sensorineural deafness -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural, mitochondrial MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nonsyndromic sensorineural, mitochondrial +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mitochondrial non-syndromic neurosensory deafness +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial neurosensory deafness -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mitochondrial non-syndromic sensorineural deafness +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, infantile, transient -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory chain deficiency, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500009 +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500011 MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, chloramphenicol-induced MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloramphenicol resistance -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niddm with deafness -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus with deafness MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes and deafness, maternally inherited -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus with deafness -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and deafness, maternally inherited +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niddm with deafness MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-deafness syndrome, maternally transmitted +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838912 MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520100 -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, chronic, with villous atrophy MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea, chronic, with villous atrophy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial cytopathy +MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, chronic, with villous atrophy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocraniosomatic syndrome MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with myopathy MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with ragged-red fibers MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic progressive external ophthalmoplegia with myopathy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocraniosomatic syndrome MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia-plus syndrome +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048804 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:530000 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial cytopathy MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917796 MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:535000 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162671 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 +MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053872 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:540000 -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053872 -MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 +MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 +MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome skos:closeMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:550500 MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838876 MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, lethal, infantile MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, lethal, infantile -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, lethal, infantile MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328349 +MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa +MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062940 MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, ataxia, and retinitis pigmentosa -MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:557000 MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 -MONDO:0010797 Pearson syndrome skos:closeMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 +MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:557000 +MONDO:0010797 Pearson syndrome skos:closeMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubulopathy, diabetes mellitus, and cerebellar ataxia MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubulopathy, diabetes mellitus, and cerebellar ataxia MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:580000 -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym didmoad syndrome, mitochondrial form +MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocamptodactyly -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocamptodactyly -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600000 +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with cervical platyspondyly -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis and congenital heart defects -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart defects, congenital, and other congenital anomalies +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocamptodactyly +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocamptodactyly +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart defects, congenital, and other congenital anomalies -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart defects, congenital, and other congenital anomalies MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis and congenital heart defects +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838779 MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600002 -MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eiken skeletal dysplasia MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone modeling defect of hands and feet -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bladder exstrophy and epispadias complex -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bladder exstrophy and epispadias complex -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exstrophy of bladder +MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eiken skeletal dysplasia MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005689 MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bladder exstrophy and epispadias complex +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bladder exstrophy and epispadias complex +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exstrophy of bladder MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600059 +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600060 -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072077 +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600072 -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insomnia, fatal familial MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch NCIT:C84711 Fatal Familial Insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch NCIT:C84711 Fatal Familial Insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelocytic leukemia-like syndrome, familial, chronic MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelocytic leukemia-like syndrome, familial, chronic MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cml-like syndrome, familial -MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelocytic leukemia-like syndrome, familial, chronic -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudovitamin d3 deficiency rickets due to type 25-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxyvitamin d3 deficiency, selective MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 -MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostatic hyperplasia, benign +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxyvitamin d3 deficiency, selective +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudovitamin d3 deficiency rickets due to type 25-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostatic hyperplasia, benign +MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostatic hyperplasia, benign MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838654 MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600092 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600096 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label puerto rican infant hypotonia syndrome MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puerto rican infant hypotonia syndrome -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement +MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without preserved paraarteriole retinal pigment epithelium +MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without pprpe MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium -MONDO:0010819 Stargardt disease 3 skos:closeMatch OMIM:600110 stargardt disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt-like macular dystrophy, autosomal dominant MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600110 -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010819 Stargardt disease 3 skos:closeMatch OMIM:600110 stargardt disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt-like macular dystrophy, autosomal dominant MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with diurnal fluctuation -MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysphasia, familial developmental -MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysphasia, familial developmental -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838630 -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 +MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysphasia, familial developmental +MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysphasia, familial developmental MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micro syndrome -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes syndrome MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Disorder of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 +MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes syndrome MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect with blepharophimosis and anal and radial defects MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect with blepharophimosis and anal and radial defects MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838606 MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600123 -MONDO:0010826 childhood absence epilepsy skos:closeMatch NCIT:C50436 Petit Mal Seizure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label petit mal seizure MONDO:0010826 childhood absence epilepsy skos:exactMatch NCIT:C128189 Childhood Absence Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy +MONDO:0010826 childhood absence epilepsy skos:closeMatch NCIT:C50436 Petit Mal Seizure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label petit mal seizure MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600132 MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600138 -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrovascular disorder with thin skin, alopecia, and disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrovascular disorder with thin skin, alopecia, and disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838577 MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600142 +MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838577 MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C118455 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal regression syndrome -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral defect with anterior meningocele MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal regression syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sirenomelia MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 +MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C99054 Sacral Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C99054 Sacral Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral defect with anterior meningocele +MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C118455 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600151 MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600155 MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600156 -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli and mental retardation with facial and digital anomalies -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium colli and mental retardation with facial and digital anomalies MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600159 MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium colli and mental retardation with facial and digital anomalies +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli and mental retardation with facial and digital anomalies +MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal dominant -MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, simple, autosomal dominant MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos with high hyperopia and angle-closure glaucoma MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 +MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, simple, autosomal dominant MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, congenital benign, with contractures -MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, congenital nonprogressive MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600175 -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838491 -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts +MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, congenital nonprogressive MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation and seizures -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838491 MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcm1 +MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous malformations, multiple cutaneous and mucosal +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcm1 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous malformations, multiple cutaneous and mucosal MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600195 -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous malformations, multiple cutaneous and mucosal MONDO:0010843 dyslexia, susceptibility to, 2 skos:closeMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600204 MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600209 -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752122 MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752122 MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600223 +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752123 -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600224 MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600231 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600252 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:closeMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bor-duane hydrocephalus contiguous gene syndrome -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600268 MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838329 -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with epibulbar dermoids +MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600268 MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oes -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stale +MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch OMIM:600268 oculoectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with epibulbar dermoids +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838328 MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600269 +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stale MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short tarsus with absence of lower eyelashes MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short tarsus with absence of lower eyelashes -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838328 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600273 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tau inclusions +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with parkinsonism MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disinhibition-dementia-parkinsonism-amyotrophy complex +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobe dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftdp17 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pick complex MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld with tau inclusions -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tau inclusions +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pick complex MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobe dementia +MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disinhibition-dementia-parkinsonism-amyotrophy complex MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch OMIM:600302 fryns macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with spastic paraplegia and distinctive craniofacial appearance MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838281 MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600302 MONDO:0010859 atrioventricular septal defect 3 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600309 -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 MONDO:0010861 type 1 diabetes mellitus 3 skos:closeMatch OMIM:600318 iia 1 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010862 type 1 diabetes mellitus 4 skos:closeMatch OMIM:600319 iia 1 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010863 type 1 diabetes mellitus 5 skos:closeMatch OMIM:600320 iia 1 diabetes mellitus 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010864 type 1 diabetes mellitus 7 skos:closeMatch OMIM:600321 iia 1 diabetes mellitus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aminopterin syndrome sine aminopterin MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminopterin syndrome sine aminopterin +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795939 -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis and infantile neuroaxonal dystrophy +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aminopterin syndrome sine aminopterin MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and infantile neuroaxonal dystrophy +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis and infantile neuroaxonal dystrophy MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838258 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 -MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 +MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600332 MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838244 -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 -MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial muscular dystrophy, tardive MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial muscular dystrophy, tardive MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838244 MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600334 +MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial muscular dystrophy, tardive MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label band heterotopia +MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600348 -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600360 -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600360 MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt with pyramidal features +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroneal muscular atrophy with pyramidal features, autosomal dominant MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with pyramidal features, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroneal muscular atrophy with pyramidal features, autosomal dominant -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt with pyramidal features MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600361 +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838192 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010879 CODAS syndrome skos:closeMatch OMIM:600373 codas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral, ocular, dental, auricular, and skeletal anomalies syndrome +MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838180 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600373 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838180 -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 +MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600383 MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, syndromic -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600383 -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838161 MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600384 +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600399 MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931302 -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectus excavatum, macrocephaly, short stature, and dysplastic nails MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pectus excavatum, macrocephaly, short stature, and dysplastic nails +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectus excavatum, macrocephaly, short stature, and dysplastic nails MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600416 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-mental retardation syndrome +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931817 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch NCIT:C129021 Chromosome 2q37 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, anterior cervical -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, anterior cervical MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600457 -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838122 +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, anterior cervical +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, anterior cervical MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial dissection with lentiginosis MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arterial dissection with lentiginosis -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600460 +MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 +MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838122 MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600460 MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defect, genital anomalies, and ectrodactyly MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, cardiac defect, genital anomalies, and ectrodactyly -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600467 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs4 MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600496 MONDO:0010895 ABCD syndrome skos:closeMatch OMIM:600501 abcd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness -MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigment dispersion syndrome MONDO:0010896 pigment dispersion syndrome skos:closeMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma-related pigment dispersion syndrome -MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigment dispersion syndrome -MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 3 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant lateral temporal lobe epilepsy -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600513 MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, endocardial fibroelastosis, and cataracts MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, endocardial fibroelastosis, and cataracts MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833607 MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600559 -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with atlantoaxial instability MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with atlantoaxial instability +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with atlantoaxial instability MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833603 MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600561 MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch OMIM:600624 cone-rod dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crd1 MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600624 -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600625 MONDO:0010906 orofacial cleft 11 skos:closeMatch OMIM:600625 orofacial cleft 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, congenital healed +MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600625 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 MONDO:0010907 familial hypertryptophanemia skos:closeMatch OMIM:600627 hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertryptophanemia, familial -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600628 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406468 -MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loose anagen hair syndrome +MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 +MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600628 MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loose anagen hair syndrome -MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loose anagen hair syndrome MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600630 -MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010910 enuresis, nocturnal, 1 skos:closeMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bedwetting -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom3 locus +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 -MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom3 locus MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162510 -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833541 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600643 +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833541 +MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, hepatic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency with hypoketotic hypoglycemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, infantile -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, hepatic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600652 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600652 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600666 -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch OMIM:600668 chondrocalcinosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis with early-onset osteoarthritis MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600668 +MONDO:0010917 chondrocalcinosis 1 skos:closeMatch OMIM:600668 chondrocalcinosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis with early-onset osteoarthritis MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 +MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label anotia -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 +MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoid cysts, familial frontonasal +MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cysts, familial frontonasal MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600679 MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833473 -MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cysts, familial frontonasal -MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoid cysts, familial frontonasal -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833454 MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch OMIM:600705 satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833454 MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch OMIM:600705 satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600706 -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 +MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600736 +MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velofacioskeletal syndrome MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velofacioskeletal syndrome MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600776 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833339 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch OMIM:600776 fryns microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-plus syndrome +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833339 MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chorioretinal atrophy, progressive bifocal -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600790 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833321 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chorioretinal atrophy, progressive bifocal MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chorioretinal atrophy, progressive bifocal -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600802 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholelithiasis, low phospholipid-associated -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholelithiasis, low phospholipid-associated +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, protection against MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, bronchial -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma, susceptibility to MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, susceptibility to MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma, susceptibility to MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010943 schizophrenia 4 skos:closeMatch OMIM:600850 schizophrenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q11-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -16498,1091 +16327,1084 @@ MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pig MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600880 -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous obstruction of inferior vena cava +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856761 +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous obstruction of inferior vena cava +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital zonular, with sutural opacities -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600882 -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833219 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833219 +MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600882 MONDO:0010950 type 1 diabetes mellitus 8 skos:closeMatch OMIM:600883 iia 1 diabetes mellitus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600884 -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600884 MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperferritinemia with or without cataract +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833213 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia, hereditary, with congenital cataracts +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia with or without cataract MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia-cataract syndrome MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia with or without cataract +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperferritinemia with or without cataract MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833213 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600886 -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C13071 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C126364 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group e +MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 +MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C126364 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e +MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group e +MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C13071 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600903 -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833136 -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker-like syndrome without psychomotor retardation +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, arachnodactyly, and congenital contractures +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833136 MONDO:0010960 protocadherin 3 skos:closeMatch OMIM:600931 protocadherin 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcdh3 -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity and endocrinopathy due to impaired processing of prohormones MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, nonepidermolytic palmoplantar -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity and endocrinopathy due to impaired processing of prohormones +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, nonepidermolytic palmoplantar MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600965 -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600965 MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600969 MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 3, with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1b -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600974 -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600974 MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary congenital glaucoma MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600975 -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary congenital glaucoma MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600977 -MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpcmr MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpcmr MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infundibulopelvic dysgenesis MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infundibulopelvic dysgenesis -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, sprengel anomaly, and costovertebral dysplasia MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, sprengel anomaly, and costovertebral dysplasia +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, sprengel anomaly, and costovertebral dysplasia MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600991 -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600994 +MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement +MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive -MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 +MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601001 -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601003 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832918 +MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601003 +MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome with syndactyly +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:closeMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dincsoy syndrome -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601027 -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832855 +MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal dystonic choreathetosis with episodic ataxia and spasticity -MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cse choreoathetosis, paroxysmal, with episodic ataxia MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis/spasticity, episodic +MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 -MONDO:0010984 Usher syndrome type 1D skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010984 Usher syndrome type 1D skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601068 -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601071 +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, childhood-onset neurosensory, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, childhood-onset neurosensory, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601072 -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, high myopia, and cone-rod dysfunction -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601075 -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 +MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction +MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, high myopia, and cone-rod dysfunction MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil deformity, conductive deafness, and absent vagina -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MONDO:0010991 laterality defects, autosomal dominant skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601086 -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601088 -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ayme-gripp syndrome MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ayme-gripp syndrome -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ayme-gripp syndrome +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601095 -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270913 +MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601098 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601101 -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg id +MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832736 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601110 +MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg id MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832735 MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601127 -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fallot complex with severe mental and growth retardation MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fallot complex with severe mental and growth retardation +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fallot complex with severe mental and growth retardation +MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2d, mouse, homolog of MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gc-e -MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2d, mouse, homolog of MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome -MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601144 -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 6a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 +MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 6a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601154 MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601160 MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts with motor neuronopathy, short stature, and skeletal abnormalities -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601162 -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defects, limb deficiencies, and ossification defects of skull +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic defects, limb deficiencies, and ossification defects of skull -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601163 +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defects, limb deficiencies, and ossification defects of skull MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym froster syndrome -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931750 -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601165 +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601163 MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931750 +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601165 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia/microphthalmia and pulmonary hypoplasia MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832661 MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gurrieri syndrome MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gurrieri syndrome MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601187 MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 African iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601195 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric hypocalcemia +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1, with bartter syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric hypocalcemia +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, familial -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, familial MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266144 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch OMIM:601200 pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome -MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 -MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011015 cataract 24 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 +MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011016 type 1 diabetes mellitus 11 skos:closeMatch OMIM:601208 iia 1 diabetes mellitus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 +MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601214 -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, palmoplantar keratoderma, and cardiac abnormalities +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, palmoplantar keratoderma, and cardiac abnormalities MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601216 MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch OMIM:601216 dental anomalies and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601217 -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis and oculocutaneous hypopigmentation syndrome MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis and oculocutaneous hypopigmentation syndrome +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect11 syndrome -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601230 +MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 +MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601277 -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:closeMatch OMIM:601283 iia 2 diabetes mellitus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2f MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601287 +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2f MONDO:0011029 myeloid tumor suppressor skos:closeMatch OMIM:601308 myeloid tumor suppressor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloid leukemia-related locus MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:closeMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebcr -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601316 -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement +MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601317 MONDO:0011033 type 1 diabetes mellitus 13 skos:closeMatch OMIM:601318 iia 1 diabetes mellitus 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 +MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan-neurofibromatosis syndrome MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis with noonan phenotype +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832472 -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porencephaly, cerebellar hypoplasia, and internal malformations -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832472 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601338 MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601338 +MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrophia maculosa varioliformis cutis, familial MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophia maculosa varioliformis cutis, familial MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym varioliform macular atrophy of the skin -MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrophia maculosa varioliformis cutis, familial -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832444 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832444 MONDO:0011042 Martinez-Frias syndrome skos:closeMatch OMIM:601346 martinez-frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula -MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832440 +MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601350 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832439 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832438 -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601351 +MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601350 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, epilepsy, and coarse face +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601351 +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832438 MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, epilepsy, and coarse face +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, epilepsy, and coarse face MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795941 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601353 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachycephaly, deafness, cataract, microstomia, and mental retardation -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601355 -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachial amelia, cleft lip, and holoprosencephaly +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, congenital heart disorder, unilateral renal agenesis, and hyposegmented lungs semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601355 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, forebrain defects, and facial clefts +MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachial amelia, cleft lip, and holoprosencephaly MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, cleft lip, and holoprosencephaly -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sparse hair and mental retardation -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nicolaides-baraitser syndrome -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832432 MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601360 MONDO:0011054 autosomal recessive amelia skos:closeMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelia, autosomal recessive -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601362 MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832431 MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601363 MONDO:0011056 Wilms tumor 4 skos:closeMatch OMIM:601363 wilms tumor 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial wilms tumor type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebral infarction -MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrovascular accident MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C3390 Stroke semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stroke +MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebral infarction MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cerebral infarction +MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrovascular accident +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601369 -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601370 +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832424 -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related nuclear -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuclear sclerosis of the lens MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, age-related nuclear -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly and cerebellar dysgenesis -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly and cerebellar dysgenesis +MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuclear sclerosis of the lens +MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related nuclear MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832412 +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly and cerebellar dysgenesis +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly and cerebellar dysgenesis MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 -MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal, with long bone angulation and mixed bone density MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia, lethal, with long bone angulation and mixed bone density -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine syndrome +MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal, with long bone angulation and mixed bone density +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hunter-mcalpine craniosynostosis syndrome -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine craniosynostosis syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601382 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832399 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601382 -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement +MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement +MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601386 MONDO:0011068 type 1 diabetes mellitus 12 skos:closeMatch OMIM:601388 iia 1 diabetes mellitus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrofacioarticular syndrome -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrofacioarticular syndrome +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrofacioarticular syndrome MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832388 MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601410 -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmtn MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm1 +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601410 +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm +MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601414 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect and muscular dystrophy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, desmin-related -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desminopathy, primary -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601427 -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832362 +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desminopathy, primary +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, desmin-related +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect and muscular dystrophy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601427 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832359 +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832362 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832359 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, progressive, with stapes fixation MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, progressive, with stapes fixation -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601449 +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 +MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832352 MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal dysplasia MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal syndrome MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal dysplasia MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406724 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601453 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 -MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodental dysplasia MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia +MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodental dysplasia MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 +MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832322 -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to complete rag1/2 deficiency +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-negative, nk cell-positive MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms iia, formerly MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 +MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms iia, formerly +MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011089 patent ductus venosus skos:closeMatch OMIM:601466 patent ductus venosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym portosystemic venous shunt, congenital MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832274 MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601472 +MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832274 MONDO:0011092 ribbing disease skos:closeMatch OMIM:601477 ribbing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal sclerosis, multiple MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaluronidase deficiency -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601492 +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832241 +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect +MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832241 MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601499 MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prca1 MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601518 MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosley-salih-alorainy syndrome -MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosley-salih-alorainy syndrome -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 +MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosley-salih-alorainy syndrome MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (nald/ird) -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy, autosomal neonatal -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 1b semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy, autosomal neonatal +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601543 MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 +MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601549 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832167 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601552 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601553 -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis, congenital, with juvenile macular dystrophy MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, congenital, with juvenile macular dystrophy -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia with robin phenotype +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis, congenital, with juvenile macular dystrophy +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832112 +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with robin phenotype -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssegmental dysplasia with glaucoma MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia with glaucoma MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601583 MONDO:0011112 Wilms tumor 5 skos:closeMatch OMIM:601583 wilms tumor 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, susceptibility to -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601596 -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 +MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 +MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601596 MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275122 MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601612 MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis, congenital heart defects, and thumb anomalies syndrome MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung agenesis, congenital heart defects, and thumb anomalies syndrome -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mardini-nyhan association -MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cysts of iris pigment epithelium MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruffles and cysts of iris pigment epithelium -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 +MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cysts of iris pigment epithelium MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntd, folate-sensitive MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, folate-sensitive -MONDO:0011121 paragangliomas 2 skos:closeMatch OMIM:601650 paragangliomas 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601650 +MONDO:0011121 paragangliomas 2 skos:closeMatch OMIM:601650 paragangliomas 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity MONDO:0011122 obesity disorder skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity -MONDO:0011122 obesity disorder skos:narrowMatch ICD10CM:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity -MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity +MONDO:0011122 obesity disorder skos:narrowMatch ICD10CM:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011122 obesity disorder skos:narrowMatch ICD10WHO:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement MONDO:0011123 type 1 diabetes mellitus 15 skos:closeMatch OMIM:601666 iia 1 diabetes mellitus 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with abnormal dentition -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with abnormal dentition MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866507 MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601668 -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with hair abnormality and mental and growth retardation -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 1, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with abnormal dentition +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with abnormal dentition MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay syndrome -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy with congenital ichthyosis MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, photosensitive +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy with congenital ichthyosis MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 1, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011126 acute insulin response skos:closeMatch OMIM:601676 acute insulin response semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym air +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with hair abnormality and mental and growth retardation MONDO:0011126 acute insulin response skos:closeMatch NCIT:C73434 Air semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label air +MONDO:0011126 acute insulin response skos:closeMatch OMIM:601676 acute insulin response semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym air MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym freeman-sheldon syndrome variant -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 +MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sheldon-hall syndrome MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sheldon-hall syndrome MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 -MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sheldon-hall syndrome +MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym todv syndrome -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alves syndrome -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichooculodermovertebral syndrome +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601701 MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601705 -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866425 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601706 -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curry-jones syndrome +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601707 -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866423 -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 -MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 quebec semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curry-jones syndrome +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 quebec semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866423 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 +MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601718 MONDO:0011139 preaxial hallucal polydactyly skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601759 -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type 1 MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musculocontractural eds MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type 1 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musculocontractural eds MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601777 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln6 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601794 -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln6 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma-obesity-hypogenitalism-mental retardation syndrome MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma-obesity-hypogenitalism-mental retardation syndrome +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601794 MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265449 -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601803 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 +MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 18q- syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 18q- syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601812 +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866182 +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601812 MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601813 -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601815 MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601815 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, persistent MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, persistent MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866168 +MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 +MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 MONDO:0011155 vacuolar Neuromyopathy skos:closeMatch OMIM:601846 vacuolar neuromyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gomez-lopez-hernandez syndrome -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomez-lopez-hernandez syndrome +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gomez-lopez-hernandez syndrome +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601853 -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch NCIT:C37864 Autoimmune Lymphoproliferative Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601868 -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601868 MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601869 MONDO:0011161 sperm-specific antigen 1 skos:closeMatch OMIM:601876 sperm-specific antigen 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fertilization antigen type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601885 -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs5 MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601887 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs6 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601888 +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibronectin glomerulopathy MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, atrial septal defect, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601927 -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011168 type 1 diabetes mellitus 10 skos:closeMatch OMIM:601942 iia 1 diabetes mellitus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601954 -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontotrichoungual-digital-palmar syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontotrichoungual-digital-palmar syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontotrichoungual-digital-palmar syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontotrichoungual-digital-palmar syndrome MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 +MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601992 -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia with secondary hypocalcemia +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, intestinal, with secondary hypocalcemia MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homg MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602014 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865974 -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602032 +MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile convulsions and paroxysmal choreoathetosis, familial +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile convulsions and paroxysmal choreoathetosis, familial MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865926 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile convulsions and paroxysmal choreoathetosis, familial -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile convulsions and paroxysmal choreoathetosis, familial MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial infantile, with paroxysmal choreoathetosis MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, autosomal recessive MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom2 locus -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trimethylaminuria +MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, autosomal recessive MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fish-odor syndrome -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trimethylaminuria -MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trimethylaminuria +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trimethylaminuria MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602082 +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, honeycomb-shaped +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602085 -MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602086 MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602087 MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:602088 nephronophthisis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 -MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 +MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 +MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:602088 nephronophthisis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602092 -MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 +MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602096 MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad5 -MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602096 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602099 -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary thermosensitive MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary thermosensitive +MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary thermosensitive MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865856 MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602107 -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal anadysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602114 -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion dystonia, focal adult-onset -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical dystonia, primary -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865794 -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion dystonia, focal adult-onset MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa syndrome -MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia, mild +MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 +MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865794 MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia related to campomelic dysplasia +MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia, mild MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602196 MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:closeMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckat deficiency MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602247 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 MONDO:0011208 malignant atrophic papulosis skos:closeMatch OMIM:602248 malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papulosis, malignant atrophic -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, axial -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd, axial -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, axial -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axial smd -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865695 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 -MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axial smd +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, axial +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, axial +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd, axial MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar lipomatosis, unusual facies, and developmental delay MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierpont syndrome +MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602342 MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdr3 deficiency -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602361 -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 -MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia, lethal, with gracile bones +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym habrodysplasia +MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia, lethal, with gracile bones +MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 +MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602361 MONDO:0011216 hemochromatosis type 2A skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602390 MONDO:0011216 hemochromatosis type 2A skos:closeMatch OMIM:602390 hemochromatosis, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, juvenile -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602398 MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865596 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602398 MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with hypotrichosis, autosomal recessive +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406715 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602401 -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602404 -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602433 +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602404 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865409 +MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602433 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, distal hereditary motor, with pyramidal features -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602440 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, nonprogressive -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602440 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069681 -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, partial -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan-type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athabaskan severe combined immunodeficiency MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs-scid +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athabaskan severe combined immunodeficiency +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with sensitivity to ionizing radiation +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabascan type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602450 MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan-type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, athabascan type -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with sensitivity to ionizing radiation +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602471 MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865361 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865349 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, ethylmalonic MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, ethylmalonic -MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ossification of the posterior longitudinal ligament of spine MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossification of the posterior longitudinal ligament of spine +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ossification of the posterior longitudinal ligament of spine MONDO:0011231 febrile seizures, familial, 2 skos:closeMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial basilar MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rieger anomaly MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior chamber cleavage syndrome MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label axenfeld anomaly MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rieger anomaly +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602483 MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears syndrome -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602484 MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865294 -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602484 MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelvic hypoplasia with lower-limb arthrogryposis MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Hyperinsulinism due to glucokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602485 -MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 +MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangic chondrodysplasia punctata -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata +MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrophthalmia, colobomatous, with microcornea MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrophthalmia, colobomatous, with microcornea -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly-cutis marmorata telangiectatica congenita -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-cutis marmorata telangiectatica congenita MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602501 MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-capillary malformation +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-cutis marmorata telangiectatica congenita +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 +MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness with mild renal dysfunction MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, neonatal, with sensorineural deafness MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 -MONDO:0011243 grange syndrome skos:closeMatch OMIM:602531 grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial occlusive disorder, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865267 -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602535 +MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 +MONDO:0011243 grange syndrome skos:closeMatch OMIM:602531 grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial occlusive disorder, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall-smith syndrome MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602535 MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosis, hystrix-like, with deafness +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hid syndrome MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602541 MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865233 MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with mitochondrial structural abnormalities -MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal atresia, hypospadias, and penoscrotal inversion -MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal atresia, hypospadias, and penoscrotal inversion MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865208 MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602553 +MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal atresia, hypospadias, and penoscrotal inversion +MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal atresia, hypospadias, and penoscrotal inversion MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602554 -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865185 MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865184 +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865185 MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602558 -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes-lesenfants syndrome +MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865184 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with macroblepharon and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with macroblepharon and macrostomia +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroblepharon, ectropion, hypertelorism, and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602562 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865181 -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroblepharon, ectropion, hypertelorism, and macrostomia -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ib -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpi deficiency -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes-lesenfants syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saguenay-lac saint-jean syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein-losing enteropathy-hepatic fibrosis syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpi deficiency +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ib +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602579 MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment anomalies with or without cataract -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootic dysplasia MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602588 +MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602594 MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602612 -MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type -MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsion dystonia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torsion dystonia type 6 semapv:RegularExpressionReplacement MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602629 +MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 +MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011265 tooth agenesis, selective, 2 skos:closeMatch OMIM:602639 tooth agenesis, selective, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, proximal -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, proximal MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement +MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrst MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration -MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 +MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym predisposing for prostate cancer MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602759 -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 +MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 +MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602772 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss +MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosai-dorfman disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosai-dorfman disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss -MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muenke nonsyndromic coronal craniosynostosis -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864436 -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 +MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 +MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 +MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muenke nonsyndromic coronal craniosynostosis MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602875 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 @@ -17594,1331 +17416,1316 @@ MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch O MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ic, formerly -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell lung cancer MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer suppressor MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsg11 -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polip syndrome -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, tymp-related +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, tymp-related +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603098 +MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603098 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch OMIM:603116 cdags syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, anal anomalies, and porokeratosis -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603116 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603116 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap syndrome -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930997 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch OMIM:603147 congenital disorder of glycosylation, iia ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ic -MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930997 MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 5 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 7 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 7 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603194 -MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603204 -MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 18-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 8 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864112 -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 +MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 18-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prion disorder, early-onset, with prominent psychiatric features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington-like neurodegenerative disorder, autosomal dominant +MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864112 +MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011302 type 1 diabetes mellitus 17 skos:closeMatch OMIM:603266 iia 1 diabetes mellitus 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603278 -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 +MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603285 MONDO:0011307 schizophrenia 2 skos:closeMatch OMIM:603342 schizophrenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 11q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish lethal neonatal metabolic syndrome MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, finnish, with hepatic hemosiderosis -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 +MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 +MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864002 -MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863959 +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603386 +MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meg-pmg-megacc syndrome MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, mega corpus callosum, and complete lack of motor development MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, polymicrogyria, mega corpus callosum syndrome -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meg-pmg-megacc syndrome MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603387 MONDO:0011314 Graves disease, susceptibility to, 2 skos:closeMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grd2 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863881 +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603467 MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group f MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch NCIT:C125707 Fanconi Anemia, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type ii -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrin deficiency -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrin deficiency MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NCIT:C150603 Citrullinemia Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrin deficiency -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 +MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niid +MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1963674 MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603516 -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement +MONDO:0011331 congenital chylothorax skos:exactMatch NCIT:C98891 Congenital Chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chylothorax, congenital -MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylothorax, congenital MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrothorax, congenital -MONDO:0011331 congenital chylothorax skos:exactMatch NCIT:C98891 Congenital Chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax +MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylothorax, congenital MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfss MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym m syndrome MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603543 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity type 2 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603546 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863732 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity type 2 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh4 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh4 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603552 -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh2 MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh2 +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603553 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069097 -MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with hypereosinophilia MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticuloendotheliosis, familial, with eosinophilia +MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with hypereosinophilia MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603563 MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863704 -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 -MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheobronchial stenosis, congenital MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchial stenosis, congenital -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iif -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603585 +MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheobronchial stenosis, congenital +MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970344 -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 +MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603585 +MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iif MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863688 +MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603622 -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603649 MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603671 MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acromelic frontonasal dysplasia -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603678 -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbc +MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capb MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603688 -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863599 +MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbc MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603689 +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863599 MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:closeMatch OMIM:603694 iia 2 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603720 -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young-simpson syndrome MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603736 +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young-simpson syndrome +MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 +MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian germ cell cancer MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603744 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603786 MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603802 +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb1, formerly -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb2, formerly MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb2, formerly +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb1, formerly MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement +MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0011375 brittle bone disorder skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859069 MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603829 MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 +MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy with ovarian failure -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch NCIT:C122664 Leukoencephalopathy with Vanishing White Matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy with ovarian failure +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858990 MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 +MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603903 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603909 MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt1 -MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intervertebral disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intervertebral disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011385 intervertebral disc degenerative disorder skos:closeMatch NCIT:C27156 Cervical Disc Degenerative Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical disc degenerative disorder semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, protection against MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, protection against MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604060 -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency +MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdl cholesterol, low serum +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604116 -MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vohwinkel syndrome, variant form +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma with ichthyosis +MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vohwinkel syndrome, variant form MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vohwinkel syndrome, variant form -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604121 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, deafness, and narcolepsy, autosomal dominant -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pruriginosa -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa pruriginosa +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa pruriginosa +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604129 MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275114 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604131 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043390 -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604154 +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, facial dysmorphism, and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, facial dysmorphism, and neuropathy -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604169 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch OMIM:604169 left ventricular noncompaction 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 1 with or without congenital heart defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011404 Caronte skos:closeMatch OMIM:602621 CXADR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011404 Caronte skos:closeMatch OMIM:603881 NR1I3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011404 Caronte skos:closeMatch OMIM:604172 caronte semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poikiloderma with neutropenia -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:604173 poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma with neutropenia, clericuzio-type +MONDO:0011404 Caronte skos:closeMatch OMIM:602621 CXADR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604173 +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:604173 poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma with neutropenia, clericuzio-type MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604185 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10 with or without peripheral neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858712 -MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sm2 +MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604213 MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 82, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with neuroserpin inclusion bodies -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604218 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, familial, with neuroserpin inclusion bodies -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with collins bodies MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 -MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal dominant +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with collins bodies +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with neuroserpin inclusion bodies MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 +MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal dominant MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 -MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 +MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 +MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 +MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604233 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604250 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604271 -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity, partial +MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity, partial +MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity, partial MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym increased responsiveness to growth hormone +MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604271 MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604273 -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970309 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 +MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970309 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal, with ocular abnormalities and mental retardation MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, proximal, autosomal recessive -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2e +MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2e MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 -MONDO:0011424 Carney triad skos:closeMatch OMIM:604287 carney triad semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858592 -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 +MONDO:0011424 Carney triad skos:closeMatch OMIM:604287 carney triad semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceruloplasmin deficiency +MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemosiderosis, systemic, due to aceruloplasminemia MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoceruloplasminemia -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:closeMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascariasis, susceptibility to MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 +MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic juvenile rheumatoid arthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059177 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, systemic juvenile -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic juvenile rheumatoid arthritis MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile chronic polyarthritis +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852438 MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833118 MONDO:0011431 MASS syndrome skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858556 MONDO:0011431 MASS syndrome skos:closeMatch OMIM:604308 mass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overlap connective tissue disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis-intellectual disability syndrome, verloes type -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604314 +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604317 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, severe infantile axonal, with respiratory failure +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858517 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, diaphragmatic +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, severe infantile axonal, with respiratory failure MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858517 MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604321 MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acne, adult +MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acne, adult MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne, adult -MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858501 -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604326 +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858501 +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt2 -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 +MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064334 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604348 +MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011443 febrile seizures, familial, 4 skos:closeMatch OMIM:604352 febrile seizures, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604356 MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604360 -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch NCIT:C148317 Spastic Paraplegia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with pparg mutations MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604367 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 +MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604377 MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy +MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604377 +MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 +MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 +MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wh/ht MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, autosomal recessive MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 2, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wh/ht -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus and bicuspid aortic valve with hand anomalies +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604381 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858420 MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 -MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604387 nephronophthisis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604636 NXPH3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 +MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604387 nephronophthisis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related +MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604400 MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604401 -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604403 +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604403 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic arthritis, pyoderma gangrenosum and acne -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic sterile arthritis, pyoderma gangrenosum, and acne +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic arthritis, pyoderma gangrenosum and acne MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604431 MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604432 MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858351 MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma with follicular differentiation MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal cell carcinoma, infundibulocystic MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, infundibulocystic -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, swedish -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label welander distal myopathy -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym welander distal myopathy MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal dominant +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym welander distal myopathy MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604454 -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, swedish +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label welander distal myopathy +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy, proximal type, formerly MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604498 +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327915 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amegakaryocytic thrombocytopenia, congenital MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amegakaryocytic thrombocytopenia, congenital MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/skin fragility syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/skin fragility syndrome MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/skin fragility syndrome +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/skin fragility syndrome +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604537 MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604559 MONDO:0011474 progressive familial heart block type IB skos:closeMatch OMIM:604559 progressive familial heart block, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfhbib -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858278 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604571 -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858266 +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858278 +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 MONDO:0011476 MHC class I deficiency skos:exactMatch NCIT:C171267 Bare Lymphocyte Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bare lymphocyte syndrome type 1 MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hla class type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch OMIM:604625 tooth agenesis, selective, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858266 +MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604571 MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604625 +MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch OMIM:604625 tooth agenesis, selective, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca syndrome MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca-weidemann syndrome -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocirculatory asthenia MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soldiers heart -MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch NCIT:C85020 Postural Orthostatic Tachycardia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postural orthostatic tachycardia syndrome -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocirculatory asthenia +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch NCIT:C84973 Orthostatic Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604757 -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604765 +MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:126090 PCBD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:604771 polycystic bone disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604772 MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604777 -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858118 -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858118 +MONDO:0011487 Huntington disease-like 3 skos:closeMatch OMIM:604802 huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington disorder-like neurodegenerative disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858114 MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604802 -MONDO:0011487 Huntington disease-like 3 skos:closeMatch OMIM:604802 huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington disorder-like neurodegenerative disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604804 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858106 -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panbronchiolitis, diffuse MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panbronchiolitis, diffuse MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpb -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panbronchiolitis, diffuse +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym namaqualand hip dysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604864 -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label north american indian childhood cirrhosis -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym north american indian childhood cirrhosis MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858051 MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604901 -MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 9 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym north american indian childhood cirrhosis +MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label north american indian childhood cirrhosis MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 1q42-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 9 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011499 Okamoto syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 MONDO:0011499 Okamoto syndrome skos:closeMatch OMIM:604916 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation MONDO:0011499 Okamoto syndrome skos:closeMatch OMIM:604916 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation -MONDO:0011499 Okamoto syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858042 MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604919 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858032 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical defects, wormian bones, and dentinogenesis imperfecta MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical defects, wormian bones, and dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical defects, wormian bones, and dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858032 +MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604928 MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604928 MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604931 -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605013 +MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microhydranencephaly MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microhydranencephaly +MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605013 MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and microcephaly -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microhydranencephaly -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 +MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypolipidemia, familial, combined MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypolipidemia, familial, combined -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy, familial infantile +MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:86909 Myoclonic epilepsy of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917800 -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, familial infantile -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605027 -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy, familial infantile +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605027 MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:closeMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ldlc, mild elevation of MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605039 MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796232 -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bohring-opitz syndrome +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch NCIT:C131533 Bohring-Opitz Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:closeMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chzam -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spiegler-brooke syndrome +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spiegler-brooke syndrome +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605055 -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 +MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243002 -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605067 -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 +MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 +MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011516 early response to neural induction gene skos:closeMatch OMIM:605105 early response to neural induction gene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erni MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854631 MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch OMIM:605130 wiedemann-steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hairy elbows, short stature, facial dysmorphism, and developmental delay MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605130 MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605192 MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605192 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854568 +MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605229 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605231 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931071 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605233 MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605244 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, severe congenital MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, severe congenital -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm type 2 +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm type 2 +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605259 -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854488 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854470 MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605274 -MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854470 MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605275 MONDO:0011531 Noonan syndrome 2 skos:closeMatch OMIM:605275 noonan syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome, autosomal recessive -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy preaxial brachydactyly syndrome -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854466 -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605285 +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy preaxial brachydactyly syndrome +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 +MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605285 +MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605293 -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly/autism syndrome -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly/autism syndrome -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly/autism syndrome +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly/autism syndrome MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605355 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605361 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605361 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605362 -MONDO:0011544 paragangliomas 3 skos:closeMatch OMIM:605373 paragangliomas 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605373 -MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011544 paragangliomas 3 skos:closeMatch OMIM:605373 paragangliomas 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605375 MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605376 -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 +MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxic cerebral palsy MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch NCIT:C97168 Ataxic Cerebral Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxic cerebral palsy -MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605389 MONDO:0011549 hypotrichosis 1 skos:closeMatch OMIM:605389 hypotrichosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis simplex, generalized, hereditary -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label segawa syndrome, autosomal recessive +MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605389 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, infantile, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label segawa syndrome, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal recessive -MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 15q15-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catatonia, periodic +MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 15q15-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605428 -MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, multiple MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, nonsyndromic -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 +MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, multiple MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 +MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 2 semapv:RegularExpressionReplacement MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma beta-amyloid-42 level quantitative trait locus -MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 6, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 2 semapv:RegularExpressionReplacement MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 6, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma beta-amyloid-42 level quantitative trait locus MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605543 -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605544 +MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605544 MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605549 -MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome, protection against MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:closeMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms2 MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605582 MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605588 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854154 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854150 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854150 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcmt2b MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi1/dfna39 syndrome -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dentinogenesis imperfecta type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dgi1 syndrome MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605594 +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dgi1 syndrome +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dentinogenesis imperfecta type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011572 type 1 diabetes mellitus 18 skos:closeMatch OMIM:605598 iia 1 diabetes mellitus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605627 MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854108 +MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854107 MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605635 -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 3, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, papillary, with papillary renal neoplasia +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prn1 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, papillary, with papillary renal neoplasia MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, papillary, with papillary renal neoplasia -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854104 -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854065 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 MONDO:0011579 late-onset retinal degeneration skos:closeMatch OMIM:605670 late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, late-onset, autosomal dominant +MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854065 +MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605672 -MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with woolly hair and keratoderma -MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854063 MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605676 +MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with woolly hair and keratoderma +MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605711 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, italian variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, flemish variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, hereditary, with cerebral hemorrhage, dutch variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy, app-related +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral amyloid angiopathy, app-related +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, flemish variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, italian variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad1 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited cancer-predisposing syndrome due to biallelic brca2 mutations MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605724 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad1 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d1 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal hereditary motor neuropathy, jerash type -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central saccular, with sutural opacities MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central pouch-like, with sutural opacities MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 +MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 -MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostaglandin-endoperoxide synthase type 1 deficiency, platelet semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605738 +MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605738 -MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive, early-onset, pulverulent -MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605749 +MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605750 -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 +MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:closeMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, hypergonadotropic, type 20 type, with short stature and recurrent metabolic acidosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605779 -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital onychodysplasia -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodysplasia, isolated congenital +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital onychodysplasia +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605779 MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, with asthma MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch OMIM:605808 birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bscr -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 +MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853959 +MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 +MONDO:0011599 birdshot chorioretinopathy skos:closeMatch OMIM:605808 birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bscr MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia1, formerly MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 +MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853942 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, neonatal intrahepatic, caused by citrin deficiency MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605818 -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonaka distal myopathy -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with rimmed vacuoles +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with rimmed vacuoles MONDO:0011603 GNE myopathy skos:exactMatch NCIT:C176900 Nonaka Myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonaka myopathy +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonaka distal myopathy +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, hereditary, autosomal recessive -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with rimmed vacuoles -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 +MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloocular syndrome MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloocular syndrome -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basaloid follicular hamartoma syndrome, generalized, autosomal dominant -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant +MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 -MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label narcolepsy type 2 semapv:RegularExpressionReplacement +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605841 +MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label narcolepsy type 2 semapv:RegularExpressionReplacement MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency +MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 +MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, nonketotic -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 -MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, autosomal recessive early-onset, digenic, pink1/dj1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch NCIT:C184990 Parkinson Disease 6, Early Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, early onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, autosomal recessive early-onset, digenic, pink1/dj1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcs2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hmg-coa synthase deficiency +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751532 -MONDO:0011615 East Texas bleeding disorder skos:closeMatch OMIM:605913 bleeding disorder, east texas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdet -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853831 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605913 +MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853831 +MONDO:0011615 East Texas bleeding disorder skos:closeMatch OMIM:605913 bleeding disorder, east texas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdet MONDO:0011616 holoprosencephaly 6 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605934 MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605946 MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853825 MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605967 MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853812 -MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, preaxial polydactyly, and sternal deformity MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar acropectoral syndrome +MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, preaxial polydactyly, and sternal deformity MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:closeMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, uric acid, susceptibility to -MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency -MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyaid syndrome -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291329 MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency +MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291329 MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606003 +MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyaid syndrome +MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:closeMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoch MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism-related speech delay MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrase speech delay, autism-related MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606053 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia with ketoacidosis and leukopenia MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinemia, ketotic -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc deficiency -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iib -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853736 +MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 +MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iib MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606068 -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853733 MONDO:0011631 hemochromatosis type 4 skos:closeMatch OMIM:606069 hemochromatosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, autosomal dominant -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 +MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 +MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853733 +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch NCIT:C168755 Amyotrophic Lateral Sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606071 -MONDO:0011634 rippling muscle disease skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011634 rippling muscle disease skos:exactMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011634 rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 +MONDO:0011634 rippling muscle disease skos:exactMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011634 rippling muscle disease skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 MONDO:0011637 Sener syndrome skos:closeMatch OMIM:606156 sener syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia and dilated virchow-robin spaces -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853566 MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853566 MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome MONDO:0011641 baculum, congenital absence of skos:closeMatch OMIM:606174 baculum, congenital absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os penis, congenital absence of MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crat MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crat -MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606187 MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad7 -MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, radiation-induced +MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606187 MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnri -MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, radiation-induced +MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, radiation-induced MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606190 +MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, radiation-induced MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606217 MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect, partial, with heterotaxy syndrome MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:closeMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, short stature, facial anomalies, and joint dislocations -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telomeric type 22q13 monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telomeric type 22q13 monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phelan-mcdermid syndrome -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 -MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kondoh syndrome +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism +MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kondoh syndrome MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206657 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001882 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft tissue sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma -MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606282 MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606324 MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606325 -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22, with hypertrophic cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gambling, pathologic MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gambling, pathologic -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, juvenile -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, juvenile +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, alpha, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606392 MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606394 -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p16 deletion syndrome, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p21 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p16 deletion syndrome, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848029 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, classic-like MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847987 MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606438 -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606445 MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 +MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606445 MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606451 -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b, with neutropenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmtdi1 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtb -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disorder type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmtdi1 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b, with neutropenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disorder type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606483 MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847874 -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, giant congenital -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606483 MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phace association MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phace association +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847874 MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phaces association +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, giant congenital MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:closeMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, infantile, with enteropathy and deafness -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606552 MONDO:0011681 episodic ataxia type 4 skos:closeMatch OMIM:606552 episodic ataxia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, periodic vestibulocerebellar MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 +MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606552 MONDO:0011682 episodic ataxia type 3 skos:closeMatch OMIM:606554 episodic ataxia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with vertigo and tinnitus -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606574 +MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847836 +MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606574 MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic lupus erythematosus, vitiligo-related MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch NCIT:C26915 Vitiligo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitiligo MONDO:0011685 polysubstance abuse, susceptibility to skos:closeMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drug addiction, susceptibility to -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847827 MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847823 +MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847827 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606595 +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847823 +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fkrp-related MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606640 MONDO:0011693 glaucoma, normal tension, susceptibility to skos:closeMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, normal pressure, susceptibility to -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 16, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606658 +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 16, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606660 MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606661 MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847720 MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847720 MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 -MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphangioleiomyomatosis +MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lung lymphangioleiomyomatosis MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopyramidal degeneration with supranuclear upgaze paresis and dementia MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 9, autosomal recessive, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606705 -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606708 -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement +MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606708 MONDO:0011710 specific language impairment 1 skos:closeMatch OMIM:606711 specific language impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011711 specific language impairment 2 skos:closeMatch OMIM:606712 specific language impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606719 -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma-pancreatic cancer syndrome +MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-pancreatic cancer syndrome +MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome +MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606719 MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma-pancreatic cancer syndrome -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606721 MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606744 MONDO:0011716 acute hemorrhagic leukoencephalitis skos:closeMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahl -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606762 -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606763 MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606763 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051066 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179349 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238198 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179349 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606766 -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with anterior tibial onset MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with anterior tibial onset -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome +MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 +MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606772 -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, obesity, mandibular prognathism, and eye and skin anomalies +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847501 -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011387 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 MONDO:0011726 peripheral arterial occlusive disease 1 skos:closeMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paod1 -MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anon MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorexia nervosa, susceptibility to +MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anon MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorexia nervosa, susceptibility to -MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharospasm, benign essential, susceptibility to -MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharospasm, benign essential, susceptibility to MONDO:0011728 blepharospasm skos:exactMatch NCIT:C118723 Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm +MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharospasm, benign essential, susceptibility to +MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharospasm, benign essential, susceptibility to MONDO:0011729 stroke, susceptibility to, 1 skos:closeMatch OMIM:606799 stroke, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strk1 +MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066388 +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose/galactose malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital arthropathy-brachydactyly, familial +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066388 MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital arthropathy-brachydactyly, familial -MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch NCIT:C175208 Familial Digital Arthropathy-Brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital arthropathy-brachydactyly, familial +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 MONDO:0011733 parasomnia, sleep bruxism type skos:closeMatch OMIM:606840 parasomnia, sleep bruxism iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciomandibular myoclonus, nocturnal -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, age at onset of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606852 -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral frontoparietal -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral frontoparietal +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with neuronal migration defect -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral frontoparietal +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral frontoparietal MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606856 MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca1 MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847319 @@ -18929,59 +18736,60 @@ MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphane MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad4 MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606889 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangioma, intraosseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation, primary intraosseous MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847024 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847024 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yellow albinism -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 +MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd, severe early-onset +MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary disorder, chronic obstructive, severe early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606966 MONDO:0011752 nephronophthisis 4 skos:closeMatch OMIM:606966 nephronophthisis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis type 4, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606984 +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhha2 +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606984 MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606995 MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606996 +MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606995 MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606996 MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607004 MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086431 +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 +MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011760 Scheie syndrome skos:closeMatch OMIM:607016 scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps v, formerly -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607017 -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607039 -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607060 -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607078 +MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607060 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microepiphyseal dysplasia, bilateral hereditary MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -18989,135 +18797,131 @@ MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 e MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, matn3-related MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 5 semapv:RegularExpressionReplacement MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607078 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846843 -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607080 MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751325 +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607080 +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whirler, mouse, homolog of -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607084 -MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myas1 +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whirler, mouse, homolog of MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607085 +MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myas1 MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607087 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn3 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iid +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931009 MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607091 -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anauxetic dysplasia -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iid MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anauxetic dysplasia MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846796 MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia +MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607101 MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal cancer MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal carcinoma -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch NCIT:C3871 Nasopharyngeal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607107 -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal cancer -MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem inflammatory disorder, neonatal-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch NCIT:C3871 Nasopharyngeal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem inflammatory disorder, neonatal-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607115 +MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607116 MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad8 MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607116 MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with multiple epiphyseal dysplasia and distinctive facies MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607131 MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:closeMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lel MONDO:0011780 specific language impairment 3 skos:closeMatch OMIM:607134 specific language impairment 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607136 MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 17 -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 17 semapv:RegularExpressionReplacement -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 +MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607136 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931001 -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ig -MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label moyamoya disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607151 -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607152 -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 19, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 +MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym allergic rhinitis -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic rhinitis +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic rhinitis -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic rhinitis +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis +MONDO:0011786 allergic rhinitis skos:closeMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2i MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607155 -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846671 +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607161 MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple congenital anomalies syndrome with cloverleaf skull MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies syndrome with cloverleaf skull -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607161 -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846671 MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607174 MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, familial, susceptibility to MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, familial, susceptibility to -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 MONDO:0011790 Amish lethal microcephaly skos:closeMatch OMIM:607196 microcephaly, amish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 3 (microcephaly type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846648 -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 +MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 +MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to dyshormonogenesis, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormonogenesis, genetic defect in, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 MONDO:0011793 celiac disease, susceptibility to, 5 skos:closeMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, total, with microcephaly +MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607214 MONDO:0011796 epilepsy, partial, with pericentral spikes skos:closeMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epps -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paralysis, infantile-onset ascending +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607225 MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931441 MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:closeMatch OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harp syndrome MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607239 -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011800 glioma susceptibility 4 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607248 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 1 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846574 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607250 MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:606923 HCAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607258 +MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 +MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846564 MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711370 @@ -19125,1275 +18929,1263 @@ MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spa MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607271 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch OMIM:607271 caspase 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch OMIM:607271 caspase 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteofibrous dysplasia, susceptibility to MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteofibrous dysplasia, susceptibility to +MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 +MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccnp MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 27, nuclear progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846496 MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis +MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846496 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with saccadic intrusions -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 24, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 24, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 +MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607324 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa3 -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt3 +MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607330 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 -MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency +MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:closeMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds1 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor with balloon cells -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor without balloon cells -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor without balloon cells +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor with balloon cells +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607361 -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846343 -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 MONDO:0011822 Bartter disease type 3 skos:closeMatch OMIM:607364 bartter syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, classic +MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 +MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846343 MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, juvenile-onset MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, juvenile-onset MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607371 MONDO:0011824 autism, susceptibility to, 8 skos:closeMatch OMIM:607373 autism, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts2, formerly -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607398 MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607398 +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt2 +MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10 deficiency, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607426 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ubiquinone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subcortical band heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, classic -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly sequence, isolated -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subcortical band heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly sequence, isolated MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843891 MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607454 +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607458 +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorimotor neuropathy with ataxia, autosomal dominant MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorimotor neuropathy with ataxia, autosomal dominant MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607458 +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, with sensory ataxic neuropathy -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with epilepsy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hurthle cell thyroid neoplasia MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, hurthle cell MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, hurthle cell -MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hurthle cell thyroid neoplasia MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607464 MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607475 MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843816 +MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607475 MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label newfoundland rod-cone dystrophy -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607482 -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607482 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, thiamine-responsive -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, hereditary dysphasic disinhibition +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, primary progressive MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, grn-related -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal lobar degeneration with tdp43 inclusions, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia, ubiquitin-positive -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 -MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011848 headache associated with sexual activity skos:closeMatch OMIM:607504 headache associated with sexual activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign sexual headache -MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label psoriatic arthritis, susceptibility to +MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:closeMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr5 -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 +MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toenail dystrophy, isolated -MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275685 +MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843706 -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607554 -MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:617627 SPAAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar +MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:617627 SPAAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607572 MONDO:0011861 breath-holding Spells skos:closeMatch OMIM:607578 breath-holding spells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhs -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:closeMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpcqtl19 MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to icos defect MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to icos defect MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607596 -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843478 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607598 +MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843478 MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch OMIM:607616 niemann-pick disease, iia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, with visceral involvement and rapid progression semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868679 -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868679 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607625 +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis-sclerosing cholangitis syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843355 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc +MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607625 MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843355 +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis-sclerosing cholangitis syndrome +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 -MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement -MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607634 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7b +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607641 -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcnc MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic nail, with icam1 deficiency +MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcnc MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607644 -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 +MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin fragility-woolly hair syndrome -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin fragility-woolly hair syndrome MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin fragility-woolly hair syndrome +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin fragility-woolly hair syndrome MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607658 +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843285 +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607658 +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubulointerstitial nephritis with uveitis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute tubulointerstitial nephritis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubulointerstitial nephritis with uveitis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubulointerstitial nephritis with uveitis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069039 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607671 MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt13 type -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 +MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607671 MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 +MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 MONDO:0011888 immunodeficiency 67 skos:closeMatch OMIM:607676 immunodeficiency 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym invasive pneumococcal disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607677 MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 +MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607677 +MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607678 +MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 +MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607683 MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607684 -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206141 MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607685 +MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206141 MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypereosinophilic syndrome, idiopathic MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypereosinophilic syndrome, idiopathic MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607688 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, delayed dentition, and hypomyelination +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentoleukoencephalopathy -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, delayed dentition, and hypomyelination -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition -MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2 with vocal cord paresis, autosomal recessive MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tosti syndrome MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501846 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tosti syndrome -MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607728 +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 +MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607728 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843173 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with pyramidal features, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843164 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 +MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843164 +MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607736 -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal-infantile -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal-infantile MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607765 -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607778 MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, juvenile myelomonocytic -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelomonocytic -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 +MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607778 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607785 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349639 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023249 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, juvenile myelomonocytic +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelomonocytic MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate d MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843075 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607791 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607812 +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate d MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843042 -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607812 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement +MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607821 -MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 3, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and unusual plaques semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and apraxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 +MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and unusual plaques semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607823 -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 +MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 +MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 3, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 +MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 3, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anxiety MONDO:0011918 anxiety skos:closeMatch OMIM:607834 anxiety semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harm avoidance -MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement +MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607841 MONDO:0011921 aural atresia, congenital skos:closeMatch OMIM:607842 aural atresia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, congenital, with hyposmia MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607842 -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842930 MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842930 MONDO:0011923 osteoarthritis susceptibility 3 skos:closeMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee/hip MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand2 MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 9q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to partial lama2 deficiency MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lama2-related muscular dystrophy +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy type 1a -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607855 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lama2-related muscular dystrophy MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607859 -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346073 -MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, tufted -MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 +MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 +MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted +MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, tufted +MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 +MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842884 MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal duplication anomaly MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal duplication anomaly -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842884 -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842870 -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosomy type 1p36 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842870 MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonus and epilepsy, autosomal dominant MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonus and epilepsy, autosomal dominant +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htl -MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607903 MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, localized, autosomal recessive +MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607903 MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607906 -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057070 -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057070 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch NCIT:C123330 Macular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration +MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch NCIT:C123330 Macular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration +MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with brain and digit developmental anomalies MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with brain and digit developmental anomalies MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, exfoliative, autosomal recessive MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis bullosa of siemens-like +MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, exfoliative, autosomal recessive +MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 MONDO:0011938 atrial septal defect 2 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607941 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium tuberculosis, protection against MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607948 -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842704 +MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842691 MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608022 -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch with optic atrophy -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608027 -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842687 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, infantile nonprogressive, autosomal recessive -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym norwegian infantile onset ataxia -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch with optic atrophy MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym norwegian infantile onset ataxia +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, infantile nonprogressive, autosomal recessive MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842676 +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608031 MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute necrotizing, susceptibility to -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 +MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608035 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:closeMatch OMIM:608036 iia 2 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomm-button disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 +MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilic dermatosis, acute febrile -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilic dermatosis, acute febrile -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch OMIM:603671 acromelic frontonasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 -MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 10q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilic dermatosis, acute febrile +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomm-button disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilic dermatosis, acute febrile +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd11 -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842586 +MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 10q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842586 MONDO:0011963 Joubert syndrome 2 skos:closeMatch OMIM:608091 joubert syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608093 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931004 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch OMIM:608093 congenital disorder of glycosylation, iia ij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ij -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftle -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftle +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial temporal lobe epilepsy -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, autosomal recessive -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, autosomal recessive +MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalinopathy, primary MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608099 MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931002 MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ih MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608104 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym re-ped-wc -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842531 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym re-ped-wc MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian hyperstimulation syndrome, familial gestational spontaneous MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608115 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian hyperstimulation syndrome, familial gestational spontaneous MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 MONDO:0011973 zinc deficiency, transient neonatal skos:closeMatch OMIM:608118 zinc deficiency, transient neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zinc deficiency, neonatal, due to low breast milk zinc -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608133 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608154 +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nablus mask-like facial syndrome MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nablus mask-like facial syndrome MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842464 -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842914 +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842914 +MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly, type 3/3-prime/4, associated with metacarpal and metatarsal synostoses semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 4 semapv:RegularExpressionReplacement +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tropical calcific pancreatitis -MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608189 MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842402 +MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis +MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tropical calcific pancreatitis MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608194 -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842398 -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 -MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis +MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023281 +MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024198 MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 +MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608217 MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608219 +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936860 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to antithrombotic effect of MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to cardioprotective effect of -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608224 -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608227 MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid, atypical -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelogenous MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic myeloid MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608232 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid, atypical +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelogenous MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023473 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608232 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009013 -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842362 +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842362 MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608236 MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slowed nerve conduction velocity, autosomal dominant MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label slowed nerve conduction velocity, autosomal dominant +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608236 MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phobia, specific -MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, simple -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608264 +MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement +MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608264 MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608265 +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608265 MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608266 MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:closeMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return, multiple cardiac malformations, and craniofacial and central nervous system abnormalities MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842307 -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 MONDO:0012008 Lelis syndrome skos:closeMatch OMIM:608290 lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with acanthosis nigricans +MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:closeMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds2 MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:closeMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds4 MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:closeMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder with myocardial infarction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate c +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842237 MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842197 -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate a +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label capillary malformation-arteriovenous malformation syndrome MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal dominant MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675369 -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608363 -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012021 myopia 17, autosomal dominant skos:closeMatch OMIM:608367 myopia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 +MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608380 MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608389 MONDO:0012025 branchiootic syndrome 3 skos:closeMatch OMIM:608389 branchiootic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 7-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 8-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608393 +MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608394 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608394 MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608406 +MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842082 +MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608406 MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608415 -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1f MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608423 +MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1f +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, calcification of basal ganglia, and facial dysmorphism MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, calcification of basal ganglia, and facial dysmorphism -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 -MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, protection against +MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608462 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reis-bücklers corneal dystrophy MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reis-bücklers corneal dystrophy MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, geographic -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608471 MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:closeMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacities, congenital, with cornea guttata and corectopia -MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression -MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major depressive disorder +MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major depressive disorder +MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression MONDO:0012048 endogenous depression skos:closeMatch NCIT:C35094 Unipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unipolar depression MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012050 major depressive disorder 1 skos:closeMatch OMIM:608520 major depressive disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ik MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608540 MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931005 -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ik MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd12 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608545 -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen-like syndrome -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrsl MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larsen-like syndrome +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrsl +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen-like syndrome MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608553 MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legionella infection MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:closeMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mci2 -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608562 MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa4 -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement +MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608562 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608565 MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040639 -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ventricular tachycardia +MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar/fibular ray defect and brachydactyly +MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608571 MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar/fibular ray defect and brachydactyly +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar/fibular ray defect and brachydactyly MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608572 MONDO:0012066 atrial fibrillation, familial, 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608583 MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, agpat2-related MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608594 MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial partial lipodystrophy, köbberling type MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608600 -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608611 MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608611 MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837756 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837756 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837750 MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608615 MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement +MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608627 -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 +MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch OMIM:608634 neuronopathy, distal hereditary motor, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608634 -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch OMIM:608634 neuronopathy, distal hereditary motor, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 15q11-q13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675336 -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa decarboxylase deficiency -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddc deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddc deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa decarboxylase deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608644 -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 3 semapv:RegularExpressionReplacement -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608645 -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608646 +MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608646 MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 +MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis-prematurity syndrome -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch OMIM:608649 ichthyosis prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 +MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608653 MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608653 MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608654 MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch NCIT:C156360 Neuropathy, Hereditary Sensory and Autonomic, Type V semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type v MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608656 -MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer, hereditary, on chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608658 -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with distinctive facial appearance and brachydactyly +MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer, hereditary, on chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with distinctive facial appearance and brachydactyly +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with distinctive facial appearance and brachydactyly MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837564 MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608670 MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608673 MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608687 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837541 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837541 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with spasmodic cough -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q12 duplication syndrome, type 260-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysphonia -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837530 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q12 duplication syndrome, type 260-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aica-ribosuria due to atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837530 +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency MONDO:0012100 major depressive disorder 2 skos:closeMatch OMIM:608691 major depressive disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608695 MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch OMIM:608695 glaucoma 1, open angle, j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch OMIM:608696 glaucoma 1, open angle, k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608696 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837518 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012104 acquired partial lipodystrophy skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apld, susceptibility to -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, progressive -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047888 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047888 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495801 -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatosis with polyangiitis -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608716 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837481 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608728 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, matrilin-3 related MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt4 -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1 deficiency -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608747 MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1 deficiency MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837475 -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608747 +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation MONDO:0012111 hypertrophic cardiomyopathy 8 skos:closeMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012112 hypertrophic cardiomyopathy 10 skos:closeMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:closeMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome with mental retardation, deafness, and cataract -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837454 MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608768 MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608776 +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 +MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608776 MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type il MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg il -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie +MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia with pyruvate dehydrogenase phosphatase deficiency -MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608796 MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608796 MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ie MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden infant death with dysgenesis of the testes syndrome +MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudden infant death with dysgenesis of the testes syndrome -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden infant death with dysgenesis of the testes syndrome +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher-like disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837355 -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837342 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2j MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608807 MONDO:0012128 transposition of the great arteries, dextro-looped skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608808 -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, with or without cataract and/or cardiomyopathy MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-b crystallin-related late-onset distal myopathy MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, alpha-b crystallin-related +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, with or without cataract and/or cardiomyopathy +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608811 MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and cancer, susceptibility to MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608816 -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, lethal neonatal MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, lethal neonatal MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833518 -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608837 -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608837 +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608840 MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, large-related MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608864 -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 +MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stomatin-deficient cryohydrocytosis with neurologic defects MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stomatin-deficient cryohydrocytosis with neurologic defects -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 +MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh3 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh3 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds5 MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608908 -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia, posterior -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 +MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608911 MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 +MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 +MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms id, formerly -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms id, formerly MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837073 -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837073 MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608957 MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837065 -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd8 deficiency, familial MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd8 deficiency, familial +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd8 deficiency, familial +MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608978 +MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837026 -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 +MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608978 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750433 +MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifid nose with or without anorectal and renal anomalies MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies +MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsa -MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608988 MONDO:0012169 premature ovarian failure 3 skos:closeMatch OMIM:608996 premature ovarian failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof3 -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant, without vestibular involvement -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency with myopathy and neuropathy +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency with myopathy and neuropathy MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609016 MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609016 MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012175 cataract 28 skos:closeMatch OMIM:609026 cataract 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 +MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836929 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 -MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 +MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836916 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior column ataxia with retinitis pigmentosa MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609039 -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609040 -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609040 MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836899 MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836899 +MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609048 -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 +MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 +MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 MONDO:0012184 Pierson syndrome skos:closeMatch OMIM:609049 pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria-congenital nephrotic syndrome -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836862 -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 +MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group i MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609053 -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group i -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group j -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch NCIT:C129027 Fanconi Anemia, Complementation Group J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j +MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j +MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group j MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609054 +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836823 MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy with pretibial epidermolysis bullosa and deafness -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoencephalopathy, early fatal progressive -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836797 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoencephalopathy, early fatal progressive +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836797 MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent neonatal, with cerebellar agenesis MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836780 +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1g MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609115 MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with severe scoliosis +MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 -MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic dominant +MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with severe scoliosis MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609129 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 +MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic dominant +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NCIT:C2870 Aplastic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia, susceptibility to MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:182040 Aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012198 PCWH syndrome skos:closeMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome, neurologic variant +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 +MONDO:0012198 PCWH syndrome skos:closeMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome, neurologic variant MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609136 -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609140 -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609141 +MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch OMIM:609148 malaria, mild, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune, autosomal dominant -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic thyroid hyperplasia, autosomal dominant MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, congenital nonautoimmune +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic thyroid hyperplasia, autosomal dominant +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia falkirk +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia chiswick MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia east london -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609153 +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia falkirk MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia lille MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, mild +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609153 MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836705 -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia chiswick -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609161 MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant striatal neurodegeneration -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 +MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609161 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label czech dysplasia -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with precocious osteoarthritis +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudorheumatoid dysplasia, progressive, with hypoplastic toes MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym czech dysplasia +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with precocious osteoarthritis MONDO:0012207 umbilicus, familial flat skos:closeMatch OMIM:609164 umbilicus, familial flat semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flat umbilicus, autosomal dominant -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratoderma, reticular MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarau disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, congenital reticular -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratoderma, reticular +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiogenic-deafness syndrome +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchiogenic-deafness syndrome MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836673 MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609166 -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchiogenic-deafness syndrome -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiogenic-deafness syndrome MONDO:0012210 migraine with aura, susceptibility to, 7 skos:closeMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr7 +MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg if MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609180 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836669 -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg if -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz aortic aneurysm syndrome MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836632 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch NCIT:C131451 Familial Glucocorticoid Deficiency Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch NCIT:C131451 Familial Glucocorticoid Deficiency Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, myotilin-related MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, myotilin-related MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 +MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836602 MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609220 -MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with occipital cephalocele, autosomal dominant MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with occipital cephalocele, autosomal dominant -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836573 -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836573 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency, adult-onset -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836522 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency, adult-onset MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:closeMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie unna-like scalp hypotrichosis MONDO:0012224 febrile seizures, familial, 6 skos:closeMatch OMIM:609253 febrile seizures, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609254 -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609254 MONDO:0012226 febrile seizures, familial, 5 skos:closeMatch OMIM:609255 febrile seizures, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836485 @@ -20401,105 +20193,98 @@ MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:9994 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia2 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia2 MONDO:0012233 Li-Fraumeni syndrome 2 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609265 +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609270 +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836474 -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609270 +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609273 -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609283 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609283 MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012240 nemaline myopathy 4 skos:closeMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012240 nemaline myopathy 4 skos:closeMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609286 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syncope, familial vasovagal -MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial vasovagal +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609286 MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial neurocardiogenic +MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial vasovagal +MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syncope, familial vasovagal MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome -MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome +MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609299 -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 +MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836395 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836395 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609307 MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal dominant, fgf14-related -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609307 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609308 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2k -MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609310 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609311 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836336 MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836330 MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 -MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mednik +MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoid tumor, atypical MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malignant rhabdoid tumor, somatic MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor, posterior fossa, of infancy, familial -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoid tumor, atypical MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at/rt -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609324 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with miniepiphyses MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with miniepiphyses -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836307 -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836295 -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836295 +MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609345 MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrorenodigital syndrome with limb malformations and triradiate acetabula -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609352 MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609352 MONDO:0012259 colloid cysts of third ventricle skos:closeMatch OMIM:609363 colloid cysts of third ventricle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelial cysts of third ventricle +MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch OMIM:609376 cataract 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom4 locus -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 4-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609402 MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609403 MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -20509,175 +20294,175 @@ MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/ MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609404 MONDO:0012267 holoprosencephaly 8 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609408 MONDO:0012268 AIDS skos:closeMatch NCIT:C2851 Acquired Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired immunodeficiency syndrome -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674949 -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, with ulnar hand anomalies MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom-u MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, mesoaxial synostotic, with phalangeal reduction -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly, mesoaxial synostotic, with phalangeal reduction -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609432 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836206 -MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, keratoconus, febrile seizures, and sinoatrial block +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609432 +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly, mesoaxial synostotic, with phalangeal reduction +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, mesoaxial synostotic, with phalangeal reduction MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, keratoconus, febrile seizures, and sinoatrial block +MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, keratoconus, febrile seizures, and sinoatrial block +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609439 +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609439 MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016524 -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproic acid embryopathy MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 -MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valproate embryopathy, susceptibility to +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproate embryopathy, susceptibility to -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valproate embryopathy, susceptibility to MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836173 MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609452 -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldberg-shprintzen syndrome -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goldberg-shprintzen syndrome -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 +MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609460 +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goldberg-shprintzen syndrome +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldberg-shprintzen syndrome MONDO:0012282 Al-Gazali syndrome skos:closeMatch Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609465 -MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nede MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport/focal segmental glomerulosclerosis-like syndrome +MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nede MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609470 -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stickler syndrome, atypical +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stickler syndrome, atypical MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, filamin c-related MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filaminopathy, autosomal dominant +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, filamin c-related +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle filaminopathy MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609524 +MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 +MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of, taci-related MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of, taci-related -MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus, resistance to -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus infection, response to therapy of +MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, resistance to +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus, resistance to MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, susceptibility to -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus infection, response to therapy of +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609533 -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 +MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 MONDO:0012296 lipomyelomeningocele skos:closeMatch Orphanet:268835 Lipomyelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836022 -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609541 -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, optic atrophy, and neuropathy +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, optic atrophy, and neuropathy -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609541 MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome +MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal recessive MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609558 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion myopathy, tk2-related -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501891 -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609560 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion myopathy, tk2-related MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609560 +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501891 MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609566 MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:closeMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr8 -MONDO:0012304 photoparoxysmal response 2 skos:closeMatch OMIM:609572 photoparoxysmal response 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without idiopathic generalized epilepsy MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609572 -MONDO:0012305 photoparoxysmal response 3 skos:closeMatch OMIM:609573 photoparoxysmal response 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without myoclonic epilepsy +MONDO:0012304 photoparoxysmal response 2 skos:closeMatch OMIM:609572 photoparoxysmal response 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without idiopathic generalized epilepsy MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609573 +MONDO:0012305 photoparoxysmal response 3 skos:closeMatch OMIM:609573 photoparoxysmal response 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without myoclonic epilepsy MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609578 MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609579 -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scaphocephaly, maxillary retrusion, and mental retardation MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865070 +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scaphocephaly, maxillary retrusion, and mental retardation +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch NCIT:C74997 Joubert Syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609597 -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital fibrosis syndrome with synergistic divergence MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia with synergistic divergence +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital fibrosis syndrome with synergistic divergence MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609612 -MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609620 -MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609621 +MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609622 -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674937 -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609625 +MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012315 distal 10q deletion syndrome skos:closeMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal chromosome type 10q26 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome +MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609625 +MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674937 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864997 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609628 -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis MONDO:0012316 Majeed syndrome skos:closeMatch NCIT:C119058 Majeed Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym majeed syndrome MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteric neuropathy, familial -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic intestinal, neuropathic +MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal +MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic intestinal, neuropathic MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls1 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609630 -MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder, early-onset +MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609634 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:602192 ADAM10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609638 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, lethal acantholytic MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, lethal acantholytic @@ -20685,529 +20470,521 @@ MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdelet MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth deficiency, facial anomalies, and brachydactyly MONDO:0012325 Nguyen syndrome skos:closeMatch OMIM:609643 nguyen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mca/mr with hypocholesterolemia due to familial hypobetalipoproteinemia +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609646 -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609647 MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tricholemmal cyst MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilar cyst +MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tricholemmal cyst +MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864784 MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609655 -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals +MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MONDO:0012331 migraine with aura, susceptibility to, 9 skos:closeMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr9 -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609706 MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609706 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609727 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proopiomelanocortin deficiency MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857854 -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proopiomelanocortin deficiency +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609741 MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609741 MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012339 celiac disease, susceptibility to, 4 skos:closeMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012340 celiac disease, susceptibility to, 2 skos:closeMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012341 celiac disease, susceptibility to, 3 skos:closeMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs triplication syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams-beuren region duplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs duplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somerville-van der aa syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857844 -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs triplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somerville-van der aa syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609782 +MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad11 -MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853354 +MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 +MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609800 MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:closeMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcfh MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-pancreatic exocrine dysfunction syndrome MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and pancreatic exocrine dysfunction MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609812 MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor h deficiency -MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor h deficiency MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement -MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853294 -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zd1 +MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 +MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 +MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609820 -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609821 MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853278 +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609821 +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder due to p2ry12 defect -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609823 +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, paucibacillary type, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609888 -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835931 -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835931 +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609909 MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609913 +MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609915 -MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609923 MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609924 MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835922 -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609941 -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609942 -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609946 MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609946 +MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609952 MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609952 MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch OMIM:609955 fibromatosis, gingival, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609955 -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609965 -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency, formerly -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609975 +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label natural killer cell and glucocorticoid deficiency with dna repair defect +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyacyl-coa dehydrogenase deficiency MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell deficiency, familial isolated +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell and glucocorticoid deficiency with dna repair defect MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label natural killer cell and glucocorticoid deficiency with dna repair defect MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 4q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand3 MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:closeMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly -MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with ectodermal dysplasia -MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses with alopecia -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 +MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia +MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with ectodermal dysplasia MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteosclerosis with ichthyosis and premature ovarian failure -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis with ichthyosis and premature ovarian failure MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive, with mental retardation +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive, with mental retardation MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864912 +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methylbutyryl glycinuria MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine deficiency, congenital +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864912 MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine synthase deficiency, congenital systemic MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutamine deficiency, congenital +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine deficiency, congenital MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610015 MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 +MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 -MONDO:0012395 cataract 18 skos:closeMatch OMIM:610019 cataract 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012395 cataract 18 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864902 -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012395 cataract 18 skos:closeMatch OMIM:610019 cataract 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610021 MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, exercise-induced -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, pde6h-related -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864902 +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 +MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, pde6h-related +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, symmetric or asymmetric MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, congenital stromal MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital stromal -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864738 +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 MONDO:0012402 opioid dependence, susceptibility to, 1 skos:closeMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ods1 MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610069 MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610071 +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, neonatal, pnpo-related +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, pyridoxine-resistant, plp-sensitive -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610090 -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, neonatal, pnpo-related -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610092 -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, and iris abnormalities +MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0012409 isolated microphthalmia 2 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610093 +MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864706 -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610100 MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 with giant axons semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012412 complement component 7 deficiency skos:closeMatch OMIM:610102 complement component 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c7 deficiency +MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610102 +MONDO:0012412 complement component 7 deficiency skos:closeMatch OMIM:610102 complement component 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c7 deficiency MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864690 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset, with or without pituitary dysfunction -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, cathepsin d-deficient -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis due to cathepsin d deficiency +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, cathepsin d-deficient MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610131 -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857829 +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 +MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857829 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610143 MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610143 MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, neovascular type, susceptibility to MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, wet type, susceptibility to MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610153 -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610153 +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610154 MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610154 +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement MONDO:0012422 type 1 diabetes mellitus 19 skos:closeMatch OMIM:610155 iia 1 diabetes mellitus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857802 -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610156 -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morms MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610156 +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd1 locus -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610181 -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq2 MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq2 +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610187 MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 +MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610189 MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 5 -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-methylglutaconic aciduria type 5 -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ataxia +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610198 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857776 +MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ataxia +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndh syndrome -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, neonatal, with congenital hypothyroidism -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610199 MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, pulverulent, juvenile-onset MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012438 pontocerebellar hypoplasia type 5 skos:closeMatch OMIM:610204 pontocerebellar hypoplasia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar hypoplasia, fetal-onset -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with pulsation MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr10 MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:closeMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr11 -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation, pla2g6-related +MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym karak syndrome +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation, pla2g6-related MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610217 MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853258 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610227 MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853255 -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 +MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853250 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853250 +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610246 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012451 esophagitis, eosinophilic, 1 skos:closeMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophagitis, eosinophilic MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610248 -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610250 -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610250 MONDO:0012454 alcohol sensitivity, acute skos:closeMatch OMIM:610251 alcohol sensitivity, acute semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hangover, susceptibility to MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol intolerance -MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kleefstra syndrome -MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 9q34.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q- syndrome +MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 9q34.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome -MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 +MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002947 -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt5 MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, body mass-related -MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, kidney function-related MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt6 -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, kidney function-related MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement +MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610265 -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, frontotemporal MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, frontotemporal MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853215 +MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, frontotemporal MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610282 MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610283 -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol deficiency -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853205 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610293 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigm deficiency +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol deficiency +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610297 -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer aggressiveness MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610321 MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610329 MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610333 -MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpa, familial MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial, with nocturnal wandering and ictal fear -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpa, familial MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial, with nocturnal wandering and ictal fear MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, kcnv2-related -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835896 -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610357 +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 30, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610357 +MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835896 MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610359 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610370 MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm2 MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610374 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072219 +MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610379 MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch OMIM:610379 west nile virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnv, susceptibility to MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610381 -MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, developmental MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym face blindness +MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, developmental MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, congenital MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610419 +MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610422 MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apmr2 +MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, resistance to MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, susceptibility to -MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610425 -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610427 MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, incomplete, autosomal recessive, formerly +MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610427 MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610430 -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864872 -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type +MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864872 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nans deficiency -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q21.31 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q21.31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610444 -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, rhodopsin-related MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, rhodopsin-related +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 MONDO:0012499 Buruli ulcer, susceptibility to skos:closeMatch OMIM:610446 buruli ulcer, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium ulcerans, susceptibility to MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610448 MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcinosis, tumoral, with normophosphatemia -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, normophosphatemic, familial MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, normophosphatemic, familial +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, normophosphatemic, familial MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial normophosphatemic tumoral calcinosis MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurine methyltransferase deficiency -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurine methyltransferase deficiency MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly, tall stature, and hearing loss syndrome MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, tall stature, and hearing loss syndrome MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864852 @@ -21215,385 +20992,375 @@ MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:cl MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad2 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11, and mild palmoplantar keratoderma with or without woolly hair semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, microcephaly, and severe dermatitis MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, microcephaly, and severe dermatitis -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical nodular dysplasia, primary +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad1 +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical nodular dysplasia, primary +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610489 +MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864843 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610498 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, respiratory failure, and lactic acidosis +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym concentric cardiomyopathy, hypotonia, and lactic acidosis +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610508 -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination and congenital cataract: hcc -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination and congenital cataract: hcc MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610535 +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864652 MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610536 -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864651 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864651 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaucher disorder, atypical, due to saposin c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital myasthenic syndrome type 12 semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 +MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi deletion syndrome +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts deletion syndrome MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts deletion syndrome -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi deletion syndrome -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, insulin-resistant, with acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610549 MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes simplex virus encephalitis -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm3 MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610582 +MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm3 MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610599 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency due to deficiency of steroid type 18-oxidase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-oxidase deficiency -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-oxidase deficiency MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610612 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 3 semapv:RegularExpressionReplacement -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 3 semapv:RegularExpressionReplacement -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-related hae -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae with normal c1 inhibitor concentration and function +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 3 semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 3 semapv:RegularExpressionReplacement MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary angioedema with normal c1 inhibitor activity +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp4 +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11 with microphthalmia and neurodevelopmental abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11 with microphthalmia and neurodevelopmental abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp4 MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610623 MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis and true hermaphroditism +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group b MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpb/cs MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum b/cockayne syndrome -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610655 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610678 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857682 -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610685 MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610687 MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610688 -MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610706 -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with labyrinthine aplasia, microtia, and microdontia -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with lamm -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853144 +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with labyrinthine aplasia, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with inner ear agenesis, microtia, and microdontia +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with lamm MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610708 -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdsd -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdsd MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder without ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder without ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610725 -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610733 -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agranulocytosis, infantile MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agranulocytosis, infantile MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 +MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, recessive, of beauce MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, recessive, of beauce -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610755 +MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 +MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610755 MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 +MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610759 -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg im MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dk1 deficiency +MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg im MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610768 +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835845 -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610773 MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpcd -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial phosphate carrier deficiency -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610798 +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610773 MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835829 +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610798 MONDO:0012562 holoprosencephaly 7 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610828 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch OMIM:610829 holoprosencephaly 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with microphthalmia and first branchial arch anomalies -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group n +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610832 MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch NCIT:C176894 Fanconi Anemia, Complementation Group N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n MONDO:0012568 osteoarthritis susceptibility 4 skos:closeMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis, generalized, without dysplasia -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610840 +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe-like disorder with multiple coagulation factor deficiency -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610842 -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610852 +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe-like disorder with multiple coagulation factor deficiency +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sakoda spectrum +MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610852 MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate +MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sakoda spectrum MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610878 -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931246 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610883 +MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931246 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch OMIM:610883 potocki-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610896 MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:closeMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and allergic rhinitis, susceptibility to +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, autoimmune MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar lipoproteinosis, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary alveolar proteinosis, acquired MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, autoimmune MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970472 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar lipoproteinosis, acquired MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary alveolar proteinosis, acquired MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931035 +MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610921 -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he-zhao deficiency +MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610926 MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:closeMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt7 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, severe epileptic, with autonomic dysfunction -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, syndromal, with intermittent hyperventilation MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, syndromal, with intermittent hyperventilation +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, severe epileptic, with autonomic dysfunction MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 -MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xfe progeroid syndrome -MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xfe progeroid syndrome MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970414 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 +MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610978 MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction -MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463916 +MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with factor i anomaly +MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463916 MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610984 -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610988 MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, early-onset, susceptibility to +MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610988 MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970253 MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610992 MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610997 MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611010 MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch OMIM:611010 fibromatosis, gingival, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611022 -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 MONDO:0012604 isolated microphthalmia 3 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611038 -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970211 MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad12 +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611073 +MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad12 +MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyhydramnios-megalencephaly-symptomatic epilepsy syndrome MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 -MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt12 MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt5 -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 +MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt12 MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 +MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 +MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt5 MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt6 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611093 MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611095 -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 -MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611097 +MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611100 MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611102 -MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q15.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, and male infertility -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 +MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q15.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial aspartyl-trna synthetase deficiency -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970173 +MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970173 MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611131 -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611134 MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome +MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611134 MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611152 MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611154 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hamamy syndrome -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970021 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iih MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 +MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970021 MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iig MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgii/cog1 cerebrocostomandibular-like syndrome MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611209 MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and brain atrophy -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability, motor dysfunction, and joint contractures MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal recessive spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611225 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970011 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611228 -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611252 MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611252 MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611263 MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611274 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase family, member type 8, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd deficiency +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase family, member type 8, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acad8 deficiency -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611291 +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhej1 syndrome MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhej1 syndrome MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation -MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611302 +MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2l MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969785 MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2l MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611308 MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 @@ -21603,339 +21370,331 @@ MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet: MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969652 -MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969645 -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy +MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia with leukoencephalopathy MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 -MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611407 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969623 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 -MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legius syndrome +MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome semapv:RegularExpressionReplacement -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 -MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969623 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611451 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:narrowMatch ICD10CM:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement +MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:closeMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbg deficiency MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticosteroid-binding globulin, elevated -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611493 MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611494 -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969093 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive, intermediate form MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive, intermediate form -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969093 MONDO:0012680 nephronophthisis 7 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611498 MONDO:0012681 febrile seizures, familial, 7 skos:closeMatch OMIM:611515 febrile seizures, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969086 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 -MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611528 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611528 +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cavitary optic disc anomalies MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavitary optic disc anomalies -MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 +MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 -MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012689 premature ovarian failure 5 skos:closeMatch OMIM:611548 premature ovarian failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof5 -MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611553 -MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611554 -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611556 -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 -MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 7 semapv:RegularExpressionReplacement +MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 MONDO:0012695 Meckel syndrome, type 5 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611561 -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 +MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2e, with or without neurologic involvement MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 +MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969040 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611588 -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969038 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, distal, with normal red cell morphology -MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 +MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with mild or no proximal muscle weakness -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611615 +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with mild or no proximal muscle weakness MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial mesial temporal lobe MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611630 -MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, occipitotemporal lobe, and migraine with aura +MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611631 +MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, adult MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611637 -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, adult +MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611638 MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611644 MONDO:0012711 peripapillary atrophy, beta type skos:closeMatch OMIM:611650 peripapillary atrophy, beta iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ppa -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673677 -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, early-onset, with fatal cardiomyopathy -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673677 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia-brachydactyly and distinctive speech +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673649 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatoo dysplasia MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, normocalciuric -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611721 -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined saposin deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined saposin deficiency -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency -MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin a deficiency MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611726 +MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin a deficiency MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy type 3 semapv:RegularExpressionReplacement +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611726 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012722 Dauwerse-Peters syndrome skos:closeMatch OMIM:611733 dauwerse-peters syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, facial dysmorphism, severe brachydactyly, and syndactyly MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611755 -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611762 MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673198 -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673196 +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611762 MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611771 +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673196 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673195 +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile polyarteritis -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026691 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611775 -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch NCIT:C34825 Kawasaki Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile polyarteritis +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611777 MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611783 -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thoracic aortic aneurysm with livedo reticularis and iris flocculi +MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611804 MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein type 4.1 of erythrocyte membrane, defect of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1-minus trait MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1- trait -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bestrophinopathy, autosomal recessive +MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1-minus trait MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bestrophinopathy, autosomal recessive +MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bestrophinopathy, autosomal recessive MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611809 -MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs -MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678492 MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611812 -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678486 +MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs +MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611816 +MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678486 MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch OMIM:611816 temple-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, and absent nails of hallux and pollex -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 9, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 +MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 9, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 +MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 +MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch OMIM:611819 long qt syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia with nasolacrimal duct imperforation and eye coloboma -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with nasolacrimal duct imperforation and eye coloboma -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678482 +MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611863 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678480 +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678482 +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with nasolacrimal duct imperforation and eye coloboma +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia with nasolacrimal duct imperforation and eye coloboma MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611867 +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678480 +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611868 MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611875 MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611876 -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611879 -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, autosomal recessive -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, autosomal recessive -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, autosomal recessive +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, autosomal recessive MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611880 -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase deficiency, red cell +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase a deficiency -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldoa deficiency MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aldolase deficiency MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase deficiency, red cell +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611884 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611890 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678471 MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611891 +MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611895 -MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611897 MONDO:0012754 nanophthalmos 3 skos:closeMatch OMIM:611897 nanophthalmos 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677843 +MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611897 MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611907 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677843 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611926 MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611928 MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611929 -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611938 -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611938 MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677792 +MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611943 +MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677792 MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611944 -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611945 MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936880 -MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611945 +MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611955 MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611958 MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611959 MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612001 MONDO:0012775 thrombocytopenia 4 skos:closeMatch OMIM:612004 thrombocytopenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 +MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 MONDO:0012776 celiac disease, susceptibility to, 7 skos:closeMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012777 celiac disease, susceptibility to, 8 skos:closeMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012778 celiac disease, susceptibility to, 9 skos:closeMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -21944,149 +21703,145 @@ MONDO:0012780 celiac disease, susceptibility to, 11 skos:closeMatch OMIM:612009 MONDO:0012781 celiac disease, susceptibility to, 12 skos:closeMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012782 celiac disease, susceptibility to, 13 skos:closeMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg in -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677590 MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612015 +MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677590 +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677589 -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea and glucosuria, formerly -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677586 -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612020 MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612020 MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 16 semapv:RegularExpressionReplacement -MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677567 -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, tardbp-related -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, tardbp-related MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, tardbp-related +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, rrm2b-related MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 8b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, rrm2b-related MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uric acid concentration, serum, quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612076 -MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, neurologic defects, and endocrinopathy syndrome -MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome -MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 +MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uric acid concentration, serum, quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 -MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612095 +MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 +MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes +MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome +MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, neurologic defects, and endocrinopathy syndrome MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch OMIM:612095 retinitis pigmentosa 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, autosomal recessive, prominin-related +MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612095 MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mft2 -MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schorderet-munier-franceschetti syndrome +MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 +MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear +MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schorderet-munier-franceschetti syndrome MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612109 MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauricular syndrome, schorderet type -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalase deficiency MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalose intolerance MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268187 MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalose intolerance +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalase deficiency MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 -MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia +MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842534 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677349 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612138 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with pyloric atresia MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 23, with or without ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612158 -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 23, with or without ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 +MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 +MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612165 MONDO:0012815 Coats plus syndrome skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coats plus syndrome MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612201 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015560 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 MONDO:0012817 Ewing sarcoma skos:closeMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelioma, peripheral -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612225 MONDO:0012819 diabetic ketoacidosis skos:exactMatch NCIT:C50530 Diabetic Ketoacidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic ketoacidosis MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:closeMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:closeMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:closeMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:closeMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrosarcoma, extraskeletal myxoid MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrosarcoma, extraskeletal myxoid -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612240 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis, infantile +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of infancy MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis, infantile +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis of infancy MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzon syndrome with acanthosis nigricans -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym can +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crouzon syndrome with acanthosis nigricans MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch NCIT:C43180 Can semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label can -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym can MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612260 MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677092 MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612269 @@ -22095,216 +21850,213 @@ MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary d MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612274 MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612279 +MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive, nipal4-related MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612284 -MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 +MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 +MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 +MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612287 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345382 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia, hearing impairment, and cleft palate MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612290 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, hearing impairment, and cleft palate MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612291 -MONDO:0012856 Birk-Barel syndrome skos:closeMatch OMIM:612292 birk-barel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hypotonia and facial dysmorphism -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612292 -MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type +MONDO:0012856 Birk-Barel syndrome skos:closeMatch OMIM:612292 birk-barel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hypotonia and facial dysmorphism MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612293 -MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy -MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy -MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd59 deficiency +MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 +MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd59 deficiency +MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy +MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612301 -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor, with hypogammaglobulinemia +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal recessive -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal recessive +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal recessive MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal recessive +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal recessive +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal recessive MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal recessive MONDO:0012861 premature ovarian failure 6 skos:closeMatch OMIM:612310 premature ovarian failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof6 MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:closeMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor timing quantitative trait locus MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:closeMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digit span quantitative trait locus MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C45301 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch OMIM:612313 glass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glass -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label satb2-associated syndrome -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C66821 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 -MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ingrown hairs +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label satb2-associated syndrome MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili incarnati -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 +MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ingrown hairs MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676732 MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protein s acquired deficiency -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 +MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676732 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protein s acquired deficiency +MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal monosomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1qter deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q43-q44 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal monosomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 +MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1qter deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 +MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd-eds -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocheirodysplasia, ehlers-danlos syndrome-like MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd-eds +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, disseminated superficial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612353 +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612353 MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to heparin cofactor type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd14 +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 2q32-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 +MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd14 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001019 -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612376 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch OMIM:612376 acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute promyelocytic +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 +MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 +MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3150191 MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iq -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3150191 -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612387 MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612388 MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612389 MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612390 -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612394 -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysyl hydroxylase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612394 MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lh3 deficiency +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 MONDO:0012893 osteoarthritis susceptibility 5 skos:closeMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip MONDO:0012894 osteoarthritis susceptibility 6 skos:closeMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee -MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612406 MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt17 type -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015523 +MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612406 +MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012897 congenital factor XI deficiency skos:closeMatch NCIT:C131739 Factor XI Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xi deficiency MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f11 deficiency -MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 -MONDO:0012897 congenital factor XI deficiency skos:closeMatch NCIT:C131739 Factor XI Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xi deficiency +MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015523 MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612417 MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612422 -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NCIT:C99022 Prekallikrein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkk deficiency -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fletcher factor deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prekallikrein deficiency -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fletcher factor deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkk deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NCIT:C99022 Prekallikrein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612433 MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612437 -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612438 -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, arachnodactyly, and blindness MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scoliosis, arachnodactyly, and blindness +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, arachnodactyly, and blindness MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676234 MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612445 +MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency, subtotal +MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612446 MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 6 deficiency, subtotal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency -MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency, subtotal MONDO:0012910 age-related hearing impairment 1 skos:closeMatch OMIM:612448 age-related hearing impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612462 -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albright hereditary osteodystrophy without multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albright hereditary osteodystrophy with multiple hormone resistance MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albright hereditary osteodystrophy without multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albright hereditary osteodystrophy with multiple hormone resistance +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albright hereditary osteodystrophy without multiple hormone resistance MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym albright hereditary osteodystrophy with multiple hormone resistance -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr syndrome with obesity MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13-p12 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612469 -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro syndrome MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagro syndrome +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro syndrome MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612474 -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612469 +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr syndrome with obesity MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612474 MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612475 MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675891 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675875 @@ -22317,66 +22069,51 @@ MONDO:0012919 type 1 diabetes mellitus 20 skos:closeMatch OMIM:612520 iia 1 diab MONDO:0012920 type 1 diabetes mellitus 21 skos:closeMatch OMIM:612521 iia 1 diabetes mellitus 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012921 type 1 diabetes mellitus 22 skos:closeMatch OMIM:612522 iia 1 diabetes mellitus 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612526 -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 5 semapv:RegularExpressionReplacement +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia2 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia2 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia2 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 +MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 +MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 +MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lethal myopathy, compton-north type -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 congenital myopathy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, compton-north -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675526 -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 +MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 +MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lethal myopathy, compton-north type +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, leukopenia, and atrial septal defect MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675526 +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612551 -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 -MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612557 MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls3 -MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls4 +MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612557 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612558 -MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612559 +MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls4 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls5 -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612559 MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 6 semapv:RegularExpressionReplacement -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012942 lung cancer susceptibility 3 skos:closeMatch OMIM:612571 lung cancer susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lung, susceptibility to MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612572 MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch OMIM:612572 retinitis pigmentosa 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, autosomal recessive, idh3b-related @@ -22384,20 +22121,20 @@ MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatc MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612577 -MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612580 -MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612581 +MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612581 MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675486 MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612582 +MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 +MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:closeMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 14q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:closeMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 16q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 @@ -22405,197 +22142,197 @@ MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet: MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 19q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:closeMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 20p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612621 +MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0012961 type 1 diabetes mellitus 23 skos:closeMatch OMIM:612622 iia 1 diabetes mellitus 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612626 +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 -MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612626 MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675459 +MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612631 -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675459 MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenylate kinase deficiency, hemolytic anemia due to -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 +MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:closeMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012972 febrile seizures, familial, 10 skos:closeMatch OMIM:612637 febrile seizures, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612643 -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612645 -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612649 +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612649 MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612650 -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612651 MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endocrine-cerebroosteodysplasia MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine-cerebroosteodysplasia -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch OMIM:612653 spherocytosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612651 MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612656 +MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch OMIM:612653 spherocytosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 +MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612656 MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612657 -MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract -MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612690 +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 +MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract +MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch OMIM:612690 spherocytosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612690 +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral temporooccipital MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral temporooccipital -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 +MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79b defect -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612703 -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 +MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 MONDO:0012991 Kahrizi syndrome skos:closeMatch OMIM:612713 kahrizi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, cataract, coloboma, and kyphosis, autosomal recessive -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612715 +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive, due to sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268468 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612716 -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive, due to sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, due to sepiapterin reductase deficiency -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675179 MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612718 -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome +MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675179 MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795969 MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301068 -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612736 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doss porphyria -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen synthase deficiency MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alad deficiency MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen synthase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lead poisoning, susceptibility to MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute hepatic +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, alad +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doss porphyria MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lead poisoning, susceptibility to MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612775 -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia with situs inversus +MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia with situs inversus MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia, isolated MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612776 -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia with situs inversus -MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sesames -MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, ataxia, sensorineural deafness, and tubulopathy +MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia with situs inversus MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612780 MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748572 -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 +MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, ataxia, sensorineural deafness, and tubulopathy +MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sesames MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dwarfism of sindh +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency -MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612789 MONDO:0013011 atrial septal defect 5 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612794 +MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auricular cleft, congenital MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label question mark ears, isolated MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears, isolated MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cosman deformity of the auricle -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auricular cleft, congenital MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ears, prominent and constricted MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612798 MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612813 MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748544 -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 -MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement +MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific +MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym integrin activation deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612841 MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, autosomal dominant @@ -22604,621 +22341,605 @@ MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant sko MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612851 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomyelitis, sterile multifocal, with periostitis and pustulosis MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748507 -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1 receptor antagonist deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, sterile multifocal, with periostitis and pustulosis -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1 receptor antagonist deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cteph, dvt-negative, susceptibility to -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 +MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cteph, dvt-negative, susceptibility to MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612863 MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch NCIT:C36470 del(6q25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(6q25) -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, subepithelial mucinous -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, subepithelial mucinous -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748503 MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior amorphous -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748503 +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, subepithelial mucinous +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, subepithelial mucinous MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q21.33 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612868 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior amorphous MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612868 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 -MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612877 +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, associated with chromosome type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612900 MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabrielli syndrome -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612913 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with skeletal anomalies -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752047 MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612916 MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch OMIM:612916 zechi-ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym occipital atretic cephalocele, unusual facies, and large feet MONDO:0013037 Giacheti syndrome skos:closeMatch OMIM:612917 giacheti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus and specific language and learning disabilities -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipomatous overgrowth, vascular malformations, and epidermal nevi +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612918 -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, and epidermal nevi MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, and epidermal nevi +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipomatous overgrowth, vascular malformations, and epidermal nevi MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612921 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752027 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase-beta deficiency -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd11 -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd11 +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752007 +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612937 +MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752007 MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg io MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg1(dpm3) -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, developmental delay, and facial dysmorphism -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, developmental delay, and facial dysmorphism MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features +MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, developmental delay, and facial dysmorphism +MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, developmental delay, and facial dysmorphism MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751987 MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612940 +MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612943 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751878 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612946 -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, global cerebral MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartate-glutamate carrier type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly +MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, cystic, without megalencephaly -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751843 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612952 -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, adult-onset -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751842 +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, adult-onset MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612953 -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612956 MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof7 MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal insufficiency, nr5a1-related -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, nr5a1-related +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, nr5a1-related MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, nr5a1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, with or without adrenal failure -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013068 age-related hearing impairment 2 skos:closeMatch OMIM:612976 age-related hearing impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 MONDO:0013070 spermatogenic failure 7 skos:closeMatch OMIM:612997 spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male infertility, nonsyndromic, autosomal recessive MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612997 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4 with variable features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, focal nonepidermolytic palmoplantar -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkfne +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal nonepidermolytic palmoplantar keratoderma +MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkfne +MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, focal nonepidermolytic palmoplantar MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613000 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406612 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406612 +MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013077 Santos syndrome skos:closeMatch OMIM:613005 santos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome MONDO:0013078 type 1 diabetes mellitus 24 skos:closeMatch OMIM:613006 iia 1 diabetes mellitus 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613011 -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroblastoma with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613014 MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613015 MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613016 MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613017 +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613021 MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613024 -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751651 -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 +MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751651 MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751643 +MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc MONDO:0013091 glycogen storage disease IXc skos:closeMatch OMIM:613027 glycogen storage disease ixc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ixc -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c MONDO:0013092 glioma susceptibility 2 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613028 -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 +MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 MONDO:0013094 glioma susceptibility 5 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613030 MONDO:0013095 glioma susceptibility 6 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613031 MONDO:0013096 glioma susceptibility 7 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613032 MONDO:0013097 glioma susceptibility 8 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613033 -MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, noise-induced, susceptibility to MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to +MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, noise-induced, susceptibility to MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined pituitary hormone deficiencies, genetic forms MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613055 -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp5, susceptibility to +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefs+5, susceptibility to -MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, t-cell acute lymphoblastic, susceptibility to -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to +MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, b-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, t-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all1 MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration due to cerebral folate transport deficiency MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613068 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration due to cerebral folate transport deficiency -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration due to cerebral folate transport deficiency MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613073 -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613074 -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement +MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613074 MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tall forehead, sparse hair, skin hyperextensibility, and scoliosis -MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, alopecia, cutis laxa, and scoliosis +MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751321 MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613075 +MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, alopecia, cutis laxa, and scoliosis +MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tall forehead, sparse hair, skin hyperextensibility, and scoliosis +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex deficiency, combined +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with cataract and combined respiratory chain deficiency MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613076 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751320 -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with cataract and combined respiratory chain deficiency -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex deficiency, combined MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613077 -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and spontaneous chromosome instability without immunodeficiency +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, complete, cbx2-related -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, cbx2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613080 MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, cbx2-related +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613080 MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613085 MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613086 MONDO:0013123 atrial septal defect 6 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613087 MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:closeMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvop2 -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lopez-gutierrez syndrome +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clapo +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lopez-gutierrez syndrome MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613089 -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432197 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset hyperuricemia, anemia, and progressive kidney failure MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613092 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ren-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013129 cone dystrophy 4 skos:closeMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset hyperuricemia, anemia, and progressive kidney failure MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 +MONDO:0013129 cone dystrophy 4 skos:closeMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 MONDO:0013129 cone dystrophy 4 skos:closeMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613094 -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613095 -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 +MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613096 -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613099 MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613101 -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis and recurrent skin vesicles -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis and recurrent skin vesicles MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613102 -MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613105 +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis and recurrent skin vesicles +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis and recurrent skin vesicles MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, progressive +MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613105 MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613108 MONDO:0013140 candidiasis, familial, 4 skos:closeMatch OMIM:613108 candidiasis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613115 +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to histidine-rich glycoprotein deficiency -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to elevated histidine-rich glycoprotein MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to histidine-rich glycoprotein deficiency -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to elevated histidine-rich glycoprotein MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613118 MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch NCIT:C98815 Antithrombin III Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antithrombin iii deficiency MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613119 -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 MONDO:0013146 Brugada syndrome 7 skos:closeMatch OMIM:613120 brugada syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 +MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613122 +MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613123 +MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, with or without drusen MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613144 -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 +MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 +MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomgnt1-related +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fktn-related MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, fkrp-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 +MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 +MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, fkrp-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, large-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt1-related -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb1 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt2-related +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb1 +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt1-related MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt2-related MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613157 +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613157 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2o MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2n MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613158 -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 +MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613161 -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ureidopropionase deficiency -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ureidopropionase deficiency MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342708 -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba-transaminase deficiency -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613163 +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba-transaminase deficiency MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaba-transaminase deficiency -MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613174 MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750805 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613177 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750804 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch OMIM:613177 cutis laxa, autosomal recessive, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268125 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613179 +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268125 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nucleoside phosphorylase deficiency MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750798 +MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt13 -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613194 MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch OMIM:613194 retinitis pigmentosa 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, concentric MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613195 -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to integrin alpha-7 deficiency +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613204 -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to integrin alpha-7 deficiency -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, lmna-related -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, lmna-related MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613205 MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, lmna-related +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, lmna-related MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhinoconjunctivitis, susceptibility to MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia3 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia3 +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia3 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613215 +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750748 +MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613215 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613216 -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal epithelial cell dysplasia -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, congenital tufting -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613217 +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch NCIT:C183530 Diarrhea 5, with Tufting Enteropathy, Congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, congenital tufting +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal epithelial cell dysplasia +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch NCIT:C183530 Diarrhea 5, with Tufting Enteropathy, Congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613217 MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613223 MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, protection against -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613224 MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613225 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq3 MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq3 +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613235 -MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613239 -MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613244 MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:613254 tuberous sclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 angiomyolipomas, renal, modifier of +MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613254 +MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:613254 tuberous sclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 angiomyolipomas, renal, modifier of MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613265 MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613266 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 locus MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd3 locus -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613269 -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613270 +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd4 locus -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613270 MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613271 +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd4 locus +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia, polycythemia, and cirrhosis +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch NCIT:C84444 Nonalcoholic Fatty Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonalcoholic fatty liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver disorder, alcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, nonalcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch NCIT:C84444 Nonalcoholic Fatty Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonalcoholic fatty liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613286 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613287 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750090 +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613307 -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613310 MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613312 MONDO:0013220 hemochromatosis type 2B skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613313 MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613318 MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613318 MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613319 -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750076 MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spondylometaphyseal dysplasia, mégarbané type +MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750076 MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750075 -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spondylometaphyseal dysplasia, mégarbané type +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613327 -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613328 MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613328 MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman-chitayat syndrome +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613329 MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613329 MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis due to pai1 deficiency MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750066 MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613330 MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe, lrat-related -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, lrat-related MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 +MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe, lrat-related MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, lrat-related MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613342 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjd MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613343 -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjd MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613345 MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613347 MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca2 @@ -23226,259 +22947,254 @@ MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1 MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca3 MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:closeMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal tunnel syndrome, susceptibility to MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613355 -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613364 +MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 41, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013240 maturity-onset diabetes of the young type 10 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613370 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936793 -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613371 -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613375 MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613376 MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch OMIM:613376 neuronopathy, distal hereditary motor, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013244 brachydactyly type E2 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613382 -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, with facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613385 MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613388 +MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group o +MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613390 MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch NCIT:C176910 Fanconi Anemia, Complementation Group O semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 fanconi anemia, complementation group o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group o -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a, with vestibular dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a, with vestibular dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613391 -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613392 +MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013251 Birbeck granule deficiency skos:closeMatch OMIM:613393 birbeck granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birbeck granules, absence of MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613398 -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warsaw breakage syndrome -MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome -MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warsaw breakage syndrome +MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 +MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613402 MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613404 -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witteveen-kolk syndrome MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613407 MONDO:0013258 autism, susceptibility to, 16 skos:closeMatch OMIM:613410 autism, susceptibility to, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism with or without seizures MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613411 +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613428 MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613435 -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q14.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q14.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body mass index quantitative trait locus type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body mass index quantitative trait locus type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613453 MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613453 MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613454 -MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome, congenital variant -MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rett syndrome, congenital variant -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613457 MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613458 MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613464 MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613470 -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748397 -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013276 Reynolds syndrome skos:closeMatch OMIM:613471 reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary biliary cirrhosis, scleroderma, raynaud disorder, and telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 +MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748397 MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613477 MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613480 MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 +MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iij MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613489 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 +MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iij MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd19 defect -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to baffr defect MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 +MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to baffr defect MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd20 defect -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613496 +MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd81 defect +MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613496 MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 +MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79a defect MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79a defect -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 +MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to blnk defect -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to lrrc8a defect -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder with severe cardiomyopathy due to glycogenin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613507 -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenin deficiency -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenin deficiency +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613509 -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior nonsyndromic +MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior nonsyndromic MONDO:0013294 dermatitis, atopic, 8 skos:closeMatch OMIM:613518 dermatitis, atopic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, severity of MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613523 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:closeMatch Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613530 MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613533 MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:closeMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 6q13-q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral cleft, isolated -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym commissural cleft, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrostomia, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrostomia, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transverse cleft, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral cleft, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym commissural cleft, isolated MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613545 -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrostomia, isolated MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613546 -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 MONDO:0013301 aromatase deficiency skos:closeMatch OMIM:613546 aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, due to placental aromatase deficiency +MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613550 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 9q21.11 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613559 +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 9q21.11 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613559 MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613561 +MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 +MONDO:0013308 CBL-related disorder skos:closeMatch NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbl mutation-associated syndrome -MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia -MONDO:0013308 CBL-related disorder skos:closeMatch NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to por deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613575 MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613576 MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613581 MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613582 +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:613587 occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omd MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613587 MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omd MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613600 MONDO:0013318 early repolarization associated with ventricular fibrillation skos:closeMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early repolarization syndrome MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613604 -MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym forsythe-wakeling syndrome +MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label forsythe-wakeling syndrome -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613608 MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 @@ -23487,43 +23203,43 @@ MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioect MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia and lymphedema MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia and lymphedema MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613611 -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613612 MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch OMIM:613612 congenital disorder of glycosylation, iia iii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iii -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613612 MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613615 -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 +MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 +MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613617 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613625 -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome +MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613630 -MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst reactivity, absence of MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst1 +MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst reactivity, absence of MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 19p13.13 microdeletion syndrome MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613638 MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13.13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate b +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate b MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613641 -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613642 MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613642 MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613643 +MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613646 +MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria, transient, due to transcobalamin receptor defect MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, transient, due to transcobalamin receptor defect -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613646 MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613647 @@ -23533,119 +23249,113 @@ MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMa MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613657 +MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch OMIM:613660 cone-rod dystrophy 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch OMIM:613660 cone-rod dystrophy 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613661 +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, polg-related MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, postnatal progressive, with seizures and brain atrophy MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, postnatal progressive, with seizures and brain atrophy +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, postnatal progressive, with seizures and brain atrophy MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613670 MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with language impairment and with or without autistic features -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrams -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, anterior maxillary protrusion, and strabismus +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613670 MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613671 -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 semapv:RegularExpressionReplacement -MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, anterior maxillary protrusion, and strabismus +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrams MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome +MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613672 +MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome +MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 semapv:RegularExpressionReplacement MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613674 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microduplication syndrome MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microduplication syndrome +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613676 MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613677 -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch OMIM:613677 hyperaldosteronism, familial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch NCIT:C127163 Familial Hyperaldosteronism Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 3 +MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch OMIM:613677 hyperaldosteronism, familial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613678 -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin deficiency, congenital -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin deficiency, congenital MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020640 -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613679 -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beaulieu-boycott-innes syndrome +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin deficiency, congenital +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin deficiency, congenital +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613680 MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613680 -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613681 +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beaulieu-boycott-innes syndrome MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, type 2q31.1 duplication-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 +MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613681 +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613685 +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613685 MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613689 MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 6, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 -MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613694 +MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 5, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 5 semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 5, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 -MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613697 -MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613697 +MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613702 MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613703 -MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613704 MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613704 MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613705 -MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement -MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613706 MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613707 MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613708 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal necrosis, bilateral, and progressive polyneuropathy -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613711 MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613712 -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613718 @@ -23654,34 +23364,36 @@ MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orp MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch NCIT:C172096 Developmental and Epileptic Encephalopathy 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613723 MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2q -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 +MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613723 MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with dystonia and motor neuropathy MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with dystonia and motor neuropathy -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613729 MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 7q11.23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613730 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhagic destruction of the brain, subependymal calcification, and cataracts MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic destruction of the brain, subependymal calcification, and cataracts -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch OMIM:613731 retinitis pigmentosa 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, rhodopsin-related MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations with or without urinary tract defects +MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch OMIM:613731 retinitis pigmentosa 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, rhodopsin-related MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain malformations with or without urinary tract defects +MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations with or without urinary tract defects +MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613743 MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613743 +MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613744 MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613744 MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613750 MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613751 MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613752 @@ -23689,272 +23401,266 @@ MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydro MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613756 -MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613758 -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fadd deficiency +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613759 -MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, map3k1-related +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, map3k1-related -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, map3k1-related -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital lamellar -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital lamellar MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613767 MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613769 -MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3 deficiency, autosomal recessive -MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d -MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d +MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613779 MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:120700 C3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 +MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial, with or without aortic aneurysm +MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613783 MONDO:0013419 complement component C1s deficiency skos:closeMatch OMIM:613783 complement component c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1s deficiency MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 8b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8b deficiency MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 beta deficiency +MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8b deficiency +MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 8b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613789 -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613790 -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8ag deficiency MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 alpha-gamma deficiency -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masp2 deficiency +MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8ag deficiency +MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613790 MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label masp2 deficiency -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masp2 deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal monosomy 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613792 MONDO:0013424 3p- syndrome skos:closeMatch NCIT:C41377 del(3p25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(3p25) MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613794 +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysms-osteoarthritis syndrome MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 3 +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome with osteoarthritis -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysms-osteoarthritis syndrome MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31b, mycobacterial and viral infections, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal recessive MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613801 +MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613804 MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613805 -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholangitis, primary sclerosing MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholangitis, primary sclerosing +MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613806 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholangitis, primary sclerosing -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 -MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 14 semapv:RegularExpressionReplacement +MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 -MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613809 MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613810 -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613811 MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellocerebral atrophy, progressive +MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613811 MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151147 MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151147 MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613818 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2p +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613818 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613819 MONDO:0013442 nephronophthisis 12 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613820 MONDO:0013442 nephronophthisis 12 skos:closeMatch OMIM:613820 nephronophthisis 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613823 MONDO:0013444 nephronophthisis 9 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613824 -MONDO:0013445 complement component 9 deficiency skos:closeMatch OMIM:613825 complement component 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c9 deficiency MONDO:0013445 complement component 9 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613825 +MONDO:0013445 complement component 9 deficiency skos:closeMatch OMIM:613825 complement component 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c9 deficiency MONDO:0013446 Leber congenital amaurosis 6 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613826 MONDO:0013447 retinitis pigmentosa 48 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613827 MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613828 MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613829 -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613830 MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch OMIM:613834 multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613834 +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch OMIM:613834 multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613835 MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613837 -MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia due to dihydrofolate reductase deficiency +MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613839 MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megaloblastic anemia due to dihydrofolate reductase deficiency +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia due to dihydrofolate reductase deficiency MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch OMIM:613843 leber congenital amaurosis 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, tulp1-related MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613843 +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613845 MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 +MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 MONDO:0013461 inosine triphosphatase deficiency skos:closeMatch OMIM:613850 inosine triphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inosine triphosphate pyrophosphohydrolase deficiency MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613854 MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch OMIM:613854 congenital heart defects, multiple types, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transposition of the great arteries, dextro-looped type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613855 MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866039 MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613856 -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcn3 deficiency MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613860 MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613860 +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcn3 deficiency MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613861 MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch OMIM:613862 retinitis pigmentosa 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod-cone dystrophy, childhood-onset MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613862 MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613863 MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613869 MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm, fatal infantile hypertonic, alpha-b crystallin-related -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613877 MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with plin1 mutations +MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613877 +MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 -MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613884 MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 13q14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613885 MONDO:0013484 cataract 36 skos:closeMatch OMIM:613887 cataract 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613908 -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613909 -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement +MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor d deficiency -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor d deficiency +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613909 MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor d deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613912 +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor d deficiency +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor d deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 -MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis -MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, associated with c3 nephritic factor -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis +MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613916 +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613925 -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2b MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc1 deficiency -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acaca deficiency -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa carboxylase deficiency MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa carboxylase deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa carboxylase deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acaca deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc1 deficiency +MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, late-onset MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613943 MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, late-onset MONDO:0013497 Okt4 epitope deficiency skos:closeMatch OMIM:613949 okt4 epitope deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t4 epitope deficiency -MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q13-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 15 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q13-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group p MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group p MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613951 -MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive +MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:613953 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 +MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 +MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613956 MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613957 -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 -MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, total MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, complete -MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, total +MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 +MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 7q36.3-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013506 schizophrenia 16 skos:closeMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613960 +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613970 MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 6, with or without seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613972 MONDO:0013511 cyanosis, transient neonatal skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613977 -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613978 +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch NCIT:C95504 Hemoglobin H Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613980 MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613981 MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 @@ -23962,77 +23668,65 @@ MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Ost MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613983 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-thalassemia MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-thalassemia +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613986 -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613987 -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613988 -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 2 semapv:RegularExpressionReplacement -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset, with osteolysis +MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614008 -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 +MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset, with osteolysis MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 +MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614018 MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614018 -MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 MONDO:0013527 lissencephaly 4 skos:closeMatch OMIM:614019 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 +MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt14 -MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614021 +MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614022 MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614023 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic lipase deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipc deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia due to hepatic triacylglycerol lipase deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic lipase deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic lipase deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614025 MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic lipase deficiency MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614028 MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:closeMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxalase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614034 -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614035 -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement +MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement +MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614035 MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614037 MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279662 MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, primary, with myelodysplasia MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, primary, with myelodysplasia MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614038 -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614042 MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614049 @@ -24041,159 +23735,152 @@ MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 s MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614052 MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614053 +MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa acetyltransferase-2 deficiency +MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa acetyltransferase-2 deficiency MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2 deficiency MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:100678 ACAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetocoenzyme a acetyltransferase type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa acetyltransferase-2 deficiency -MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa acetyltransferase-2 deficiency -MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naa deficiency MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoacetylaspartia -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams distal myopathy +MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naa deficiency MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614066 +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams distal myopathy MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 47, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 47, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614066 MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614067 +MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614069 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 +MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 +MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 +MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 +MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 +MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614079 -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahaptoglobinemia -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch NCIT:C125708 Fanconi Anemia, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614082 MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group g -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614083 +MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614083 MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614090 -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic mitochondrial, fatal infantile +MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic mitochondrial, fatal infantile MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614097 MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268419 +MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614097 MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keppen-lubinsky syndrome -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 +MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis laxa, neonatal, with marfanoid phenotype +MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, neonatal, with marfanoid phenotype MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614100 MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432335 -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, neonatal, with marfanoid phenotype -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis laxa, neonatal, with marfanoid phenotype -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin kappa light chain deficiency +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kappa chain deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin kappa light chain deficiency +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin kappa light chain deficiency MONDO:0013577 Lipedema skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614104 +MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614105 MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279840 -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279841 MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-beta deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 -MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279841 MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614113 -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614114 +MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614114 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical malformations, occipital MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614115 MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical malformations, occipital MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614116 -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with hearing loss and dementia +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614120 +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279904 -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614129 MONDO:0013588 Perrault syndrome 3 skos:closeMatch OMIM:614129 perrault syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 81, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 +MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614135 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onycholysis, isolated -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onycholysis, isolated MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614152 MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NCIT:C148316 Spinocerebellar Ataxia Type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614153 +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614156 +MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thromboxane synthetase deficiency -MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle hypertrophy MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle hypertrophy -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement -MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delayed sleep phase disorder, susceptibility to MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label delayed sleep phase disorder, susceptibility to +MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement +MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione peroxidase deficiency MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione peroxidase deficiency MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614165 @@ -24201,76 +23888,76 @@ MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle c MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch NCIT:C126349 GATA2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gata2 deficiency MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch NCIT:C126349 GATA2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gata2 deficiency +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614173 MONDO:0013609 Meckel syndrome, type 10 skos:closeMatch OMIM:614175 meckel syndrome, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614180 MONDO:0013611 retinitis pigmentosa 62 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614181 +MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614185 -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch OMIM:614185 geleophysic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614186 MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614187 -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, preauricular sinus, punctal pits, and deafness MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertelorism, preauricular sinus, punctal pits, and deafness +MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, preauricular sinus, punctal pits, and deafness MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis-dental anomalies MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614188 -MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad3 +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614196 +MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, acetazolamide-responsive MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, acetazolamide-responsive -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to integrin alpha2-beta1 deficiency MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gp type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614203 +MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 MONDO:0013626 psoriasis 14, pustular skos:closeMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pustular psoriasis MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614205 -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 -MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614209 +MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614211 MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OMIM:614211 deafness, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614211 MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614212 MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614213 MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614219 MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614222 -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614223 MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arterial macroaneurysm with supravalvular pulmonic stenosis MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arterial macroaneurysm with supravalvular pulmonic stenosis @@ -24282,31 +23969,31 @@ MONDO:0013642 holoprosencephaly 11 skos:closeMatch Orphanet:2162 Holoprosencepha MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614228 -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614229 MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614230 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614233 -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614233 +MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614237 MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614238 -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt18 +MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614250 MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614251 MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614254 -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant +MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch NCIT:C133742 Mental Retardation, Autosomal Dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614255 MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614256 @@ -24314,72 +24001,69 @@ MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch OMI MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614257 MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614261 -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614265 MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 -MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of esophagus -MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barrett metaplasia +MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614265 MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 +MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barrett metaplasia +MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of esophagus +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to deficiency of testicular type 17,20-desmolase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614279 -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614280 MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 +MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614290 MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795868 -MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614291 MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614292 -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram-like syndrome, autosomal dominant -MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram-like syndrome, autosomal dominant MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, progressive, with optic atrophy and/or impaired glucose regulation MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280358 +MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram-like syndrome, autosomal dominant MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial membrane protein-associated neurodegeneration MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614298 -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration with brain iron accumulation type 4 semapv:RegularExpressionReplacement MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614299 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus with cataract -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280392 MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614303 MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614305 -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614307 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280428 +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614307 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amacr deficiency MONDO:0013682 vesicoureteral reflux 4 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614317 MONDO:0013683 vesicoureteral reflux 5 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614318 MONDO:0013684 vesicoureteral reflux 6 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614319 MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614320 MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614321 -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with mental retardation and epilepsy +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614322 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, progressive cribriform and zosteriform MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevoid hypermelanosis, linear and whorled -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevoid hypermelanosis, linear and whorled +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614324 MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with short stature and microcephaly MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -24390,64 +24074,64 @@ MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold sy MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614327 MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch NCIT:C172639 BAP1 Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bap1 tumor predisposition syndrome MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614328 -MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614331 MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614333 MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614335 MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614337 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic colipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, deficiency of -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colipase, congenital absence of pancreatic MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic lipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, deficiency of +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic colipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic lipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614340 MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt27 -MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614341 MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614341 MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614342 -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 +MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614344 -MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 +MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614350 MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614369 MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy, myopathy, hoarseness, and hearing loss MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral neuropathy, myopathy, hoarseness, and hearing loss +MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 +MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2rb deficiency MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2rb deficiency MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2rb deficiency -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, protection against -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue hemorrhagic fever, susceptibility to -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, susceptibility to +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, protection against +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue hemorrhagic fever, susceptibility to +MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl2 deficiency MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl deficiency -MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbp deficiency MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614373 -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614375 MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614376 MONDO:0013718 nephronophthisis 13 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614377 @@ -24457,323 +24141,311 @@ MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 com MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4b deficiency MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614379 MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4a deficiency +MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614380 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859301 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859301 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with endosteal sclerosis MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013723 bacteremia, susceptibility to, 1 skos:closeMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bacteremia, resistance to MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614385 MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614388 -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abortion, spontaneous, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl +MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal loss, recurrent, susceptibility to -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miscarriage, recurrent MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonic loss, recurrent +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miscarriage, recurrent +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpl -MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, resistance to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abortion, spontaneous, recurrent +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018651 +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018651 -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset +MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, resistance to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614399 -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zaki-gleeson syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614409 -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zaki-gleeson syndrome MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614409 MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614414 MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614415 +MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiohumeral fusions with other skeletal and craniofacial anomalies MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiohumeral fusions with other skeletal and craniofacial anomalies MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614416 -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiohumeral fusions with other skeletal and craniofacial anomalies -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614417 MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614417 MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 +MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013744 cataract 37 skos:closeMatch OMIM:614422 cataract 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 +MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013750 atrial septal defect 8 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614433 MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614435 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837805 +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 +MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614441 -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614455 +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma and renal cell carcinoma, susceptibility to MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic quadriplegia, and mental retardation MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isqmr -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614458 -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase lipoic acid synthetase deficiency -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, lactic acidosis, and seizures MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycinemia, lactic acidosis, and seizures -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, lactic acidosis, and seizures +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase lipoic acid synthetase deficiency +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614468 +MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614468 MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency and immune dysregulation, plcg2-associated MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614470 MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614473 MONDO:0013769 atrioventricular septal defect 5 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614474 MONDO:0013770 atrial septal defect 9 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614475 -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614480 MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertriglyceridemia, transient infantile MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertriglyceridemia, transient infantile +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614480 MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, hearing loss, and neurodegeneration -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, hearing loss, and neurodegeneration MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614482 +MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, hearing loss, and neurodegeneration MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 -MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic +MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic +MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to thrombomodulin defect +MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280976 -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to thrombomodulin defect MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614487 MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840390 +MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840391 +MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614493 -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wiskott-aldrich syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wipf1 deficiency MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614494 MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension +MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614497 MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rigidity and multifocal seizure syndrome, lethal neonatal -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614498 MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rigidity and multifocal seizure syndrome, lethal neonatal -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt34 +MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614498 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 34, with variant lissencephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch NCIT:C153179 Mental Retardation, Autosomal Recessive 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal recessive type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt34 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 +MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch NCIT:C153179 Mental Retardation, Autosomal Recessive 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal recessive type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 -MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 +MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement +MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 +MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614507 MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614508 MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein s deficiency, autosomal recessive -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein s deficiency, autosomal recessive +MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhage, intracerebral, susceptibility to -MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stroke, hemorrhagic, susceptibility to MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhage, intracerebral, susceptibility to MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ich -MONDO:0013794 thrombocythemia 3 skos:closeMatch OMIM:614521 thrombocythemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 +MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stroke, hemorrhagic, susceptibility to MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 +MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 +MONDO:0013794 thrombocythemia 3 skos:closeMatch OMIM:614521 thrombocythemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614524 MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614526 MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614527 MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614557 -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614558 MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch NCIT:C188139 Developmental and Epileptic Encephalopathy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614558 MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614559 MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614561 MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome -MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614563 MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch OMIM:614563 intellectual developmental disorder, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, cutaneous, and cancer syndrome, familial -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614564 +MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614563 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous telangiectasia and cancer syndrome, familial -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous telangiectasia and cancer syndrome, familial +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, cutaneous, and cancer syndrome, familial +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614564 +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614565 -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614569 +MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614576 MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch OMIM:614576 congenital disorder of glycosylation, iia iil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iil +MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614582 -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch OMIM:614582 combined oxidative phosphorylation deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614583 -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt21 type +MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614588 +MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt21 type +MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic nonfilarial elephantiasis, susceptibility to MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonfilarial elephantiasis of lower legs, susceptibility to -MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to MONDO:0013815 FGFR2-related bent bone dysplasia skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614595 -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614602 -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614607 +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch OMIM:614608 coffin-siris syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614609 +MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch OMIM:614608 coffin-siris syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch OMIM:614609 coffin-siris syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 +MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614609 MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 +MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614614 -MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614615 -MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614616 MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 +MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614616 MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614618 MONDO:0013828 hyperekplexia 2 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614619 -MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614621 -MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614640 -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, ispd-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614643 -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614650 +MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, ispd-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614651 +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614650 MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614651 MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614652 MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614653 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614654 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614654 MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614662 MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614665 -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614669 MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614669 +MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:closeMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcm, susceptibility to MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614671 MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614672 +MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614673 -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 -MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614678 -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 +MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013857 alar cleft, isolated skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614687 MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontine tegmental cap dysplasia -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614688 MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia +MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614688 MONDO:0013859 cataract 38 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614691 MONDO:0013859 cataract 38 skos:closeMatch OMIM:614691 cataract 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614692 MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch NCIT:C128108 Idiopathic Membranous Glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic membranous glomerulopathy +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614692 +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous nephropathy, susceptibility to MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous nephropathy, susceptibility to -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -24781,74 +24453,71 @@ MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch O MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614701 MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614702 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln11 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis type 11 semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln11 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614714 -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, dha MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, dha MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, type 2,8-dihydroxyadenine semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614727 MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch OMIM:614727 congenital disorder of glycosylation, iia iik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iik MONDO:0013871 Seckel syndrome 6 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614728 MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614731 -MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies +MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614736 +MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614736 MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614739 +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614741 +MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 +MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614744 -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nephrotic syndrome, and epidermolysis bullosa, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614751 +MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malan syndrome MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malan syndrome MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 +MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, nonprogressive, with mental retardation MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability -MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614779 -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, optic nerve atrophy, and pelger-huet anomaly MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, optic nerve atrophy, and pelger-huet anomaly MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soph +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, optic nerve atrophy, and pelger-huet anomaly MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature-optic atrophy-pelger-huët anomaly syndrome MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614800 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 @@ -24858,255 +24527,244 @@ MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch NCIT:C25255 Soft semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, onychodysplasia, facial dysmorphism, and hypotrichosis MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, onychodysplasia, facial dysmorphism, and hypotrichosis +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch NCIT:C25255 Soft semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614814 -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 +MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch OMIM:614816 loeys-dietz syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614816 +MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial nephritis, karyomegalic MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial nephritis, karyomegalic MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kin -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial nephritis, karyomegalic -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyomegalic interstitial nephritis -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614817 MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kin +MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614817 MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614819 MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614820 -MONDO:0013901 spermatogenic failure 10 skos:closeMatch OMIM:614822 spermatogenic failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure with defective sperm annulus MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614822 -MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve +MONDO:0013901 spermatogenic failure 10 skos:closeMatch OMIM:614822 spermatogenic failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure with defective sperm annulus +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614823 -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614830 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gtdc2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia4 -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia4 +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia4 MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with seizures MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, short stature, and polymicrogyria with or without seizures MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and polymicrogyria with or without seizures MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614834 -MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhv-8, susceptibility to MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 +MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614839 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614841 MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadotropin deficiency, familial idiopathic +MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614841 MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614842 MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 MONDO:0013916 nephronophthisis 14 skos:closeMatch OMIM:614844 nephronophthisis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614845 -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal tetrasomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 MONDO:0013918 distal tetrasomy 15q skos:closeMatch OMIM:614846 tetrasomy 15q26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levy-shanske syndrome MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 +MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal tetrasomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614850 MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614850 MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614852 MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch NCIT:C183526 Methylmalonic Aciduria and Homocystinuria, cblJ Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblj type MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset cervical dystonia, dyt23 type MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614860 +MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset cervical dystonia, dyt23 type MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614861 +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group c -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group c MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group f -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations +MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614868 +MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations +MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group b MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group b MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a +MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 +MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614874 -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloenchondromatosis with d-2-hydroxyglutaric aciduria MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondrodysplasia with type 2-hydroxyglutaric aciduria semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloenchondromatosis with d-2-hydroxyglutaric aciduria +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group d MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 8b semapv:RegularExpressionReplacement +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 +MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, adult, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group r MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, pex7-related, atypical -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, adult, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group r -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 +MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group g +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group g MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group h -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group h MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cg14 +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgj -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group j -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cg14 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group j +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch OMIM:614887 peroxisome biogenesis disorder 13a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group k -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 -MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12rb1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal dominant -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irf8 deficiency, autosomal dominant MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614895 MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614896 MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614897 -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614898 -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement +MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement -MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614915 -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614916 +MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm1 deficiency +MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg it MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm1 deficiency +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglucomutase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephaloneuromyopathy, infantile, due to mitochondrial translation defect +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bckdk deficiency -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain keto acid dehydrogenase kinase deficiency +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branched-chain keto acid dehydrogenase kinase deficiency +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614923 -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with thalamus and brainstem involvement and high lactate +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bckdk deficiency MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with thalamus and brainstem involvement and high lactate MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614926 @@ -25114,12 +24772,12 @@ MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69 MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614928 MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614929 MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614931 -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614934 -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614935 MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614936 @@ -25128,103 +24786,103 @@ MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614944 -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614945 -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614945 MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614946 +MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614947 MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013988 congenital heart defects, multiple types, 3 skos:closeMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614959 MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch NCIT:C188141 Developmental and Epileptic Encephalopathy 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614959 MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614961 MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614962 -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin deficiency or dysfunction MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin deficiency or dysfunction +MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin deficiency or dysfunction MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin receptor deficiency MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch NCIT:C120386 Leptin Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614963 +MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch NCIT:C120386 Leptin Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614969 MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614972 MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brauer-setleis syndrome -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 +MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614976 MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenomegaly, cytopenia, and vision loss MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614979 -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 -MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 +MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615006 MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615007 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615009 MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pacs1-related syndrome MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615010 MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615022 -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615023 -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615024 +MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615024 MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615025 MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615028 MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615030 MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615031 -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615033 -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615034 +MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615033 MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615034 MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615035 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, tmem5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615041 -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615042 +MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, tmem5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch OMIM:615042 congenital disorder of glycosylation, iia iu semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iu +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615042 MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615043 @@ -25232,151 +24890,145 @@ MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, jokela type MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615058 MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615059 -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 +MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615067 -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch OMIM:615071 alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, intellectual disability, and primordial dwarfism MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615071 +MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch OMIM:615071 alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, intellectual disability, and primordial dwarfism MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615072 -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615073 MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant focal dystonia, dyt25 type +MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615073 MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615074 MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch OMIM:615074 gand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615075 MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with spastic diplegia and visual defects +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615075 +MONDO:0014036 Alzheimer disease 17 skos:closeMatch OMIM:615080 alzheimer disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 17, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014036 Alzheimer disease 17 skos:closeMatch OMIM:615080 alzheimer disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 17, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014037 spermatogenic failure 11 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615081 -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch OMIM:615083 colorectal cancer, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 12q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia-myopathy-emaciation syndrome MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615084 +MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615085 -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement -MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615092 MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615102 MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyshchenko syndrome MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyshchenko syndrome -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615102 MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615112 MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615113 -MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615119 MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, due to agrin deficiency MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with pre- and postsynaptic defects -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, due to agrin deficiency +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014054 lymphoproliferative syndrome 2 skos:closeMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615122 -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615134 MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615139 MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fils +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, immunodeficiency, livedo, and short stature -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615139 MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615145 MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, iris coloboma, and comedogenic acne syndrome MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, iris coloboma, and comedogenic acne syndrome MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615147 MONDO:0014061 Steel syndrome skos:closeMatch OMIM:615155 steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocated hips and radial heads, carpal coalition, scoliosis, and short stature MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615155 -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615156 -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615156 MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615157 MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615158 MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615159 MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615160 -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt35 MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt35 +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615163 -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wahab syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615170 +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615179 -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3galnt2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615182 -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined d-2- and l-2-hydroxyglutaric aciduria +MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 +MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3galnt2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined d-2- and l-2-hydroxyglutaric aciduria +MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined d-2- and l-2-hydroxyglutaric aciduria +MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615182 +MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615188 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 -MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, autosomal dominant, actn1-related MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, autosomal dominant, actn1-related MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615193 MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card11 immunodeficiency +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 +MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to pik3r1 defect -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615217 -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 semapv:RegularExpressionReplacement +MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 +MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615217 MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615219 -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 +MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 +MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smc2 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smc2 +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615224 MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch OMIM:615225 palmoplantar carcinoma, multiple self-healing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615225 @@ -25389,52 +25041,52 @@ MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pig MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615234 -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615235 -MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woods syndrome MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woods syndrome +MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woods syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital short bowel syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital short bowel syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital short bowel syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch OMIM:615238 lipodystrophy, familial partial, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with cidec mutations +MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital short bowel syndrome +MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital short bowel syndrome MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615238 +MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch OMIM:615238 lipodystrophy, familial partial, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with cidec mutations MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615244 +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomk-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615249 -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 +MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomk-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615267 -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq4 +MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615271 -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group q MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group q +MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group q +MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615274 -MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615277 -MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014111 cataract 19 multiple types skos:closeMatch OMIM:615277 cataract 19, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 19, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615277 MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615278 MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615279 MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615280 MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartyl-trna synthetase deficiency -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with brainstem and spinal cord involvement and leg spasticity MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination with brainstem and spinal cord involvement and leg spasticity +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with brainstem and spinal cord involvement and leg spasticity MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25444,14 +25096,14 @@ MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:cl MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615287 MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3gnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615287 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615293 -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615294 MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615297 MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 @@ -25459,48 +25111,45 @@ MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrom MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615312 MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615327 +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shaheen syndrome -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615330 -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 +MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 +MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615343 MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615344 MONDO:0014137 precocious puberty, central, 2 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615348 MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615349 -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615350 MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gmppb-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615350 +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, gmppb-related MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2t MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615352 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related -MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615355 -MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2s +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615360 -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln13 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label estrogen resistance +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen insensitivity +MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label estrogen resistance MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen resistance MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615363 MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25508,13 +25157,13 @@ MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:close MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, lethal, autosomal recessive MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615368 -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch NCIT:C172100 Childhood-Onset Epileptic Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset epileptic encephalopathy MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, childhood-onset +MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch NCIT:C172100 Childhood-Onset Epileptic Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset epileptic encephalopathy MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch OMIM:615373 left ventricular noncompaction 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ll semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615374 MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate c MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25522,40 +25171,40 @@ MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMat MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615376 MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615377 MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615378 -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615381 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal recessive, spectrin-associated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal recessive, spectrin-associated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell receptor-alpha/beta deficiency MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcr-alpha/beta deficiency MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615387 MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell receptor-alpha/beta deficiency MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615390 MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615395 -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch OMIM:615396 left ventricular noncompaction 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1mm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 +MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615397 MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615398 MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615399 +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615400 -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615401 MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615402 MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25569,178 +25218,174 @@ MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), a MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch NCIT:C129977 Mitochondrial DNA Depletion Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 12 semapv:RegularExpressionReplacement MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615422 -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615424 +MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615425 MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615426 -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615431 +MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615434 MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615436 MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615441 MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615453 -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, myopic chorioretinal atrophy, and telecanthus -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615458 -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hartsfield syndrome +MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus +MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, myopic chorioretinal atrophy, and telecanthus MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845146 -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hartsfield syndrome +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial dna depletion syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615471 MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615474 +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615474 MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615476 -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615481 MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615482 MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615483 -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615486 -MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of +MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615490 -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with optic atrophy, childhood-onset +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt37 MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615500 -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group c MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group c -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615502 MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615502 MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615503 +MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 +MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615505 +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615506 -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe dermatitis, multiple allergies, and metabolic wasting syndrome MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe dermatitis, multiple allergies, and metabolic wasting syndrome -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amp deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy due to myoadenylate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy due to myoadenylate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ampd1 deficiency MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine monophosphate deaminase-1 deficiency, myopathy due to +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ampd1 deficiency MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency, myopathy due to -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860808 MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615512 -MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome +MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860808 MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency -MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 +MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label activated pi3k-delta syndrome +MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615515 -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt38 -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615517 +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 MONDO:0014225 hemochromatosis type 5 skos:closeMatch OMIM:615517 hemochromatosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron overload, autosomal dominant -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615517 +MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic cd4 lymphopenia +MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615522 -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615523 MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch OMIM:615524 microphthalmia, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615527 MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park19, formerly +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615529 +MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615530 -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropigmentatio reticularis MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kitamura reticulate acropigmentation MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulate pigmentation of kitamura +MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropigmentatio reticularis MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615537 -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615540 MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615540 MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt39 +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615542 MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 @@ -25748,77 +25393,77 @@ MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatc MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chitayat-hall syndrome MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615548 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chitayat-hall syndrome +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch NCIT:C125388 Neuropathy, Hereditary Sensory and Autonomic, Type VII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type vii +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615548 MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615551 -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch NCIT:C125390 Episodic Pain Syndrome, Familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, mental retardation, and seizures +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch NCIT:C125390 Episodic Pain Syndrome, Familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amrs -MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple fibroadenomas of the breast +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, mental retardation, and seizures +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple fibroadenomas of the breast +MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple fibroadenomas of the breast +MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615555 MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615555 -MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615557 MONDO:0014251 melioidosis, susceptibility to skos:closeMatch OMIM:615557 melioidosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melioidosis, resistance to -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia +MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615557 MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, normotriglyceridemic -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615560 -MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor b deficiency MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor b deficiency +MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor b deficiency MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615565 MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615573 MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch NCIT:C168586 Asparagine Synthetase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label asparagine synthetase deficiency MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch OMIM:615574 asparagine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asns deficiency MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615575 -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal dominant, calf-predominant +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, with central adrenal insufficiency MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615578 -MONDO:0014262 Rienhoff syndrome skos:closeMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 -MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014262 Rienhoff syndrome skos:closeMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch OMIM:615583 verheij syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014265 Alzheimer disease 18 skos:closeMatch OMIM:615590 alzheimer disease 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 18, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615595 MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615596 -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ix -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615597 MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931007 +MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615597 +MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ix MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25826,46 +25471,46 @@ MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin d MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615615 -MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 +MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive -MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive -MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chlc, susceptibility to +MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615619 +MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chlc, susceptibility to +MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615625 MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615629 MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615629 MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 +MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch OMIM:615632 neuropathy, hereditary sensory, iia 1f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 +MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch OMIM:615632 neuropathy, hereditary sensory, iia 1f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt41 +MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coasy protein-associated neurodegeneration MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615643 MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615651 -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch NCIT:C171603 Leukoencephalopathy with Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia +MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with ataxia -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615651 +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch NCIT:C171603 Leukoencephalopathy with Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615656 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3180937 MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch OMIM:615658 spastic paraplegia 57, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 57, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25874,128 +25519,128 @@ MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 A MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615663 -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 +MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615668 MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pde4d haploinsufficiency syndrome -MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 -MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615673 -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with extrapyramidal signs MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with extrapyramidal signs +MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with extrapyramidal signs MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615674 -MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615681 +MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615683 -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615686 +MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 63 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615686 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NCIT:C126347 Adenosine Deaminase 2 Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NCIT:C126347 Adenosine Deaminase 2 Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615696 MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morbid obesity and spermatogenic failure -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morbid obesity and spermatogenic failure +MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615703 +MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morbid obesity and spermatogenic failure +MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morbid obesity and spermatogenic failure +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615704 -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615705 +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615704 +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615705 MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615706 MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis with vertebral anomalies -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis with vertebral anomalies MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615709 +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis with vertebral anomalies +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis with vertebral anomalies MONDO:0014316 Alzheimer disease 19 skos:closeMatch OMIM:615711 alzheimer disease 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 19, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615715 -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 +MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 MONDO:0014322 premature ovarian failure 9 skos:closeMatch OMIM:615724 premature ovarian failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof9 MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615725 MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615726 MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615728 -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 +MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615744 MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 -MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial dilation and standstill MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, atrial dilated, with atrial standstill +MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial dilation and standstill MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615750 -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615751 MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgr -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, progressive, with seizures and cerebral and cerebellar atrophy -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615760 MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, progressive, with seizures and cerebral and cerebellar atrophy +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615760 MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615761 -MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21 deficiency +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21 deficiency +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to stub1 deficiency MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615768 -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615770 -MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615774 +MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615774 MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615777 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615780 +MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615802 MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615802 MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615803 MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615807 MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615809 @@ -26008,83 +25653,78 @@ MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatc MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615828 MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615829 -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad4 -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent adrenal cushing syndrome, somatic +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad4 MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615833 MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615834 -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615837 MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615837 MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615838 MONDO:0014365 spermatogenic failure 13 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615841 MONDO:0014366 spermatogenic failure 14 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615842 MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615846 -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615848 +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label culler-jones syndrome -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister-hall syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615851 MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615859 MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615860 -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 +MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 MONDO:0014374 nephronophthisis 18 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615862 MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615863 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615866 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615871 MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615872 -MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adnp syndrome +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helsmoortel-van der aa syndrome -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia/coloboma and skeletal dysplasia syndrome -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis type 4 semapv:RegularExpressionReplacement MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatton-brown-rahman syndrome +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615885 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia5 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia5 -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615888 -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 +MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 +MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615896 -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615905 MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615907 MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 @@ -26095,26 +25735,26 @@ MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial i MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615917 -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615918 -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pcna-related progressive neurodegenerative photosensitivity syndrome MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pcna-related progressive neurodegenerative photosensitivity syndrome MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615922 MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615923 -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, with or without lipodystrophy -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, with or without lipodystrophy MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615924 -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated partial +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, with or without lipodystrophy +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, with or without lipodystrophy MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone deficiency, isolated partial +MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated partial MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615925 +MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym webb-dattani syndrome MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label webb-dattani syndrome -MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym webb-dattani syndrome -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sting-associated vasculopathy, infantile-onset MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch NCIT:C177547 STING-Associated Vasculopathy, Infantile-Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset +MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 MONDO:0014406 pancreatic agenesis 2 skos:closeMatch OMIM:615935 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615937 @@ -26122,64 +25762,64 @@ MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt44 +MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615945 MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615948 +MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615952 MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615952 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615954 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615959 -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poretti-boltshauser syndrome -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch NCIT:C120114 Acid-Labile Subunit Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poretti-boltshauser syndrome +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acid-labile subunit deficiency +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch NCIT:C120114 Acid-Labile Subunit Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615961 -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid resistance, generalized -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid receptor deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid resistance, generalized +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid receptor deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcr deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol resistance from glucocorticoid receptor defect +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid resistance, generalized MONDO:0014421 glucocorticoid resistance skos:exactMatch NCIT:C126809 Glucocorticoid Resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucocorticoid resistance MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615962 -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol resistance from glucocorticoid receptor defect MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615963 -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 -MONDO:0014426 nanophthalmos 4 skos:closeMatch OMIM:615972 nanophthalmos 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 +MONDO:0014426 nanophthalmos 4 skos:closeMatch OMIM:615972 nanophthalmos 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615973 -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615974 +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 -MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt45 MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 +MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt45 MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch OMIM:615980 lipodystrophy, familial partial, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with lipe mutations MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615980 -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome +MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch NCIT:C118632 Bardet-Biedl Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615982 MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615983 @@ -26197,680 +25837,658 @@ MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615995 MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615996 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthyroid hyperthyroxinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014449 congenital analbuminemia skos:closeMatch NCIT:C124851 Analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 -MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analbuminemia MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia +MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analbuminemia +MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 +MONDO:0014449 congenital analbuminemia skos:closeMatch NCIT:C124851 Analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616001 MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysfibrinogenemia, congenital MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodysfibrinogenemia, congenital MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysfibrinogenemia, congenital +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysfibrinogenemia, congenital +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616006 -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616007 +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts4 with mody MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616028 +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/short stature syndrome MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/short stature syndrome -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616030 -MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616034 MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857252 -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616037 MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616039 -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616039 MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 +MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616042 -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616044 -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label isolated atp synthase deficiency MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with infantile enterocolitis +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label isolated atp synthase deficiency MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with infantile enterocolitis MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616050 +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with infantile enterocolitis MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616051 MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616052 -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616053 MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic ataxia with slurred speech +MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616053 +MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 +MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic ataxia with slurred speech MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch NCIT:C175047 Developmental and Epileptic Encephalopathy 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616056 MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616059 MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616063 -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, zfpm2-related -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, zfpm2-related +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616069 MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616078 MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616079 -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch NCIT:C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch NCIT:C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616080 -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with spinal muscular atrophy and cerebellar hypoplasia MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 +MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with spinal muscular atrophy and cerebellar hypoplasia MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616095 -MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair -MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 +MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair +MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616100 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctla4 haploinsufficiency with autoimmune infiltration MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616108 +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616111 MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616113 MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616115 +MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt46 -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 -MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 +MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isg15 deficiency, autosomal recessive MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616138 MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616139 -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616140 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 +MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger anomaly with pierre robin syndrome +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with hyperphalangy and clinodactyly +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger anomaly with pierre robin syndrome MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616151 MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616152 -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616155 -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 +MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection +MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616172 -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 MONDO:0014519 chronic mountain sickness, susceptibility to skos:closeMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monge disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014522 retinal dystrophy and obesity skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616188 MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616192 -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt47 +MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616199 -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruijs-aalfs syndrome +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruijs-aalfs syndrome +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caid MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic atrial and intestinal dysrhythmia syndrome MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616201 -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome +MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to grid2 deficiency MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to grid2 deficiency MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616208 -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, isolated mitochondrial, autosomal dominant MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, isolated mitochondrial, autosomal dominant +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, isolated mitochondrial, autosomal dominant MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616209 MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616211 MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 -MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia type 5 with increased susceptibility to malignancy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014536 thrombocytopenia 5 skos:closeMatch OMIM:616216 thrombocytopenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014536 thrombocytopenia 5 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616216 MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616217 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 -MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 +MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temple syndrome -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temple syndrome +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, without tubular aggregates +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, without tubular aggregates MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 +MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616230 MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, vacuolar, with casq1 aggregates -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, vacuolar, with casq1 aggregates MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616231 -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616239 +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, vacuolar, with casq1 aggregates +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, vacuolar, with casq1 aggregates MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616239 MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 +MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tenorio syndrome -MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenorio syndrome MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overgrowth, macrocephaly, and intellectual disability syndrome -MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenorio syndrome MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 +MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616268 -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt48 MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt48 MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616276 +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 -MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014565 cataract 43 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616279 MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616280 MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616281 -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch OMIM:616282 spastic paraplegia 73, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 73, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616282 MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616286 MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616287 MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616289 -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616291 -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch OMIM:616291 lichtenstein-knorr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616294 +MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome +MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616291 MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plack +MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616294 MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plack +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616298 +MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616299 MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616300 MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616307 MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 +MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 +MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 +MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ie, formerly -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 +MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ie, formerly +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, ie, formerly MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch NCIT:C177546 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616329 MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18, with intellectual disability and ataxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 +MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616335 MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616339 MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616340 +MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 +MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 +MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:exactMatch NCIT:C185237 Developmental and Epileptic Encephalopathy 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014599 intellectual disability, autosomal dominant 34 skos:closeMatch OMIM:616351 intellectual developmental disorder, autosomal dominant 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616354 MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616354 MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616355 MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch OMIM:616355 intellectual developmental disorder, autosomal dominant 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616355 MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616361 -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:616362 intellectual developmental disorder, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616362 +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:616362 intellectual developmental disorder, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch NCIT:C155998 Developmental and Epileptic Encephalopathy 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616366 +MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch NCIT:C155998 Developmental and Epileptic Encephalopathy 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616367 MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch OMIM:616368 chops syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616368 MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616370 +MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 +MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616389 -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 2, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 2, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616393 MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616393 MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616394 MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, complementation group a -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 3, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichothiodystrophy type 3, photosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 +MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616399 +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616402 MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616409 -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616410 -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt27 type +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 +MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt27 type MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616413 -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014631 hypomagnesemia, seizures, and intellectual disability skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homgsmr -MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616420 -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616421 +MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-atonic epilepsy MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic-atonic epilepsy -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616421 MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 +MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616428 -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616430 +MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group t MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616435 -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616436 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616439 MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616445 -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616449 -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basel-vanagaite-smirin-yosef syndrome -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616449 MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616451 -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616452 -MONDO:0014645 BENTA disease skos:closeMatch NCIT:C176791 B-Cell Expansion with NFKB and T-Cell Anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy +MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell expansion with nfkb and t-cell anergy +MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616452 +MONDO:0014645 BENTA disease skos:closeMatch NCIT:C176791 B-Cell Expansion with NFKB and T-Cell Anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616455 MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616457 -MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-raqad syndrome MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-raqad syndrome +MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-raqad syndrome MONDO:0014648 Al-Raqad syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616459 -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt50 MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt50 +MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616461 +MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616462 MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616468 MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616469 MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616479 +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondroplasia, severe, with developmental delay and acanthosis nigricans MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, severe, with developmental delay and acanthosis nigricans +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondroplasia, severe, with developmental delay and acanthosis nigricans MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616482 -MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616483 MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616486 -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616488 MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616488 MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616490 MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616491 -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616494 MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616500 MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616501 -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616502 +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616505 -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 +MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 +MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616511 -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616515 MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 +MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement +MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616515 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616517 -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616521 -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616534 MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616535 MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye brain disorder, dag1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616539 +MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616540 MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616541 MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616544 MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616546 -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616549 MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616549 +MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 9 semapv:RegularExpressionReplacement MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616559 MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616562 -MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome type 10 semapv:RegularExpressionReplacement MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616564 MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfkb1 deficiency -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, hearing loss, and mental retardation syndrome +MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616579 -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, hearing loss, and mental retardation syndrome MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement +MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616579 MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label au-kline syndrome +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616586 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616586 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616589 MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch OMIM:616592 kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616592 MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616603 -MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative neoplasms, familial, susceptibility to MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616604 -MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch NCIT:C185638 Ring Chromosome 14 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 +MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 +MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616625 MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616629 MONDO:0014713 porokeratosis 9, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616631 MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616632 -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, cortical blindness, and microcephaly syndrome MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, cortical blindness, and microcephaly syndrome +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, cortical blindness, and microcephaly syndrome MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616636 MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616638 -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616640 MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616645 MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616647 MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 8 semapv:RegularExpressionReplacement MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 8 semapv:RegularExpressionReplacement -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman syndrome MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 +MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616651 -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yuan-harel-lupski syndrome MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616652 MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yuan-harel-lupski syndrome +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616654 -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616657 -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive charcot-marie-tooth disorder type 2x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616668 +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive charcot-marie-tooth disorder type 2x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014727 immunodeficiency 45 skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616669 MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616672 MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement @@ -26881,83 +26499,82 @@ MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet: MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vps11-related autosomal recessive hypomyelinating leukodystrophy MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616683 MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616684 -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616687 -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616688 +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616687 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616689 -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos +MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616688 MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis gardos -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, congenital, unilateral or asymmetric -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616689 MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616697 +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, congenital, unilateral or asymmetric MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616705 -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement +MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10p12-p11 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616719 +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 21, with hepatopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 +MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 -MONDO:0014746 SLC39A8-CDG skos:closeMatch OMIM:616721 congenital disorder of glycosylation, iia iin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iin MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616721 +MONDO:0014746 SLC39A8-CDG skos:closeMatch OMIM:616721 congenital disorder of glycosylation, iia iin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iin MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy and iris coloboma with or without congenital cataract MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy and iris coloboma with or without congenital cataract MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616723 MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616723 MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616724 -MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616726 MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 33, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features +MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616726 MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616728 MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616730 MONDO:0014753 autosomal recessive optic atrophy skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive isolated optic atrophy MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia and mental retardation syndrome +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616737 MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia and mental retardation syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616737 MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616738 MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency due to tfrc deficiency MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616749 -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia and psychomotor retardation with or without seizures MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and psychomotor retardation with or without seizures MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616756 +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia and psychomotor retardation with or without seizures MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616760 MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 3, with hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy and acquired microcephaly with or without dystonia MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy and acquired microcephaly with or without dystonia +MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy and acquired microcephaly with or without dystonia MONDO:0014767 Seckel syndrome 9 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616777 MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616779 MONDO:0014770 Joubert syndrome 25 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616781 MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616784 MONDO:0014772 orofacial cleft 15 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616788 -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616789 MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch OMIM:616789 impaired intellectual development and distinctive facial features with or without cardiac defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and distinctive facial features with or without cardiac defects +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616789 MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616792 MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616794 MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616795 @@ -26971,28 +26588,28 @@ MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch O MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616812 MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616816 MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616817 +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-flusser syndrome -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:closeMatch Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616827 MONDO:0014789 CCDC115-CDG skos:closeMatch OMIM:616828 congenital disorder of glycosylation, iia iio semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iio MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616828 -MONDO:0014790 TMEM199-CDG skos:closeMatch OMIM:616829 congenital disorder of glycosylation, iia iip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iip MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 +MONDO:0014790 TMEM199-CDG skos:closeMatch OMIM:616829 congenital disorder of glycosylation, iia iip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iip MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616834 MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc4mol deficiency -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616835 MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616840 -MONDO:0014797 lymphatic malformation 6 skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0014797 lymphatic malformation 6 skos:closeMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou +MONDO:0014797 lymphatic malformation 6 skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0014798 brachydactyly type A1D skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616849 MONDO:0014799 cataract 45 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616851 MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616852 -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616854 MONDO:0014801 even-plus syndrome skos:closeMatch OMIM:616854 even-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations +MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616854 MONDO:0014802 Cowden syndrome 7 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616858 MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616859 MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset spasticity with hyperglycinemia @@ -27015,17 +26632,17 @@ MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Or MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616890 MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616892 MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616893 -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 +MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616897 MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616898 MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616900 MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616907 -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616910 +MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616911 @@ -27035,66 +26652,64 @@ MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMa MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616914 MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616917 MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616922 -MONDO:0014837 thrombocytopenia 6 skos:closeMatch OMIM:616937 thrombocytopenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616937 -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014837 thrombocytopenia 6 skos:closeMatch OMIM:616937 thrombocytopenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch OMIM:616938 coffin-siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616938 MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch OMIM:616941 agammaglobulinemia 8a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to tcf3 defect -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 +MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 MONDO:0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616949 MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616950 MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616954 MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616963 -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement +MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616969 MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616973 MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616974 -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 +MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616977 MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617008 MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617011 MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617013 MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar-cmt2t MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disorder type 2t semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617020 MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617021 MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617022 MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617023 MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617024 -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617025 MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus comedonicus +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus MONDO:0014873 nevus comedonicus syndrome skos:closeMatch NCIT:C3946 Nevus Comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617025 MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 -MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, primary, and hypertension MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, primary, and hypertension MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 -MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenylosuccinate synthetase-like type 1-related distal myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617030 -MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adssl1-related distal myopathy MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617035 MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 @@ -27103,10 +26718,10 @@ MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617044 MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 77 MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617046 -MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 +MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617051 @@ -27114,43 +26729,42 @@ MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome se MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617054 MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617055 MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 skos:closeMatch OMIM:617056 tubulointerstitial kidney disease, autosomal dominant, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617061 +MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014894 Meier-Gorlin syndrome 7 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617063 MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617065 MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617066 -MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617069 +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617070 -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2y MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617072 MONDO:0014901 tooth agenesis, selective, 8 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617073 MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617075 MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch OMIM:617080 seizures, benign familial infantile, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617086 -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 +MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617090 -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617091 MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 34, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617092 +MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617091 MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 35, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617092 MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617093 -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hereditary persistence of fetal hemoglobin -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 +MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617102 MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 @@ -27167,56 +26781,53 @@ MONDO:0014922 myofibrillar myopathy 7 skos:closeMatch Orphanet:496686 Kyphosis-l MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617115 MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs20 MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 +MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs20 MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617120 -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 +MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617123 MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617125 -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617127 MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617132 MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617137 -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 +MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome -MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617141 MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617142 MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617153 -MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form -MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, hepatocerebral form -MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deoxyguanosine kinase deficiency MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711385 MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617157 MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617158 MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch OMIM:617159 sifrim-hitz-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617162 MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch NCIT:C177545 Developmental and Epileptic Encephalopathy 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617162 MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617166 MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617168 MONDO:0014951 Sotos syndrome 3 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskinesia, seizures, and intellectual developmental disorder MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617171 -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch NCIT:C164154 Intellectual Developmental Disorder with Cardiac Arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617175 +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal dystrophy with or without extraocular anomalies +MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617175 MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 +MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome MONDO:0014961 spermatogenic failure 16 skos:closeMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 @@ -27224,26 +26835,26 @@ MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:closeMatch Orphanet:450 He MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617207 MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617213 MONDO:0014970 spermatogenic failure 17 skos:closeMatch OMIM:617214 spermatogenic failure 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male infertility due to oocyte activation failure -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617228 MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 -MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617243 +MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group r MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617244 MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group r -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group r -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617247 -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group u MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group u +MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group u +MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617247 MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617251 MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617252 MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617253 @@ -27261,83 +26872,83 @@ MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesit MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine +MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617301 MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617302 MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617303 MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617304 MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617306 MONDO:0015016 anterior segment dysgenesis 6 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617315 -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 +MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617336 MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617337 MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617341 -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048230 -MONDO:0015028 48,XXYY syndrome skos:closeMatch NCIT:C89801 XXYY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxyy syndrome MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 +MONDO:0015028 48,XXYY syndrome skos:closeMatch NCIT:C89801 XXYY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxyy syndrome +MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048230 MONDO:0015031 extraneural perineurioma skos:exactMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label soft tissue perineurioma MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370658 MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 1 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 1 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 2 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318551 MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021071 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862892 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema induced by ace inhibitors, susceptibility to MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema induced by ace inhibitors, susceptibility to -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 +MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema induced by ace inhibitors, susceptibility to MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029542 +MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751549 -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net +MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135090 Jejunal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135092 Ileal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of appendix MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colonic net MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the rectum MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumor MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of anal canal -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor +MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549473 MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007476 MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataracts-motor neuropathy-short stature-skeletal anomalies syndrome MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071150 MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3160906 +MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071150 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553669 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054329 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052381 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240200 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NCIT:C113814 Autoimmune Primary Adrenal Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune primary adrenal insufficiency +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271737 -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NCIT:C113814 Autoimmune Primary Adrenal Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune primary adrenal insufficiency MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined t and b cell immunodeficiency MONDO:0015134 constitutional neutropenia skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label kostmann syndrome @@ -27345,240 +26956,235 @@ MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunit MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015974 MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034533 MONDO:0015141 disorder of medulla oblongata skos:closeMatch Orphanet:102000 Medullar disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medullar disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement -MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement +MONDO:0015146 classic lissencephaly skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 3 semapv:RegularExpressionReplacement +MONDO:0015148 lissencephaly type 3 skos:exactMatch OMIM:611603 lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0015148 lissencephaly type 3 skos:exactMatch NCIT:C148461 Lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393555 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931907 -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adam complex -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constricting bands, congenital -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label constricting bands, congenital MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streeter anomaly -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constriction band syndrome -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amniotic band syndrome -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constriction rings syndrome +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constricting bands, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adam complex +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streeter dysplasia MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of arm -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ring constrictions MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051643 -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyoplasia congenita -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609129 +MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069002 +MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609129 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432226 -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036992 +MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345891 MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 +MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345891 +MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020529 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020305 -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002896 -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040661 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 +MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 +MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002896 MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064895 -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431420 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 +MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002533 -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162576 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 +MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002533 +MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162576 MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum-imperforate anus syndrome MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061060 MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956147 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 +MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752166 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056715 -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752166 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004775 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 +MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004775 MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931593 MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931398 MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arrhinia -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome +MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220662 MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852085 -MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kuskokwim syndrome +MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allergic bronchopulmonary aspergillosis, familial MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allergic bronchopulmonary aspergillosis, familial MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 +MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053854 MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930956 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260899 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062989 -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrogenesis imperfecta -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260899 MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039603 MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013029 MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012561 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432228 +MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 +MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432228 MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 -MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bronchiolitis obliterans with obstructive pulmonary disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchiolitis obliterans -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym feingold syndrome -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym feingold syndrome MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oded syndrome -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022681 -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency +MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022681 +MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, postanesthetic +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:177400 BCHE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase e1 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suxamethonium sensitivity MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acholinesterasemia -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:177400 BCHE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase e1 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 +MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931681 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 +MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931681 MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004485 MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 +MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 +MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial avsd MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial avsd MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238462 MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027101 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic acinar carcinoma +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic acinar carcinoma -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006845 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006845 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009007 -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfc syndrome -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 +MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfc syndrome MONDO:0015281 atrial standstill skos:exactMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931548 -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931323 MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart-hand syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931323 MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney syndrome -MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym name syndrome MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 -MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lamb syndrome -MONDO:0015285 Carney complex skos:exactMatch NCIT:C71638 Lamb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lamb MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 +MONDO:0015285 Carney complex skos:exactMatch NCIT:C71638 Lamb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lamb +MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lamb syndrome +MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym name syndrome MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282577 -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069732 MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339296 +MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069732 MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318020 -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1619692 -MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C115158 Nephrogenic Systemic Fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888044 +MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1619692 MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067467 -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022821 -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 +MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C115158 Nephrogenic Systemic Fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0156372 +MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 +MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022821 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 +MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268397 MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011659 -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056953 MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546394 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270617 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003708 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003074 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 +MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065552 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065552 MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393551 MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0396058 MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931391 -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058919 MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270627 -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311284 MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 +MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311284 MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618874 MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma2 -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600794 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833308 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600794 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274753 @@ -27586,38 +27192,36 @@ MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266725 MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dacryocystocele -MONDO:0015392 nasal glial heterotopia skos:exactMatch NCIT:C121688 Nasal Glial Heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266490 +MONDO:0015392 nasal glial heterotopia skos:exactMatch NCIT:C121688 Nasal Glial Heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339880 -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265240 +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265240 MONDO:0015398 hemifacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemifacial microsomia -MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch NCIT:C172208 Non-Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275417 -MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch NCIT:C172207 Rapidly Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275421 -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gla MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gla +MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gla MONDO:0015411 facial cleft skos:closeMatch NCIT:C124573 Prosoposchisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prosoposchisis -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number type 7 facial cleft semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft +MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number type 7 facial cleft semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 12 semapv:RegularExpressionReplacement MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 12 semapv:RegularExpressionReplacement +MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 13 semapv:RegularExpressionReplacement MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 13 semapv:RegularExpressionReplacement +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification -MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432242 +MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis @@ -27625,129 +27229,129 @@ MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 -MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265438 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 MONDO:0015431 ring chromosome 10 skos:closeMatch OMIM:603820 FFAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r10 -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 +MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 12 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795843 -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 17 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265475 -MONDO:0015434 ring chromosome 18 skos:closeMatch NCIT:C175706 Ring Chromosome 18 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch NCIT:C175706 Ring Chromosome 18 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 19 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch NCIT:C169001 Ring Chromosome 20 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 MONDO:0015437 ring chromosome 21 skos:closeMatch NCIT:C186278 Ring Chromosome 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 +MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 MONDO:0015438 ring chromosome 22 skos:closeMatch NCIT:C179702 Ring Chromosome 22 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 +MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 +MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 4 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 6 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 7 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 6 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 +MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 7 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch NCIT:C175705 Ring Chromosome 8 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 +MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch NCIT:C175705 Ring Chromosome 8 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3805239 MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated complex iii deficiency MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045545 MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 +MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fifth digit syndrome MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coffin-siris syndrome MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coffin-siris syndrome -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fifth digit syndrome -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056667 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 +MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056667 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028176 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028793 -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasopharyngeal carcinoma -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 +MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028793 MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931822 -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 +MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931543 -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312860 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniodigital-intellectual disability syndrome +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312860 MONDO:0015466 cranio-osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 MONDO:0015474 cryptosporidiosis skos:exactMatch NCIT:C35591 Cryptosporidial Gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cryptosporidial gastroenteritis +MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 MONDO:0015483 mandibulofacial dysostosis skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mandibulofacial dysostosis -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010678 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010678 MONDO:0015484 cysticercosis skos:closeMatch NCIT:C84932 Neurocysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurocysticercosis +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile cytochrome c oxidase deficiency -MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024421 +MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 +MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macroglossia MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025391 -MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macroglossia -MONDO:0015496 macroglossia skos:exactMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024421 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 +MONDO:0015496 macroglossia skos:exactMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021449 -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009447 +MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795996 MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile bilateral striatal necrosis @@ -27757,56 +27361,53 @@ MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 E MONDO:0015526 cold-induced sweating syndrome skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sohar-crisponi syndrome MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376319 MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital granular cell tumor -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399352 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 +MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 +MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399352 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1565172 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 +MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0347403 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043324 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043324 MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043322 MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052575 +MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887558 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024291 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis +MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887558 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hemophagocytic lymphohistiocytosis -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158048 Hemophagocytic syndrome associated with an infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 +MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 +MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 +MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711380 +MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017531 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931179 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057903 MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024140 +MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057903 MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057929 MONDO:0015588 limbic encephalitis skos:exactMatch NCIT:C4350 Limbic Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050185 MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar pustulosis +MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050185 MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069664 MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274788 MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 @@ -27814,19 +27415,19 @@ MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle ear anom MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare acquired aplastic anemia -MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chanarin-dorfman syndrome MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chanarin-dorfman syndrome -MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chanarin-dorfman syndrome MONDO:0015612 Dent disease skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 @@ -27834,80 +27435,80 @@ MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011608 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012468 MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344061 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034699 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder/hereditary motor and sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034699 MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282968 MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282971 MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282974 MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282975 MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473579 +MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012602 MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004184 MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004184 -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012602 MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign infantile focal epilepsy with midline spikes and waves during sleep MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393720 MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751791 MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eating reflex epilepsy MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393725 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342436 +MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271889 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342436 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236791 MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065854 MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346421 +MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065854 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfra rearrangement MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfrb rearrangement MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1540912 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 -MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement +MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NCIT:C3015 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038271 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 +MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 +MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038271 MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221027 MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398692 -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044388 MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272238 +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044388 MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072229 MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3645536 MONDO:0015713 idiopathic central precocious puberty skos:closeMatch Orphanet:169615 Idiopathic central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342544 MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272322 MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272324 MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795845 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 +MONDO:0015725 mosaic trisomy 14 skos:closeMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 @@ -27920,44 +27521,43 @@ MONDO:0015730 mosaic trisomy 17 skos:closeMatch NCIT:C37865 Trisomy 17 semapv:Le MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546123 MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538307 MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538307 -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0015746 male infertility due to globozoospermia skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia +MONDO:0015746 male infertility due to globozoospermia skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721005 MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267187 MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3710589 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079772 +MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042971 +MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079772 MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268312 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008631 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 MONDO:0015766 cholera skos:exactMatch NCIT:C86841 Vibrio cholerae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vibrio cholerae -MONDO:0015766 cholera skos:exactMatch NCIT:C157812 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 +MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 -MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 8q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795829 +MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 8q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 8q semapv:RegularExpressionReplacement -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282529 +MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795829 +MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form +MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282529 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265965 -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hoyeraal-hreidarsson syndrome +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265965 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 MONDO:0015780 dyskeratosis congenita skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoyeraal-hreidarsson syndrome MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931522 @@ -27966,29 +27566,29 @@ MONDO:0015790 central diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic MONDO:0015791 peripheral precocious puberty skos:exactMatch NCIT:C113219 Gonadotropin-Independent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-independent precocious puberty MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843691 -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069351 MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334121 +MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067917 +MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334121 MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306794 MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238027 MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443901 MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730271 MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1627767 -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 +MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275321 MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333171 MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274310 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838348 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 +MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts +MONDO:0015827 distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal renal tubular acidosis -MONDO:0015827 distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045224 MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partial bilateral aplasia of the müllerian ducts MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unilateral aplasia of the müllerian ducts @@ -27996,157 +27596,151 @@ MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062606 MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004550 MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063146 -MONDO:0015854 supernumerary breasts skos:exactMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymastia MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 +MONDO:0015854 supernumerary breasts skos:exactMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymastia MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334518 MONDO:0015863 polyembryoma skos:closeMatch NCIT:C66776 Gonadal Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonadal polyembryoma MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334524 MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262659 MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011813 -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033367 MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704323 +MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033367 MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930953 -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym growth hormone insensitivity syndrome MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 +MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302280 +MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 -MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020595 -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 +MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare syndromic dyslipidemia MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 -MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplastic anemia +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome with macrothrombocytopenia, formerly -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dohle leukocyte inclusions with giant platelets -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplastic anemia MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with dispersed leukocytic inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with leukocyte inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym matins -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epstein syndrome +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dohle leukocyte inclusions with giant platelets +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome with macrothrombocytopenia, formerly MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131650 Sebastian Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sebastian syndrome -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fechtner syndrome MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fechtner syndrome +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epstein syndrome MONDO:0015914 primary orthostatic hypotension skos:closeMatch NCIT:C170885 Neurogenic Orthostatic Hypotension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic orthostatic hypotension -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NCIT:C97119 Idiopathic Pulmonary Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic pulmonary hypertension +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary arterial hypertension -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary arterial hypertension -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022611 -MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interstitial lung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary arterial hypertension MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 +MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022611 MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032273 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 +MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018207 -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 +MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 +MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018207 MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048594 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008728 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931613 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 +MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931613 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021202 MONDO:0015947 inherited ichthyosis skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic renal tubular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monogenic diabetes -MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic diabetes -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 +MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085110 -MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 +MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis, bilateral -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 +MONDO:0015987 scimitar syndrome skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051951 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 -MONDO:0015987 scimitar syndrome skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714581 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714581 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency -MONDO:0015991 citrullinemia skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175683 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone rod dystrophy -MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone-rod retinal dystrophy +MONDO:0015991 citrullinemia skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy +MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone-rod retinal dystrophy MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy +MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone rod dystrophy MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931505 -MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014145 +MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 +MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2746066 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keds -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type vi MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds vi +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type vi -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 -MONDO:0016003 ehrlichiosis skos:narrowMatch ICD10CM:A77.49 Other ehrlichiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ehrlichiosis semapv:RegularExpressionReplacement MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 +MONDO:0016003 ehrlichiosis skos:narrowMatch ICD10CM:A77.49 Other ehrlichiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ehrlichiosis semapv:RegularExpressionReplacement +MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 +MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch NCIT:C98928 Fetal Methotrexate Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal methotrexate syndrome MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432367 -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 +MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009207 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009835 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009207 +MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009835 MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432371 -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 MONDO:0016008 fetal hydantoin syndrome skos:exactMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal hydantoin syndrome -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265373 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 +MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k antagonist embryofetopathy MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051445 MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265374 -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects +MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016845 MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853695 MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012780 @@ -28154,74 +27748,74 @@ MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal m MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432373 MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 +MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270855 -MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016029 esthesioneuroblastoma skos:closeMatch NCIT:C3789 Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label olfactory neuroblastoma MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olfactory neuroblastoma -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053873 MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931183 +MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053873 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 +MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931183 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 +MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270972 MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056354 -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 +MONDO:0016035 Nelson syndrome skos:closeMatch OMIM:125550 dermal ridges-off-the-end semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ridges-off-the-end syndrome MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028913 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027577 -MONDO:0016035 Nelson syndrome skos:closeMatch OMIM:125550 dermal ridges-off-the-end semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ridges-off-the-end syndrome +MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028913 +MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406571 -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch NCIT:C4818 Calcifying Aponeurotic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553647 MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma +MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch NCIT:C4818 Calcifying Aponeurotic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318562 -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2029348 MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 +MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009259 MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009260 -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014236 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014801 -MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement -MONDO:0016047 endophthalmitis skos:narrowMatch ICD10WHO:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement +MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.19 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement +MONDO:0016047 endophthalmitis skos:narrowMatch ICD10WHO:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement +MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement +MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931789 MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003747 MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027534 MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym true microcephaly -MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalocele MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 +MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalocele MONDO:0016063 Cowden disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051906 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 MONDO:0016064 cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft palate -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008925 MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 +MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 +MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 +MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432348 MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399440 -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016674 +MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016085 -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 +MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931610 +MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011384 MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069441 MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931411 @@ -28238,22 +27832,22 @@ MONDO:0016093 borderline epithelial tumor of ovary skos:closeMatch Orphanet:2064 MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the vagina MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vulvovaginal rhabdomyosarcoma MONDO:0016101 neurolymphomatosis skos:closeMatch NCIT:C84884 Marek Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marek disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027126 -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 +MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic disorder semapv:RegularExpressionReplacement MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 -MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic disorder semapv:RegularExpressionReplacement +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027126 MONDO:0016115 bulbospinal muscular atrophy of adulthood skos:closeMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bulbospinal muscular atrophy of adult MONDO:0016117 muscular lipidosis skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410214 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 +MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279412 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016208 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051512 MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0150005 MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263997 @@ -28270,31 +27864,25 @@ MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcol MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931587 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with retinal degeneration -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar syndrome-pigmentary maculopathy syndrome +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with macular degeneration and external ophthalmoplegia +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with pigmentary retinopathy -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with macular degeneration and external ophthalmoplegia -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with retinal degeneration +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796418 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068850 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2316212 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 +MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 +MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836081 MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665812 @@ -28303,10 +27891,10 @@ MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoana MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign nocturnal alternating hemiplegia of childhood MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited congenital spastic tetraplegia +MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064924 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 @@ -28319,28 +27907,28 @@ MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capill MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367420 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018825 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266119 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 +MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0016238 solitary fibrous tumor skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010690 MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011777 +MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010690 +MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018987 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019464 +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338488 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alternating hemiplegia -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita +MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018883 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019021 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018883 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238159 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053215 MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931788 @@ -28351,9 +27939,9 @@ MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinofibroma of the corpus uteri MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma of the corpus uteri MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280631 -MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepatitis with Centrilobular Necrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune hepatitis with centrilobular necrosis MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003827 +MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepatitis with Centrilobular Necrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune hepatitis with centrilobular necrosis MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch NCIT:C8719 Endometrial Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial squamous cell carcinoma MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma @@ -28361,32 +27949,32 @@ MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch NCI MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial transitional cell carcinoma MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the corpus uteri -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotesticular dsd +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label true hermaphroditism -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cervical adenoid basal carcinoma +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotesticular dsd +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical adenoid basal carcinoma +MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cervical adenoid basal carcinoma MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the cervix uteri MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306980 MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 +MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011120 -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023524 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036807 +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161105 MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236490 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 @@ -28396,45 +27984,42 @@ MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:154 Famil MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020225 -MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010506 +MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 +MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016352 idiopathic inherited hypercalciuria skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypercalciuria -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748540 MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290138 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674616 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674616 MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch NCIT:C148259 Joubert Syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 -MONDO:0016367 dermatomyositis skos:closeMatch NCIT:C27313 Adult Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult dermatomyositis +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:closeMatch NCIT:C27313 Adult Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult dermatomyositis +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch NCIT:C178826 Rothmund-Thomson Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 +MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch NCIT:C178827 Rothmund-Thomson Syndrome Type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 +MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 +MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238265 -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018391 MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154731 +MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018391 MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym facial neuralgia MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010269 MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406464 @@ -28442,36 +28027,36 @@ MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538389 MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145700 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029147 -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029147 MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931685 MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931722 +MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028933 MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158981 MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931644 -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 +MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 MONDO:0016410 central congenital hypothyroidism skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsh deficiency -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346153 MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial male +MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 +MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346153 MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051222 MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535942 MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051919 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baló concentric sclerosis -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010252 -MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart-hand syndrome +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baló concentric sclerosis +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atriodigital dysplasia +MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart-hand syndrome MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear focal elastosis MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406555 MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274759 @@ -28480,19 +28065,19 @@ MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739094 MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267126 MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342337 -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003949 MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication +MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003949 +MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pachyonychia congenita type 1 semapv:RegularExpressionReplacement MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265334 +MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pachyonychia congenita type 1 semapv:RegularExpressionReplacement MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 -MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pachyonychia congenita type 1 semapv:RegularExpressionReplacement -MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pachyonychia congenita type 1 semapv:RegularExpressionReplacement -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 +MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013618 -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013706 MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 +MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013706 MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cerebral saccular aneurysm MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339534 MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 @@ -28509,35 +28094,35 @@ MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome sk MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraparetic variant of guillain-barré syndrome MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315246 MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenocortical carcinoma with pure aldosterone hypersecretion +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kabuki make-up syndrome +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kabuki syndrome MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niikawa-kuroki syndrome -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796004 -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265291 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 +MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265291 MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenny syndrome -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931444 -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064585 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 +MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064585 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3713420 MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265428 MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body stalk anomaly -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265761 MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 +MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265761 MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly and epileptic encephalopathy MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly and epileptic encephalopathy MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048816 MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238111 -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd27 deficiency MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 @@ -28546,70 +28131,70 @@ MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536418 MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 +MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 +MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024792 MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931080 -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037418 MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000746 +MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037418 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 +MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000746 MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835172 -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069713 -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kartagener syndrome +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069713 MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split-hand deformity MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265554 MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated split hand-split foot malformation -MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent truncus arteriosus -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym truncus arteriosus communis +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interrupted aortic arch +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double-outlet right ventricle -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 +MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857586 -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042949 +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym truncus arteriosus communis MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221013 +MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042949 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349788 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035667 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155866 -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855923 +MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035667 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mabry syndrome +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855923 MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997910 -MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym citrin deficiency MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym citrin deficiency -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatasia, perinatal lethal +MONDO:0016602 citrin deficiency skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym citrin deficiency MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673477 -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840322 +MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatasia, perinatal lethal MONDO:0016607 odontohypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym odontohypophosphatasia +MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840322 MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050183 MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260965 -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751208 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 @@ -28617,62 +28202,62 @@ MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syn MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930962 MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower limb malformation-hypospadias syndrome MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931047 -MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 +MONDO:0016642 meningioma skos:closeMatch NCIT:C3229 Meningeal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningeal neoplasm MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 MONDO:0016642 meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma -MONDO:0016642 meningioma skos:closeMatch NCIT:C3229 Meningeal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningeal neoplasm -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 +MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontonasal dysplasia -MONDO:0016643 frontonasal dysplasia skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 +MONDO:0016643 frontonasal dysplasia skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontonasal dysplasia +MONDO:0016643 frontonasal dysplasia skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028197 -MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome -MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micro syndrome +MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome +MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 5 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 8q21.11 microdeletion syndrome MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711387 -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040655 +MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055579 +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040655 MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch NCIT:C95539 Sickle Beta Thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sickle beta thalassemia MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch NCIT:C81288 S-Beta Thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label s-beta thalassemia -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057072 MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272084 +MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057072 MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056724 +MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272084 MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272085 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 +MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendo calcaneus, short MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital plantar contractures -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860229 MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label high-grade astrocytoma -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018340 MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206726 +MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018340 MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334588 MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066254 MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334576 -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334579 -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002224 +MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 +MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334579 MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065869 MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280785 MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334580 @@ -28683,66 +28268,66 @@ MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleo MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334583 MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1519086 MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205768 +MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030286 MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglioma -MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026659 MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334590 -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014967 -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026659 MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma +MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014967 MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymoma MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205769 MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014968 MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280788 -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251651 Oligoastrocytic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 +MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 +MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251651 Oligoastrocytic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431108 MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363903 MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334587 MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751291 -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0700367 +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 +MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0700367 MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085138 -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067478 MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus carcinoma MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus carcinoma -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931529 +MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067478 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931529 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205898 MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050487 -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035059 MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917890 +MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035059 MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985219 MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206716 MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017701 -MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431112 MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985174 -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025284 MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061282 +MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025284 MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266113 -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant melanoma of meninges MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206734 +MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant melanoma of meninges MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018813 -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cleft palate-abnormal retinal pigmentation syndrome +MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206734 MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930954 +MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cleft palate-abnormal retinal pigmentation syndrome MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266188 -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029267 MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 +MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029267 MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334616 -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 +MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 @@ -28755,8 +28340,8 @@ MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondylo MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023650 MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406365 MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406363 -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023647 MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056959 +MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023647 MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406366 MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406369 MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443900 @@ -28764,60 +28349,60 @@ MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complet MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334529 MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266159 MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683791 -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia with epilepsy MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 +MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia with epilepsy MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna-associated leigh syndrome -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070612 -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome +MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070612 +MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028047 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 -MONDO:0016820 Moyamoya disease skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028047 +MONDO:0016820 Moyamoya disease skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028427 +MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251950 +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835084 MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266833 +MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835084 MONDO:0016829 familial visceral myopathy skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megaduodenum and/or megacystis -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795865 MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751547 MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome y syndrome MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with peripheral pulmonary stenosis +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic ductular hypoplasia, syndromatic MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch NCIT:C36501 Loss of Chromosome 1p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 1p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795796 +MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch NCIT:C36501 Loss of Chromosome 1p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 1p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795836 MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795804 MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795816 @@ -28840,102 +28425,102 @@ MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027961 MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051713 -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 -MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelanosis of ito +MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelanosis of ito +MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelanosis of ito MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406819 -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016782 MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017406 +MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016782 MONDO:0016990 acquired prothrombin deficiency skos:closeMatch NCIT:C131622 Acquired Factor II Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired factor ii deficiency MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392610 MONDO:0016993 generalized peeling skin syndrome type C skos:closeMatch Orphanet:263558 Peeling skin syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type c +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taybi-linder syndrome +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low-birth-weight dwarfism with skeletal dysplasia -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taybi-linder syndrome -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child +MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym child syndrome MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label child +MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 +MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thanatophoric dwarfism MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thanatophoric dysplasia -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070665 MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332965 -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 +MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070665 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:93969 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Spina bifida aperta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida aperta +MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 +MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 MONDO:0017069 spina bifida cystica skos:closeMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele +MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Spina bifida aperta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida aperta MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spina bifida cystica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009694 +MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:93969 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele +MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124517 Cranial Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele +MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009694 MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele -MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124517 Cranial Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arc syndrome MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028271 +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arc syndrome MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029502 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 +MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028271 MONDO:0017127 inherited soft tissue tumor skos:closeMatch Orphanet:271832 Genetic soft tissue tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic soft tissue tumor MONDO:0017128 inherited digestive tract tumor skos:closeMatch Orphanet:271835 Genetic digestive tract tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic digestive tract tumor MONDO:0017129 inherited cardiac tumor skos:closeMatch Orphanet:271841 Genetic cardiac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic cardiac tumor MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029001 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039202 +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz syndrome MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz gbbb syndrome MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias MONDO:0017140 L1 syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crash syndrome MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065151 MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340544 MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imperforate oropharynx-costovertebral anomalies syndrome -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061299 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061299 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031231 -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029421 -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans -MONDO:0017182 familial hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nesidioblastosis +MONDO:0017182 familial hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072255 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 -MONDO:0017195 Bruck syndrome skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063718 MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432253 +MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063718 +MONDO:0017195 Bruck syndrome skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931096 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and related disorders -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031280 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 +MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931462 MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059593 MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527306 MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000730 MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154773 -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008864 MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154774 -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051714 +MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008864 MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006666 +MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051714 MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NCIT:C35444 Crescentic Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crescentic glomerulonephritis MONDO:0017241 AP4-related intellectual disability and spastic paraplegia skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label severe intellectual disability and progressive spastic paraplegia MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4305323 @@ -28943,40 +28528,40 @@ MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:Lexic MONDO:0017256 idiopathic anterior uveitis skos:closeMatch Orphanet:280914 Idiopathic anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339315 MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label self-improving collodion baby MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855789 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931617 -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 +MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068968 +MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallidopontonigral degeneration MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia MONDO:0017276 frontotemporal dementia skos:narrowMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym frontotemporal dementia semapv:RegularExpressionReplacement MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085409 MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854478 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echinococcus multilocularis infection MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echinococcus multilocularis infection +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868854 -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067287 +MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 +MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854394 -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071569 MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 +MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071569 MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3544214 MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854437 MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730298 -MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement -MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 +MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement +MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268461 MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0685838 MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome @@ -28984,23 +28569,23 @@ MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym veds MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds type 4 semapv:RegularExpressionReplacement MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930950 -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 +MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014490 -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C36293 Ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovalocytosis +MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 +MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268194 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268194 MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 MONDO:0017339 exfoliative ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838440 -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363744 MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068349 +MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363744 MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065039 MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3472614 MONDO:0017349 myopericytoma skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma @@ -29015,48 +28600,48 @@ MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenita MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035921 MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063020 +MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 +MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036012 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 +MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036012 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003267 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038294 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035012 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003267 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 MONDO:0017376 reactive arthritis skos:exactMatch NCIT:C34975 Reiter Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiter syndrome MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931655 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345893 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048799 MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877055 +MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048799 MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334480 -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205944 MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015099 +MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205944 MONDO:0017395 fixed pigmented erythema skos:exactMatch NCIT:C111986 Fixed Drug Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048796 MONDO:0017398 3MC syndrome skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopalatoskeletal syndrome -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615710 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615710 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch OMIM:615710 mitchell-riley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349499 MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036172 -MONDO:0017415 multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple pterygium syndrome MONDO:0017415 multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome +MONDO:0017415 multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple pterygium syndrome MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080040 MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673883 MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001926 MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024500 MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital joint dislocations -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome +MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym popliteal pterygium syndrome MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central polydactyly @@ -29065,51 +28650,49 @@ MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isola MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010520 MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931761 MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type +MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukocyte adhesion deficiency MONDO:0017571 Proteus-like syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proteus-like syndrome -MONDO:0017571 Proteus-like syndrome skos:exactMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043848 -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014061 -MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10WHO:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 +MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014061 +MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculogastrointestinal muscular dystrophy +MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculogastrointestinal muscular dystrophy MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 +MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931542 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fryns-aftimos syndrome MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346300 MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare nail tumor -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048853 MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262401 +MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048853 MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041932 MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854511 -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321547 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019054 MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349633 MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332078 +MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059387 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867774 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068896 -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059387 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054842 MONDO:0017607 caudal regression sequence skos:exactMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral agenesis syndrome MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primitive renal tubule syndrome -MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular dysgenesis MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis +MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular dysgenesis MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079298 MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032019 MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016109 @@ -29118,19 +28701,16 @@ MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junc MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796264 MONDO:0017615 benign familial infantile epilepsy skos:exactMatch NCIT:C183308 Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959582 -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pten hamartoma tumor syndrome -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pten hamartoma tumor syndrome +MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pten hamartoma tumor syndrome +MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959582 MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027123 MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339317 MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058951 MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393565 -MONDO:0017648 Sydenham chorea skos:exactMatch NCIT:C168445 Sydenham Chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042732 -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 +MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stoll-géraudel-chauvin syndrome MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302839 MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931547 @@ -29143,28 +28723,28 @@ MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficien MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856304 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856305 -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 +MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 -MONDO:0017711 pancreatic colipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic colipase deficiency MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268241 +MONDO:0017711 pancreatic colipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic colipase deficiency MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268635 MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231530 MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017083 -MONDO:0017719 gangliosidosis skos:narrowMatch ICD10WHO:E75.1 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement MONDO:0017719 gangliosidosis skos:narrowMatch ICD10CM:E75.19 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268274 +MONDO:0017719 gangliosidosis skos:narrowMatch ICD10WHO:E75.1 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement MONDO:0017720 GM2 gangliosidosis skos:narrowMatch ICD10CM:E75.09 Other GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gm2 gangliosidosis semapv:RegularExpressionReplacement +MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268274 MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848914 MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058800 MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010371 @@ -29172,106 +28752,103 @@ MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748910 MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342685 -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061091 MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048260 +MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061091 MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of zinc metabolism and transport -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 +MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048260 +MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035436 -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 +MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270857 MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome +MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270857 MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473527 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020597 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 +MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020597 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025229 +MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 +MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 MONDO:0017775 melioidosis skos:narrowMatch ICD10WHO:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement MONDO:0017775 melioidosis skos:narrowMatch ICD10CM:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 -MONDO:0017776 nocardiosis skos:exactMatch NCIT:C171147 Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029444 MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023686 -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619182 MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C7644 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma +MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C4310 Adenomatoid Odontogenic Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenomatoid odontogenic tumor MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027139 MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025184 +MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027139 MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151860 MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346305 -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029236 MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029236 MONDO:0017832 mycobacterium xenopi infection skos:closeMatch NCIT:C150881 Mycobacterium xenopi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mycobacterium xenopi -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratoderma ''en cocardes'' MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 -MONDO:0017838 sclerosteosis skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly +MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratoderma ''en cocardes'' MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265301 MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 +MONDO:0017838 sclerosteosis skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-retinal syndrome -MONDO:0017842 Senior-Loken syndrome skos:exactMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome +MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senior-loken syndrome MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 -MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senior-loken syndrome -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036920 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040493 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 +MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 +MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049216 -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 MONDO:0017850 sirenomelia skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sirenomelia -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica +MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 +MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049216 +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier-gottron disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrokeratodermia variabilis +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049048 MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265961 MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001890 +MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrokeratodermia variabilis MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 -MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia -MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome +MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001890 MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023440 +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome +MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NCIT:C99036 Pulmonary Vein Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary vein stenosis -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valvular pulmonary stenosis +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valvular pulmonary stenosis MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165028 MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019097 @@ -29279,40 +28856,40 @@ MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivia MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10005932 MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042470 MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343633 -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch NCIT:C14213 Hantavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hantavirus MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019143 MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243025 -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035613 +MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch NCIT:C14213 Hantavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hantavirus MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039143 -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 +MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035613 MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022810 -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030310 +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019103 +MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030310 +MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306837 MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266042 MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931508 MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutathione synthetase deficiency MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyroglutamic aciduria -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5-oxoprolinuria -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dehydrated hereditary stomatocytosis MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931292 -MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850321 MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 +MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 +MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex +MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931654 MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wl syndrome @@ -29326,30 +28903,29 @@ MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch OMIM:605714 cerebral amyloid MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265255 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328840 -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym canale-smith syndrome -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune lymphoproliferative syndrome -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069521 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069521 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune lymphoproliferative syndrome +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydromyelia -MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 +MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221158 MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039235 MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1631597 -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043097 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039263 -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical aortic arch +MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 +MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fatty acid hydroxylase-associated neurodegeneration MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocythemia with distal limb defects MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inverse klippel-trénaunay syndrome @@ -29357,107 +28933,107 @@ MONDO:0018019 lead poisoning skos:exactMatch NCIT:C34761 Lead Poisoning semapv:L MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617971 MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020241 MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510437 -MONDO:0018026 tetraploidy syndrome skos:exactMatch NCIT:C28450 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057891 MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057891 +MONDO:0018026 tetraploidy syndrome skos:exactMatch NCIT:C28450 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isodicentric chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xiii deficiency +MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795832 MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795832 MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376407 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071249 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432365 +MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751757 MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypersomnolence -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846142 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hoyeraal-hreidarsson syndrome +MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 +MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931365 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062506 MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272285 +MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580181 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044628 MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056960 MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023648 -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 +MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261567 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261567 -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 +MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027249 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025294 +MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931485 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047883 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030328 -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 -MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy x MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x +MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy x +MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 -MONDO:0018067 triploidy skos:closeMatch NCIT:C85204 Triploidy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triploidy syndrome +MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 MONDO:0018067 triploidy skos:exactMatch NCIT:C8324 Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy -MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement -MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018067 triploidy skos:closeMatch NCIT:C85204 Triploidy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triploidy syndrome MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152095 MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 +MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 -MONDO:0018071 trisomy 18 skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards syndrome MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement +MONDO:0018071 trisomy 18 skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards syndrome MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053884 -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C101362 Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement -MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044755 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 +MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 +MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041351 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 +MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266101 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 +MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930957 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 +MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 +MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 MONDO:0018084 Uhl anomaly skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uhl anomaly MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931371 +MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019104 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016207 MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 -MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever +MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013611 MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013069 MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 @@ -29467,47 +29043,47 @@ MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Ko MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069203 +MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms syndrome MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021750 MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 +MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms syndrome +MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011005 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011005 -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 +MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 +MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 MONDO:0018106 hereditary xanthinuria skos:exactMatch OMIM:278300 xanthinuria, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014985 +MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 +MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274103 MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oca1-ts MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency, infantile type MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vasoproliferative tumor of the retina -MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glb1 deficiency MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085131 +MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glb1 deficiency MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017205 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018048 +MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 +MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017205 MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocerebrosidase deficiency -MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843920 MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729842 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 @@ -29515,62 +29091,62 @@ MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Che MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878675 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 MONDO:0018154 Madelung deformity skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym madelung deformity -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154682 MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036704 +MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154682 MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059396 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 +MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 +MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956395 MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956396 MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029172 -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027974 MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549307 +MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027974 MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3496337 -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346180 MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian germ cell cancer MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian germ cell cancer +MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346180 MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856883 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017636 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018336 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018337 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 -MONDO:0018177 glioblastoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 +MONDO:0018177 glioblastoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017636 MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025213 -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 +MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041929 -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006563 MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021100 +MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006563 MONDO:0018188 genetic intestinal polyposis skos:closeMatch Orphanet:363314 Genetic intestinal polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713443 MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270706 -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502809 MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized epilepsy with febrile seizures-plus -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072106 -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration +MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502809 MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch NCIT:C4685 Paraneoplastic Cerebellar Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration +MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration +MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072106 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455990 MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stevens-johnson syndrome, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042033 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersensitivity syndrome, carbamazepine-induced, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NCIT:C3385 Erythema Multiforme Major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038325 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stevens-johnson syndrome, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersensitivity syndrome, carbamazepine-induced, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NCIT:C3385 Erythema Multiforme Major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748918 MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013393 MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271865 @@ -29581,44 +29157,44 @@ MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 At MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931293 MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279980 MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 -MONDO:0018274 GM3 synthase deficiency skos:closeMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salt and pepper mental retardation syndrome MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609056 +MONDO:0018274 GM3 synthase deficiency skos:closeMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salt and pepper mental retardation syndrome MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy due to dystroglycanopathy -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600040 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720830 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282488 -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600040 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062908 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 +MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008906 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 +MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334091 MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic cystic hamartoma -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aganglionic megacolon MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019569 +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3661523 +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aganglionic megacolon MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3661523 +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch OMIM:604856 langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069698 -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604856 +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019655 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020141 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300910 MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0495465 @@ -29638,103 +29214,101 @@ MONDO:0018369 immature ovarian teratoma skos:closeMatch NCIT:C4286 Immature Tera MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal nebulin myopathy MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C118385 Avascular Necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2711248 -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondritis +MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018381 osteochondrosis skos:exactMatch NCIT:C118381 Apophysitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label apophysitis MONDO:0018382 epiphysiolysis of the hip skos:exactMatch NCIT:C118384 Slipped Capital Femoral Epiphysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label slipped capital femoral epiphysis -MONDO:0018408 cystic echinococcosis skos:exactMatch NCIT:C122289 Echinococcus granulosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014096 +MONDO:0018408 cystic echinococcosis skos:exactMatch NCIT:C122289 Echinococcus granulosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoic acid biosynthesis defect MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267448 MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864498 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618272 MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221290 -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disorder-associated renal cell carcinoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 +MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342637 -MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia +MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 +MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperglycerolemia -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 +MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057429 +MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 +MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854359 -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystinosis, infantile nephropathic MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosin, defect of -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal cystine transport protein, defect of +MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystinosis, infantile nephropathic MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, atypical nephropathic -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal agenesis -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal agenesis +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal cystine transport protein, defect of MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal aplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal adysplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal aplasia -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-betalipoproteinemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hypercholesterolemia with hyperlipemia +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal agenesis +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal agenesis MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, severe, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein e, deficiency or defect of MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperbeta- and prebetalipoproteinemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia with familial hypercholesterolemic xanthomatosis +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hypercholesterolemia with hyperlipemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 +MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-betalipoproteinemia MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kernicterus spectrum disorder -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0701163 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0701163 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888925 MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580190 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 -MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperthermia of anesthesia MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020844 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024591 +MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperthermia of anesthesia +MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the small intestine MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335690 MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch NCIT:C173813 Pancreatic Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic squamous cell carcinoma -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucinous cystadenocarcinoma of the pancreas MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma +MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucinous cystadenocarcinoma of the pancreas MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic mucinous cystadenocarcinoma -MONDO:0018540 PFAPA syndrome skos:closeMatch NCIT:C128115 Marshall Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome -MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome -MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch NCIT:C128115 Marshall Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052210 -MONDO:0018542 severe congenital neutropenia skos:exactMatch NCIT:C166152 Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sudanophilic cerebral sclerosis -MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder +MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051260 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 -MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 +MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder MONDO:0018544 adrenoleukodystrophy skos:narrowMatch ICD10CM:E71.528 Other X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym x-linked adrenoleukodystrophy semapv:RegularExpressionReplacement -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 +MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropic deficiency +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated congenital gonadotropin deficiency MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067685 MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 +MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 MONDO:0018570 hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoethanolaminuria MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 @@ -29742,62 +29316,50 @@ MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia sem MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020630 MONDO:0018579 disorder of ketone body transport skos:closeMatch Orphanet:438072 Disorder of keton body transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of keton body transport MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861457 -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264342 MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931939 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010510 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010308 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 -MONDO:0018613 AH amyloidosis skos:exactMatch NCIT:C158962 AH Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis MONDO:0018615 hemicrania continua skos:exactMatch NCIT:C117081 Hemicrania Continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730328 MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030528 +MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34896 Paratyphoid Fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c -MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146550 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marie unna hereditary hypotrichosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis, marie unna type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis type 4 semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis type 4 semapv:RegularExpressionReplacement -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018634 hereditary amyloidosis skos:closeMatch NCIT:C84555 Familial Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial amyloidosis MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206246 -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 +MONDO:0018634 hereditary amyloidosis skos:closeMatch NCIT:C84555 Familial Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial amyloidosis MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008313 +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008313 +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684275 MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061992 MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618019 MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatoblastoma -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062001 +MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 +MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoblastoma MONDO:0018667 pleural empyema skos:closeMatch NCIT:C45692 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax MONDO:0018667 pleural empyema skos:closeMatch NCIT:C34572 Empyema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label empyema -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete situs inversus -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs ambiguus -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial situs inversus -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs ambiguous MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067265 MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178805 MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059119 @@ -29806,49 +29368,48 @@ MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet: MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sporadic cjd MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917981 MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023484 -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch OMIM:103100 adie pupil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poorly reacting pupils -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 +MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 +MONDO:0018690 Holmes-Adie syndrome skos:closeMatch OMIM:103100 adie pupil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poorly reacting pupils MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated tracheoesophageal fistula -MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch NCIT:C172209 Partially Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:604667 CADPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label caps -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NCIT:C34907 Benign Mucous Membrane Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign mucous membrane pemphigoid +MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps +MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057052 +MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NCIT:C34907 Benign Mucous Membrane Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign mucous membrane pemphigoid MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056508 MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406650 MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406650 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome +MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614833 MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4302263 MONDO:0018767 severe primary trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-odor syndrome MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602079 +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cold urticaria MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064570 -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023076 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311386 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057621 MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 -MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeune syndrome +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jeune syndrome +MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeune syndrome MONDO:0018771 congenital anomaly of ventricular septum skos:closeMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital anomaly of ventricular septum MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym joubert syndrome MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert-boltshauser syndrome @@ -29856,422 +29417,420 @@ MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 se MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048786 MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265336 MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrointestinal ulceration, recurrent, with dysfunctional platelets -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal ulceration, recurrent, with dysfunctional platelets MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phospholipase a2, group iva, deficiency of +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal ulceration, recurrent, with dysfunctional platelets MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618372 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053142 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010670 MONDO:0018805 bile duct cyst skos:exactMatch NCIT:C2943 Choledochal Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choledochal cyst -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sclerosing cholangitis, neonatal MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing cholangitis, neonatal +MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sclerosing cholangitis, neonatal MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037635 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 +MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 +MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065580 MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1695985 -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label usp18 deficiency MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 +MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label usp18 deficiency MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 +MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 +MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048911 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065857 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065857 MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065375 MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 +MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065375 MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 MONDO:0018846 penile agenesis skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 +MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 +MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C123249 Idiopathic Retroperitoneal Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic retroperitoneal fibrosis MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 +MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C123249 Idiopathic Retroperitoneal Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic retroperitoneal fibrosis -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 +MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta +MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilar cyst -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 +MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 MONDO:0018852 achromatopsia skos:exactMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pingelapese blindness MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch NCIT:C124070 Keratosis Pilaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis pilaris +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059547 MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398367 -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cree encephalitis MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 +MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cree encephalitis MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023522 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metachromatic leukodystrophy -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metachromatic leukodystrophy MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 MONDO:0018870 arterial calcification of infancy skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000890 +MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023462 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000880 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023467 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute myeloid -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023467 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbla syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbla syndrome MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085390 -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 +MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 MONDO:0018877 retinitis punctata albescens skos:exactMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis punctata albescens MONDO:0018878 branchiootic syndrome skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootic dysplasia MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 -MONDO:0018881 myelodysplastic syndrome skos:closeMatch OMIM:614286 myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelodysplastic syndrome, susceptibility to -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 +MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463824 MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614286 +MONDO:0018881 myelodysplastic syndrome skos:closeMatch OMIM:614286 myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelodysplastic syndrome, susceptibility to +MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10WHO:D46.7 Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10CM:D46.Z Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042384 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic vasculitis -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042384 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024603 +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lawrence-seip syndrome MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059364 +MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048661 -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346068 MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068841 -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040664 -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 +MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346068 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 +MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 +MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040664 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043648 -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034155 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034155 +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043648 MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302772 +MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051708 +MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302772 MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960469 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206669 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 +MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036231 -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranoproliferative glomerulonephritis -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 +MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 +MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018370 +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranoproliferative glomerulonephritis MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 +MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012818 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024301 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010276 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma -MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018910 oculocutaneous albinism skos:narrowMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym oculocutaneous albinism semapv:RegularExpressionReplacement MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078918 -MONDO:0018910 oculocutaneous albinism skos:narrowMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym oculocutaneous albinism semapv:RegularExpressionReplacement -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606391 MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342276 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011652 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 -MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606391 MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020610 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020562 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020564 +MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020610 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011652 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020562 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020564 +MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary hypotrichosis simplex -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007426 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016065 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 -MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy -MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripartum cardiomyopathy -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0269972 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265215 +MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0269972 MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meckel syndrome MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265215 MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012979 -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066430 +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cayler cardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conotruncal anomaly face syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0018924 microphthalmia, Lenz type skos:closeMatch OMIM:309800 microphthalmia, syndromic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz dysplasia MONDO:0018926 human prion disease skos:exactMatch NCIT:C128346 Transmissible Spongiform Encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transmissible spongiform encephalopathy +MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262087 -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 Monosomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 -MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy type 21 semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 Monosomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic hairy cell leukemia MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023443 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019053 -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic hairy cell leukemia -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004430 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029417 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiia -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym naglu deficiency -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome b -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiib -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome b +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym naglu deficiency MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiia MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iva +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028095 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751882 +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931766 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931639 MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678065 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061988 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod syndrome with chronic granulomatous disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod phenotype +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod syndrome with chronic granulomatous disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866130 MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175709 -MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiminicore myopathy MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 +MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiminicore myopathy MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore myopathy -MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmd MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mmd +MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmd MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751336 MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268600 MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord and pharyngeal distal myopathy -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003094 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 +MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003094 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 -MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna +MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2697932 -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168198 -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 +MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168198 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 +MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339985 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206157 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, acetazolamide-responsive +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, potassium-aggravated MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, potassium-aggravated +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngospasm, severe neonatal episodic MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia, potassium-aggravated -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, acetazolamide-responsive MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia fluctuans -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngospasm, severe neonatal episodic -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NCIT:C122789 Myotonia Fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, atypical -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NCIT:C122789 Myotonia Fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens MONDO:0018961 familial melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272087 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022034 MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152234 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152426 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011321 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 +MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057056 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112570 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome semapv:RegularExpressionReplacement MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027831 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:162200 neurofibromatosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:162200 neurofibromatosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 +MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1736154 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 @@ -30279,53 +29838,51 @@ MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-rel MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393847 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392060 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392060 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029307 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0405469 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 +MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 -MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ice syndrome +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 -MONDO:0018989 recurrent acute pancreatitis skos:exactMatch NCIT:C184324 Recurrent Acute Pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent acute pancreatitis +MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ice syndrome MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039142 MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606002 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 -MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome +MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 +MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339527 -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018999 LCAT deficiency skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lcat deficiency MONDO:0019000 perineural cyst skos:exactMatch NCIT:C4797 Perineural Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028191 -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029145 MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027708 +MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029145 MONDO:0019004 kidney Wilms tumor skos:exactMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephroblastoma MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0687120 MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868672 MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046879 -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149841 MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch NCIT:C84402 Benign Recurrent Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis -MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149841 MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch NCIT:C131425 Congenital Hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hyperinsulinism +MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpenter syndrome @@ -30334,24 +29891,24 @@ MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndro MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795690 MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030308 MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739395 -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029434 -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031243 MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 +MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029434 +MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031243 MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle bone disorder semapv:RegularExpressionReplacement +MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1136033 -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036221 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 +MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036221 MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272202 +MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263417 MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536003 @@ -30359,64 +29916,64 @@ MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334489 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036813 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023520 MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024381 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060892 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 MONDO:0019050 inherited hemoglobinopathy skos:closeMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy MONDO:0019050 inherited hemoglobinopathy skos:narrowMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemoglobinopathies semapv:RegularExpressionReplacement MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060892 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058097 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062018 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rare metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025521 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282528 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029323 +MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone tumor MONDO:0019063 vascular anomaly skos:closeMatch Orphanet:68419 Vascular anomaly or angioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular anomaly or angioma MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019903 MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 +MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 MONDO:0019065 amyloidosis skos:exactMatch NCIT:C117187 Amyloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyloid +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 +MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019072 intrahepatic cholestasis skos:exactMatch NCIT:C84400 Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectatic membranoproliferative glomerulonephritis -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulonephritis with sparse hair and telangiectases -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectatic membranoproliferative glomerulonephritis MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bosley-salih-alorainy syndrome -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068856 MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 +MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068856 MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3c syndrome MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796137 +MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263504 MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001766 MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030805 @@ -30426,27 +29983,27 @@ MONDO:0019082 bullous pemphigoid skos:closeMatch NCIT:C34908 Pemphigoid semapv:L MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037766 MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022577 MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152018 MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal cancer MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030155 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206698 +MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152018 MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051358 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206698 MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 +MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051358 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006287 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061416 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032064 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050245 MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242584 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029322 @@ -30454,184 +30011,184 @@ MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066142 +MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 +MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 MONDO:0019104 Sandifer syndrome skos:closeMatch NCIT:C113397 Sandifer's Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandifers syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849387 -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272052 +MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 +MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272052 +MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849387 MONDO:0019107 Rh deficiency syndrome skos:closeMatch OMIM:268150 rh-null, regulator iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rh-mod MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3698095 -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931684 MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537980 MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537980 +MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931684 MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072376 MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267131 MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc4r deficiency -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854723 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038857 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 +MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854723 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535939 MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C124358 Pneumocystis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumocystis +MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535939 +MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032453 -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038304 +MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032453 +MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 +MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036102 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 +MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206719 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061418 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949506 MONDO:0019141 porokeratosis of Mibelli skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porokeratosis of mibelli -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061356 +MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949506 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036181 +MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061356 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 +MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 +MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069517 -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 +MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 +MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein s deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein c deficiency MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3266863 +MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027030 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027030 -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053687 +MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 -MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053687 MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 +MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039585 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhtr deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym androgen receptor deficiency -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039585 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300068 MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024406 MONDO:0019155 Leydig cell hypoplasia skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052841 MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268436 MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449844 MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449844 MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperkalemic hypertension -MONDO:0019165 central precocious puberty skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342543 +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome MONDO:0019165 central precocious puberty skos:exactMatch NCIT:C113217 Gonadotropin-Dependent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-dependent precocious puberty +MONDO:0019165 central precocious puberty skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342543 MONDO:0019167 immunoglobulin a vasculitis skos:closeMatch NCIT:C35499 Vascular Purpura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular purpura +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704275 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041188 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency +MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036024 -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 -MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ward-romano syndrome MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome +MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ward-romano syndrome +MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 +MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035828 MONDO:0019172 aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003076 -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037742 +MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711390 MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039445 MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019883 MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 -MONDO:0019182 inherited obesity skos:exactMatch NCIT:C120382 Monogenic Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic obesity MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 +MONDO:0019182 inherited obesity skos:exactMatch NCIT:C120382 Monogenic Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic obesity +MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 +MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037731 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037731 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 +MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495488 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059255 -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035934 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039281 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035934 +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039281 MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein syndrome MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid and other organic acid metabolism MONDO:0019190 juvenile polyposis of infancy skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile polyposis of infancy +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026103 MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271693 -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary inclusion body myopathy type 3 -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 +MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038914 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038914 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043788 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268446 +MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043788 MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066948 -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066728 +MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066393 MONDO:0019206 sparse hair-short stature-skin anomalies syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sparse hair-short stature-skin anomalies syndrome MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853564 MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960543 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014057 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007129 -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061023 MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of carbohydrate metabolism -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268641 +MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061023 MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid absorption and transport +MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268641 MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of bile acid synthesis MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of neurotransmitter metabolism and transport MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of cobalamin metabolism and transport @@ -30644,54 +30201,52 @@ MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:7 MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of ornithine or proline metabolism MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pentose phosphate metabolism MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of peptide metabolism +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroxisome biogenesis disorder -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of phenylalanin or tyrosine metabolism MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine metabolism -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 +MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyridoxine metabolism MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070969 -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyrimidine metabolism +MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of serine or glycine metabolism MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of the gamma-glutamyl cycle MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268517 MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342712 MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of energy metabolism MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of lysosomal amino acid transport -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 +MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 +MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026703 -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of biogenic amine metabolism and transport MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine or pyrimidine metabolism +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034139 -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 +MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10WHO:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037899 -MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751434 MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 +MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751434 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022797 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kufs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -30700,48 +30255,47 @@ MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:20420 MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052073 MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015289 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051316 MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263859 +MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051316 MONDO:0019266 SAPHO syndrome skos:closeMatch NCIT:C84530 Acquired Hyperostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired hyperostosis syndrome -MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020757 +MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 +MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 +MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020757 MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015280 -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 -MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020864 +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement MONDO:0019281 isolated genetic hair shaft abnormality skos:closeMatch Orphanet:79366 Isolated hair shaft abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hair shaft abnormality MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028684 MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated nail anomaly +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010452 -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 -MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin pigmentation disorder MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040868 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162819 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 +MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290008 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063493 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym junctional epidermolysis bullosa inversa MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-i MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 @@ -30751,119 +30305,117 @@ MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mas MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012812 MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024901 -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042111 MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 +MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042111 MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473574 MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0362030 MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263316 MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057053 -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263312 MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058917 -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263313 +MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263312 MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 +MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263313 MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary lymphangioma -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner syndrome +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gardner syndrome +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 +MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039486 -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 -MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boeck sarcoid -MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 +MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis +MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 +MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039710 -MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nanocephalic dwarfism MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bird-headed dwarfism MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seckel-type dwarfism +MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nanocephalic dwarfism MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265202 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609059 -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 +MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 +MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017915 +MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label shigellosis -MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement +MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 MONDO:0019346 sialidosis type 1 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomucopolysaccharidosis MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 MONDO:0019347 peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deciduous skin -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral gigantism MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral gigantism MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 +MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037889 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 +MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041524 -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855465 -MONDO:0019353 Stargardt disease skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 -MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855465 MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271093 +MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019353 Stargardt disease skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063402 MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265253 +MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063402 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085253 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058493 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058493 MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cervical spinal stenosis -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035793 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 +MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 +MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039137 MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035597 MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014979 -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036472 -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 +MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 +MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036472 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931872 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931872 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 -MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 +MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 +MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0458219 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064332 MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reflex sympathetic dystrophy -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10WHO:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10CM:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0281508 -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064581 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064581 +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0281508 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606937 MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847114 @@ -30871,33 +30423,33 @@ MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse en MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014053 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153064 MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014614 +MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153064 MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014059 MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014040 MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052369 -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393639 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto encephalitis +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393639 MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubella panencephalitis -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717757 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 +MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015625 MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015625 MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconi anemia MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi anemia -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406803 MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042926 +MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406803 MONDO:0019395 Hinman syndrome skos:exactMatch NCIT:C123206 Non-Neurogenic Neurogenic Bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-neurogenic neurogenic bladder -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751919 MONDO:0019399 Isaac syndrome skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement +MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751919 MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 +MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002876 @@ -30911,21 +30463,20 @@ MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteo MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615221 MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259750 MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502469 -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 +MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931171 -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NCIT:C119031 Systemic Juvenile Idiopathic Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C61278 Still Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label still disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NCIT:C119031 Systemic Juvenile Idiopathic Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NCIT:C119024 Enthesitis-Related Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enthesitis-related arthritis -MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis +MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 MONDO:0019438 AL amyloidosis skos:exactMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis +MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis -MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis +MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039811 MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221014 MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 @@ -30935,75 +30486,75 @@ MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma s MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044611 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 +MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023481 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 +MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023481 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067959 MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796466 -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 +MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067959 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 +MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038270 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334674 MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000879 -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myeloid leukaemia with myelodysplasia-related features MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292773 -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 +MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myeloid leukaemia with myelodysplasia-related features MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301357 +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NCIT:C82179 Mixed Phenotype Acute Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia +MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062113 MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349632 -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018852 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019350 +MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029460 -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025325 +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 -MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023494 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042985 -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065862 +MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 +MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065862 MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028811 +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001413 MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392788 MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065855 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0456889 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C150495 Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333984 MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066957 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphoma, subcutaneous panniculitis-like MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphoma, subcutaneous panniculitis-like +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphoma, subcutaneous panniculitis-like +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 @@ -31015,31 +30566,31 @@ MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260327 MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary bundle branch defect MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial progressive cardiac conduction defect -MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003650 MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206754 +MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-syndromic genetic deafness MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated genetic deafness MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0277356 -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 +MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bonnevie-ullrich syndrome MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C85210 XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa-deafness syndrome MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior segment ocular dysgenesis @@ -31049,168 +30600,167 @@ MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 MONDO:0019508 van der Woude syndrome skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lip-pit syndrome +MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604547 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604547 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175697 MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital non-syndromic heart malformation -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019156 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047216 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch NCIT:C8301 Veno-Occlusive Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label veno-occlusive disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019516 exudative vitreoretinopathy skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2700265 -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg-shah syndrome -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg-shah syndrome MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 +MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg-shah syndrome MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 +MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071575 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409999 -MONDO:0019530 non-syndromic syndactyly skos:closeMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly +MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071575 MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 +MONDO:0019530 non-syndromic syndactyly skos:closeMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618660 +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618660 -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272118 -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warm antibody autoimmune hemolytic anemia -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272080 +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272118 MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055019 -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 +MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272080 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053885 -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2242785 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0541719 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2242785 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 +MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral neuropathy and optic atrophy MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393807 +MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral neuropathy and optic atrophy MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panniculitis-induced localized lipodystrophy -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025141 MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024145 -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 +MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025141 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013072 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 +MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406636 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030327 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036420 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 +MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 +MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036420 MONDO:0019563 CREST syndrome skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crest syndrome MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limited cutaneous systemic scleroderma MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042974 MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047715 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130000 -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch NCIT:C135725 Cockayne Syndrome Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cockayne syndrome type a MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751039 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751038 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751038 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268350 -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263402 MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 +MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263402 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406660 MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked non-syndromic sensorineural deafness type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated neurosensory deafness type dfn -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant non-syndromic sensorineural deafness type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory deafness type dfna +MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural deafness type dfna MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant non-syndromic sensorineural deafness type dfna +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory deafness type dfna +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive non-syndromic sensorineural deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated neurosensory deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:603324 GJB3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:603324 GJB3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 MONDO:0019591 panhypopituitarism skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panhypopituitarism -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033662 MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242343 +MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033662 +MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043346 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048220 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043459 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 MONDO:0019609 Zellweger spectrum disorders skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017852 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043515 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346303 MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346304 -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242342 MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036297 +MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242342 MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290344 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019860 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019243 -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 +MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392775 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic medial necrosis of aorta MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392775 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059198 MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 -MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch NCIT:C161554 Persistent Hyperplastic Primary Vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 MONDO:0019632 Lyme disease skos:exactMatch NCIT:C86206 Borrelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label borrelia MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 +MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038300 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 +MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 +MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0859976 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036669 MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266294 @@ -31220,57 +30770,56 @@ MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238506 MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets MONDO:0019645 renal dysplasia, bilateral skos:exactMatch NCIT:C101313 Bilateral Renal Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bilateral renal dysplasia -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001079 MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066122 +MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001079 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016064 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia and premature pubarche MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612847 -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058902 +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia and premature pubarche MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 +MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058902 +MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 MONDO:0019669 hypochondrogenesis skos:exactMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondrogenesis MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887487 MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, beighton type +MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300267 MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliopathies with major skeletal involvement MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432238 MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label campomelic dysplasia and related disorders -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 +MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432238 MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002806 +MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002806 MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300205 MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968949 -MONDO:0019729 light and heavy chain deposition disease skos:exactMatch NCIT:C158965 Light and Heavy Chain Deposition Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238239 MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068240 -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527406 -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymyalgia rheumatica +MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 +MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527406 MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polymyalgia rheumatica MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268743 +MONDO:0019737 thrombotic microangiopathy skos:narrowMatch ICD10CM:M31.19 Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombotic microangiopathy semapv:RegularExpressionReplacement +MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043645 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717961 -MONDO:0019737 thrombotic microangiopathy skos:narrowMatch ICD10CM:M31.19 Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombotic microangiopathy semapv:RegularExpressionReplacement -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2584778 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857389 -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267073 MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072220 +MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267073 MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unicentric castleman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:377789 Malformation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malformation syndrome -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015088 +MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014588 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019760 terminal transverse defects of arm skos:exactMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal transverse defects of arm @@ -31280,33 +30829,33 @@ MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orph MONDO:0019773 myelomeningocele skos:exactMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelomeningocele MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002654 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 +MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 +MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017609 MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341305 MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning paraganglioma MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406594 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027849 +MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 +MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151467 MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010654 MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058328 @@ -31314,21 +30863,21 @@ MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066801 -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis spectrum +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044223 +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 +MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010656 MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired premature ovarian failure MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired premature ovarian failure MONDO:0019861 thyroid hypoplasia skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid hypoplasia MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065938 -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 +MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071015 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 +MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 8 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 @@ -31351,160 +30900,158 @@ MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 9 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265444 -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 9 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 +MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265444 MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 +MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 +MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch NCIT:C179703 Ring Chromosome 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 16 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mulchandani-bhoj-conlin syndrome +MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 16 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mulchandani-bhoj-conlin syndrome +MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mulchandani-bhoj-conlin syndrome MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617352 +MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym somatotropinoma +MONDO:0019928 48,XXXY syndrome skos:closeMatch NCIT:C89799 XXXY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxxy syndrome MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265498 MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048228 -MONDO:0019928 48,XXXY syndrome skos:closeMatch NCIT:C89799 XXXY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxxy syndrome -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265499 -MONDO:0019929 49,XXXXY syndrome skos:exactMatch NCIT:C185635 49,XXXXY Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome +MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001206 +MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000599 MONDO:0019933 acromegaly skos:closeMatch NCIT:C112834 Growth Hormone Excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone excess -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019934 polyploidy skos:exactMatch NCIT:C3338 Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 +MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 +MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058554 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013743 -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263610 MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041307 +MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263610 MONDO:0019946 ligneous conjunctivitis skos:exactMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ligneous conjunctivitis -MONDO:0019947 rippling muscle disease 2 skos:closeMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb-girdle muscular dystrophy type 1c MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606072 +MONDO:0019947 rippling muscle disease 2 skos:closeMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb-girdle muscular dystrophy type 1c MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270969 MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699743 MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 MONDO:0019951 rigid spine syndrome skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rigid spine syndrome -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062547 -MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement +MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement +MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062547 MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of pancreas MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 +MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014581 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018404 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 +MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 +MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 +MONDO:0019960 VIPoma skos:closeMatch NCIT:C3488 WDHA Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wdha syndrome +MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 -MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome -MONDO:0019960 VIPoma skos:closeMatch NCIT:C3488 WDHA Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wdha syndrome +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cholera MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchial neuroendocrine tumor MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064242 MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063585 MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 +MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029400 -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 -MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal face syndrome +MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow dwarfism -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch NCIT:C96182 Fibrillary Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrillary glomerulonephritis -MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch NCIT:C158968 Immunotactoid Glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037126 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037126 MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0597039 +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NCIT:C86031 XY Female semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xy female MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 -MONDO:0020040 46,XY disorder of sex development skos:closeMatch NCIT:C86031 XY Female semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xy female MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 +MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014316 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 -MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement MONDO:0020067 infectious encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 +MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0020075 genetic non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym monogenic obesity due to a leptin-melanocortin pathway anomaly -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028576 MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292778 +MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028576 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020082 dendritic cell tumor skos:closeMatch NCIT:C27260 Dendritic Cell Tumor, Not Otherwise Specified semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dendritic cell tumor, not otherwise specified MONDO:0020084 lymphoproliferative disease associated with primary immune disease skos:exactMatch NCIT:C150673 Lymphoproliferative Disease Associated with Primary Immune Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative disorder associated with primary immune disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271694 MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049287 +MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271694 MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877192 +MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049287 MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262483 MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 -MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, autoimmune hemolytic MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic +MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, autoimmune hemolytic -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037322 -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038184 +MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 +MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038184 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036062 +MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 +MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 +MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 +MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 +MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068836 MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270984 +MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068836 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751950 MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028003 MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 +MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028003 MONDO:0020144 cerebrovascular dementia skos:closeMatch Orphanet:98549 Rare cerebrovascular dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare cerebrovascular dementia MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315777 MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038457 @@ -31513,91 +31060,91 @@ MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Au MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046851 -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocardial cushion defect +MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular canal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064962 +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocardial cushion defect MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 +MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064962 MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050053 MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061080 MONDO:0020294 atrial defect and interatrial communication skos:closeMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare atrial defect and interatrial communication -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003226 MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 +MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003226 MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696898 MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023480 MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7463 Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045516 -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280141 MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856823 +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280141 +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045516 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023464 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023464 MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036710 -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch NCIT:C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary mediastinal (thymic) large b-cell lymphoma MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292754 +MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch NCIT:C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary mediastinal (thymic) large b-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069643 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 +MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 MONDO:0020326 lymphomatoid papulosis skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lyp -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272203 MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056452 -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056453 +MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272203 MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112486 -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023461 +MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056453 +MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056450 +MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023461 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast cell leukemia MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast cell leukemia -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 MONDO:0020338 adult pure red cell aplasia skos:closeMatch NCIT:C70548 Acquired Pure Red Cell Aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired pure red cell aplasia -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868720 -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postsynaptic congenital myasthenic syndromes MONDO:0020345 presynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label presynaptic congenital myasthenic syndromes MONDO:0020346 synaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synaptic congenital myasthenic syndromes MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052642 MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521573 MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym posterior polymorphous corneal dystrophy -MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos +MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos +MONDO:0020366 congenital glaucoma skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary congenital glaucoma MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmia +MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmus -MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020366 congenital glaucoma skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary congenital glaucoma MONDO:0020366 congenital glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064032 MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2981140 MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058653 -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0544008 MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168173 +MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0544008 MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059200 +MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168173 MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 @@ -31607,14 +31154,14 @@ MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early- MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 MONDO:0020381 patterned macular dystrophy skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165203 -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868705 MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066802 +MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868705 MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067407 MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267073 MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral pulmonary stenosis @@ -31623,21 +31170,21 @@ MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphane MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031303 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial atrioventricular septal defect -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521533 MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619199 MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272006 -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069495 MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272362 +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069495 MONDO:0020466 monosomy X skos:exactMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x -MONDO:0020479 pituitary gigantism skos:closeMatch NCIT:C93046 Gigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantism MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018265 +MONDO:0020479 pituitary gigantism skos:closeMatch NCIT:C93046 Gigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantism MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch NCIT:C129076 Molybdenum Cofactor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 MONDO:0020481 myotonia fluctuans skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans @@ -31645,165 +31192,156 @@ MONDO:0020482 myotonia permanens skos:exactMatch OMIM:608390 myotonia, potassium MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619542 -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343528 MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-hydroxylase deficiency -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-oxidase deficiency +MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343528 MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NCIT:C126813 Aldosterone Synthase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aldosterone synthase deficiency -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 9 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-oxidase deficiency +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-hydroxylase deficiency MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band heterotopia -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subcortical band heterotopia +MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 9 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label band heterotopia +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subcortical band heterotopia MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double cortex syndrome -MONDO:0020492 hemimegalencephaly skos:exactMatch NCIT:C177779 Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly +MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band heterotopia +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical laminar heterotopia MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431391 +MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haddad syndrome MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym haddad syndrome -MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haddad syndrome -MONDO:0020494 oculootodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculootodental syndrome MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750325 +MONDO:0020494 oculootodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculootodental syndrome MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617507 MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026822 MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024788 MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019099 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 +MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048240 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043395 -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 -MONDO:0020506 ovarioleukodystrophy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarioleukodystrophy MONDO:0020506 ovarioleukodystrophy skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847967 +MONDO:0020506 ovarioleukodystrophy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarioleukodystrophy MONDO:0020507 Cree leukoencephalopathy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cree leukoencephalopathy MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatocytic seminoma MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatocytic seminoma +MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatocytic seminoma MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334517 -MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma -MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thymic neuroendocrine carcinoma MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient neonatal diabetes mellitus MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 +MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient neonatal diabetes mellitus MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930924 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant dysgerminomatous germ cell tumor of the ovary -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018413 MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma +MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018413 MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maligant granulosa cell tumor of the ovary -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant sertoli-leydig cell tumor of the ovary -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343532 +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 +MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343532 MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044250 -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066260 MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066261 +MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066260 MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 +MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066261 MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067776 MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008493 MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349557 -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 +MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069682 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2721741 +MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym at/rt MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NCIT:C93268 Rhabdoid Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdoid tumor predisposition syndrome MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdoid tumor predisposition syndrome -MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym at/rt MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205825 MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205824 MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027031 -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007462 MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064335 +MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007462 MONDO:0020573 inherited disease susceptibility skos:closeMatch NCIT:C17939 Genetic Susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic susceptibility MONDO:0020583 chromosome 17 disorder skos:closeMatch NCIT:C129438 Chromosome 17 Abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17 abnormality semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020598 malabsorption syndrome skos:exactMatch NCIT:C113483 Malabsorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malabsorption -MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement -MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302960 -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 -MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism +MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome MONDO:0020607 Liddle syndrome 1 skos:closeMatch NCIT:C84827 Liddle Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618097 MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617829 MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 MONDO:0020639 monosomy skos:exactMatch NCIT:C3239 Monosomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy -MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoimmune encephalitis -MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis -MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch NCIT:C129732 Autosomal Dominant Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant osteopetrosis -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 MONDO:0020680 acute bronchiolitis skos:closeMatch NCIT:C39659 Acute Bronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute bronchiolitis MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C3715 AIDS Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids encephalopathy +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C2864 AIDS Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids dementia +MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C3715 AIDS Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids encephalopathy MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysplasia -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0020701 brachydactyly type A1A skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis MONDO:0020704 inherited rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch NCIT:C101214 Spina Bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 -MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement -MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xy sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch NCIT:C101214 Spina Bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400044 -MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265450 +MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146500 MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 MONDO:0020717 autosomal dominant woolly hair skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194300 @@ -31811,103 +31349,102 @@ MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMat MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3540852 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hereditary sideroblastic MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, x-linked MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hereditary sideroblastic MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate +MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha, type 25-hydroxyvitamin d3 deficiency, selective semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxycholecalciferol-1-hydroxylase deficiency +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MONDO:0020725 anemia due to chronic disorder skos:closeMatch NCIT:C35659 Anemia due to Chronic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia due to chronic disorder -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616045 -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220150 +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection -MONDO:0020732 progeria skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 -MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020732 progeria skos:exactMatch NCIT:C34951 Progeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement +MONDO:0020732 progeria skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria +MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing symphalangism -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym1 MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing symphalangism +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to aimah +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219080 -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair syndrome +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219080 +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair syndrome MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair syndrome -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 +MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 10 with or without ataxia, mental retardation, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616732 -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 +MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143880 MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 @@ -31916,9 +31453,9 @@ MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia sema MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221770 MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618193 MONDO:0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis MONDO:0020754 visceral myopathy skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal -MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155310 MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141500 @@ -31933,52 +31470,51 @@ MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropath MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607631 MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea +MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation with defective fucosylation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 skos:closeMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgf -MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 skos:closeMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation with defective fucosylation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl -MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617186 MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkes weber syndrome -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618196 +MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, seizures, and mental retardation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251290 -MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607313 MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann +MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607313 +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618908 MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618883 +MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst +MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst -MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dentigerous cyst -MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601680 MONDO:0020835 methemoglobinemia, alpha type skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617973 MONDO:0020838 anterior nasal diphtheria skos:closeMatch NCIT:C34542 Anterior Nasal Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior nasal diphtheria @@ -32002,74 +31538,73 @@ MONDO:0020920 escherichia coli infection skos:closeMatch NCIT:C34594 Escherichia MONDO:0020920 escherichia coli infection skos:closeMatch NCIT:C34594 Escherichia Coli Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label escherichia coli infection MONDO:0020920 escherichia coli infection skos:closeMatch NCIT:C34594 Escherichia Coli Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label escherichia coli infection MONDO:0020971 gonococcal urethritis skos:closeMatch NCIT:C26787 Gonococcal Urethritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonococcal urethritis -MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal granuloma -MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal granuloma MONDO:0020974 laryngeal granuloma skos:closeMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal granuloma MONDO:0020974 laryngeal granuloma skos:closeMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal granuloma +MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal granuloma +MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal granuloma MONDO:0020977 granulomatous prostatitis skos:closeMatch NCIT:C26789 Granulomatous Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulomatous prostatitis MONDO:0020977 granulomatous prostatitis skos:closeMatch NCIT:C26789 Granulomatous Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulomatous prostatitis MONDO:0020983 myocardial rupture skos:closeMatch NCIT:C34668 Cardiac Rupture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac rupture MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin +MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of hfe-related hereditary hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235200 -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:narrowMatch ICD10CM:E83.118 Other hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis semapv:RegularExpressionReplacement -MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label symptomatic form of hemochromatosis type 1 MONDO:0021001 hemochromatosis type 1 skos:exactMatch NCIT:C82892 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 -MONDO:0021002 syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly +MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label symptomatic form of hemochromatosis type 1 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039075 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 +MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 +MONDO:0021002 syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 +MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog-scott syndrome -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia +MONDO:0021005 faciodigitogenital syndrome skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118700 MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608207 -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amish brittle hair brain syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair-brain syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy-neurocutaneous syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, nonphotosensitive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amish brittle hair brain syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234050 +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, nonphotosensitive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501858 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1d MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1d -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300500 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342684 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 +MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300500 +MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342684 +MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057034 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 MONDO:0021022 hereditary hyperekplexia skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611162 +MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial +MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial -MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial -MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial MONDO:0021032 herpes zoster with dermatitis of eyelid skos:closeMatch NCIT:C34696 Herpes Zoster Dermatitis of Eyelid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes zoster dermatitis of eyelid MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203650 MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 MONDO:0021040 pancreatic neoplasm skos:closeMatch NCIT:C12393 Pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 +MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 MONDO:0021047 breast phyllodes tumor skos:exactMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the breast MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006007 @@ -32077,77 +31612,71 @@ MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:L MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032580 MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenomatous polyposis of the colon MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gardner syndrome -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, adenomatous intestinal -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial adenomatous polyposis, attenuated +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, adenomatous intestinal MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis coli, attenuated +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gardner syndrome MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch NCIT:C6728 Gardner Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis coli, attenuated MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon -MONDO:0021061 neurofibromatosis skos:closeMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurofibromatosis type 2 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch NCIT:C6728 Gardner Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement +MONDO:0021061 neurofibromatosis skos:closeMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurofibromatosis type 2 MONDO:0021063 malignant colon neoplasm skos:exactMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colon cancer MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch NCIT:C3060 Glomus Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with nmda receptor antibodies -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anti-nmda receptor encephalitis -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-nmda receptor encephalitis -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with n-methyl-d-aspartate receptor antibodies -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218330 MONDO:0021094 immunodeficiency disease skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome MONDO:0021094 immunodeficiency disease skos:exactMatch NCIT:C39725 Immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027404 MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 -MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy -MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy +MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027404 MONDO:0021113 respiratory failure skos:closeMatch NCIT:C27043 Acute Respiratory Failure semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute respiratory failure MONDO:0021117 lung neoplasm skos:closeMatch NCIT:C12468 Lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung -MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female infertility +MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility MONDO:0021125 disease characteristic skos:exactMatch NCIT:C27992 Disease Qualifier semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder qualifier semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021129 microphthalmia skos:closeMatch NCIT:C98989 Microphthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label microphthalmos MONDO:0021129 microphthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nanophthalmos MONDO:0021137 not rare skos:exactMatch NCIT:C43461 Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common MONDO:0021140 congenital skos:exactMatch NCIT:C99210 Congenital semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital MONDO:0021141 acquired skos:exactMatch NCIT:C85869 Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired -MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021148 female reproductive system neoplasm skos:closeMatch Orphanet:98063 Rare gynecological tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017416 -MONDO:0021152 inherited skos:closeMatch NCIT:C27998 Hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary -MONDO:0021152 inherited skos:exactMatch NCIT:C28018 Inherited semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited MONDO:0021152 inherited skos:closeMatch NCIT:C17938 Genetic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic -MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021152 inherited skos:exactMatch NCIT:C28018 Inherited semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited +MONDO:0021152 inherited skos:closeMatch NCIT:C27998 Hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement -MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermis disorder semapv:RegularExpressionReplacement MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder +MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermis disorder semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement MONDO:0021156 hypophysitis skos:exactMatch NCIT:C121147 Hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophysitis MONDO:0021162 carotenemia skos:exactMatch NCIT:C26963 Carotenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carotenemia MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis -MONDO:0021187 hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 -MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperlipidemia -MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperlipidemia +MONDO:0021187 hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021203 serous otitis media skos:exactMatch NCIT:C34886 Secretory Otitis Media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secretory otitis media MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal/paraganglial tumor MONDO:0021281 cavernous hemangioma of retina skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 @@ -32164,30 +31693,28 @@ MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Au MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-autoimmune hemolytic anemia MONDO:0021562 omphalitis skos:closeMatch NCIT:C116008 Omphalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalitis MONDO:0021568 renal tubule disorder skos:closeMatch Orphanet:93603 Rare renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151747 +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloilioperoneal atrophy with cardiopathy +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 +MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sclerosis, susceptibility to MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sclerosis, susceptibility to -MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616780 MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617712 MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617743 -MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary brain neoplasm -MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary brain neoplasm -MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma MONDO:0021636 astrocytic tumor skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym astrocytoma MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly +MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 MONDO:0021651 synpolydactyly skos:exactMatch NCIT:C125597 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly +MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 +MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian sex cord tumor with annular tubules MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1395264 MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001650 @@ -32195,15 +31722,15 @@ MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcino MONDO:0021667 neuralgia skos:exactMatch NCIT:C79695 Neuralgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuralgia MONDO:0021667 neuralgia skos:exactMatch NCIT:C79695 Neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgia MONDO:0021718 polyneuritis skos:closeMatch NCIT:C26864 Polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuritis -MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement +MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vaginismus MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus MONDO:0021736 proctosigmoiditis skos:closeMatch NCIT:C34950 Proctosigmoiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proctosigmoiditis -MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement -MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement +MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement +MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021750 pyonephrosis skos:closeMatch NCIT:C123032 Pyonephrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyonephrosis MONDO:0021765 radiculitis skos:closeMatch NCIT:C78581 Radiculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiculitis MONDO:0021777 acute rheumatic heart disease skos:closeMatch NCIT:C34985 Acute Rheumatic Heart Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute rheumatic heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -32225,8 +31752,8 @@ MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary He MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lobular capillary hemangioma MONDO:0022103 chronic prostatitis skos:closeMatch NCIT:C26930 Chronic Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic prostatitis MONDO:0022103 chronic prostatitis skos:closeMatch NCIT:C26930 Chronic Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic prostatitis -MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central centrifugal cicatricial alopecia MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central centrifugal cicatricial alopecia +MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central centrifugal cicatricial alopecia MONDO:0022174 chromosome 12p deletion skos:closeMatch NCIT:C36410 Loss of Chromosome 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 12p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022180 chromosome 16 trisomy skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022180 chromosome 16 trisomy skos:closeMatch NCIT:C37866 Trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -32235,7 +31762,6 @@ MONDO:0022293 vascular disorder of penis skos:closeMatch NCIT:C35218 Penile Vasc MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corticobasal syndrome MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair defect with photosensitivity and mental retardation MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hair defect with photosensitivity and mental retardation -MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical intraepithelial neoplasia MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia MONDO:0022430 persistent fetal circulation syndrome skos:narrowMatch ICD10CM:P29.38 Other persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym persistent fetal circulation semapv:RegularExpressionReplacement @@ -32247,14 +31773,12 @@ MONDO:0022636 candida glabrata infection skos:exactMatch NCIT:C77179 Candida gla MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022754 chromosome 17p deletion skos:closeMatch NCIT:C36499 Loss of Chromosome 17p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 17p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 20 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022757 chromosome 20 trisomy skos:closeMatch NCIT:C36397 Trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 20 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022759 trisomy 22 skos:exactMatch NCIT:C114765 Trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym delta-1-pyrroline-5-carboxylate dehydrogenase deficiency MONDO:0022968 dextrocardia with situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs inversus totalis -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0023023 neonatal dacryocystitis skos:closeMatch NCIT:C116819 Neonatal Dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal dacryocystitis MONDO:0023023 neonatal dacryocystitis skos:closeMatch NCIT:C116819 Neonatal Dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal dacryocystitis MONDO:0023038 eccentrochondrodysplasia skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 @@ -32269,17 +31793,13 @@ MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C128381 Viral Myocarditis s MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C128381 Viral Myocarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral myocarditis MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931412 MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label functioning neuroendocrine tumor of pancreas -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder ic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder ic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931468 @@ -32292,11 +31812,9 @@ MONDO:0023554 acquired testicular failure skos:closeMatch NCIT:C131091 Acquired MONDO:0023554 acquired testicular failure skos:closeMatch NCIT:C131091 Acquired Testicular Failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired testicular failure MONDO:0023557 infective vaginitis skos:closeMatch NCIT:C84353 Vaginal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vaginal infection MONDO:0023557 infective vaginitis skos:closeMatch NCIT:C84353 Vaginal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vaginal infection -MONDO:0023595 congenital myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410226 MONDO:0023595 congenital myotonic dystrophy skos:closeMatch NCIT:C123308 Congenital Myotonic Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital myotonic dystrophy +MONDO:0023595 congenital myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410226 MONDO:0023595 congenital myotonic dystrophy skos:closeMatch NCIT:C123308 Congenital Myotonic Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital myotonic dystrophy -MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal papillomatosis -MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal papillomatosis MONDO:0023599 mesomelic dysplasia skos:closeMatch NCIT:C121156 Mesomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia MONDO:0023599 mesomelic dysplasia skos:closeMatch NCIT:C121156 Mesomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia MONDO:0023603 hereditary disorder of connective tissue skos:closeMatch NCIT:C97075 Hereditary Connective Tissue Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary connective tissue disorder @@ -32310,108 +31828,108 @@ MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paragan MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tympanic paraganglioma MONDO:0023820 Moebius axonal neuropathy hypogonadism skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 MONDO:0023880 WHIM syndrome skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome -MONDO:0023910 Martsolf syndrome skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome +MONDO:0023910 Martsolf syndrome skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0024245 ductal eccrine adenocarcinoma skos:closeMatch NCIT:C54664 Hidradenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenocarcinoma MONDO:0024249 pityriasis lichenoides skos:closeMatch NCIT:C37871 Pityriasis Lichenoides et Varioliformis Acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides et varioliformis acuta MONDO:0024251 Minamata disease skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minamata disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid, ectopic MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athyreotic hypothyroidism MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to thyroid dysgenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, athyreotic MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid agenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid, ectopic -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, athyreotic +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia -MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs +MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs +MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:603154 PNN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617039 -MONDO:0024275 amebic dysentery skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label amoebiasis due to entamoeba histolytica MONDO:0024275 amebic dysentery skos:closeMatch NCIT:C34558 Amebic Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amebic colitis -MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal thrombocytopenia +MONDO:0024275 amebic dysentery skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label amoebiasis due to entamoeba histolytica MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal thrombocytopenia +MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal thrombocytopenia MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbilirubinemia MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperbilirubinemia -MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular malformation MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular malformation +MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular malformation MONDO:0024295 skin disease caused by bacterial infection skos:closeMatch NCIT:C157794 Bacterial Skin Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bacterial skin disorder semapv:RegularExpressionReplacement MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets +MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ichthyosis vulgaris +MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis vulgaris -MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis vulgaris -MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ichthyosis vulgaris MONDO:0024305 acquired hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia -MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia +MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0024306 acquired lactic acidosis skos:closeMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactic acidosis MONDO:0024307 prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prothrombin deficiency -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoxanthoma elasticum +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory radicular, autosomal recessive +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morvan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, progressive sensory, of children +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201300 -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory radicular, autosomal recessive MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morvan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic MONDO:0024361 circadian rhythm sleep disorder skos:narrowMatch ICD10CM:G47.29 Other circadian rhythm sleep disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym circadian rhythm sleep disorder semapv:RegularExpressionReplacement MONDO:0024422 auditory perceptual disorders skos:closeMatch NCIT:C84575 Auditory Perceptual Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label auditory perceptual disorder -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma iridogoniodysplasia, familial +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma iridogoniodysplasia, familial MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris hypoplasia with glaucoma +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroaxonal dystrophy, infantile -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, autosomal recessive -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, with normal karyotype MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic +MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, with normal karyotype MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis +MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, autosomal recessive MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233300 MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832284 -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601471 +MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601471 +MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832284 MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 +MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 +MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14161 Low Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label low grade MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14171 Well Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label well differentiated @@ -32419,40 +31937,40 @@ MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C14162 MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C28083 Intermediate Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermediate grade MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C14167 Poorly Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poorly differentiated MONDO:0024494 tumor grade 4, general grading system skos:exactMatch NCIT:C14176 Undifferentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label undifferentiated -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligodendroglioma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subependymoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioma of brain, familial -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3288 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3017 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C2915 Carcinoid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumor +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gep-nen +MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C2915 Carcinoid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumor MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digestive system neuroendocrine tumor MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serotonin-producing neuroendocrine tumor of pancreas -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with terminal transverse limb defects -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100300 MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 @@ -32463,252 +31981,252 @@ MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 se MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal aplasia MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal adysplasia MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary renal aplasia +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal aplasia MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch NCIT:C99041 Renal Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal aortic aneurysm -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal aortic aneurysm MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, abdominal aortic +MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal aortic aneurysm +MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 +MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal aortic aneurysm MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial cutaneous lichen MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen amyloidosis, familial MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, bicuspid MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic stenosis, calcific -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, bicuspid -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, calcification of +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve -MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, calcification of MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127500 -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult fanconi syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi syndrome without cystinosis -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi renotubular syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal fanconi syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi syndrome without cystinosis +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luder-sheldon syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi renotubular syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135500 +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135500 +MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157640 -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, familial +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barlow syndrome MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, myxomatous type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym click-murmur syndrome -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barlow syndrome -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floppy mitral valve +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, familial MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous valvular disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157700 -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, benign congenital +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floppy mitral valve MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, benign congenital MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, benign congenital, with contractures -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubular aggregate myopathy -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160565 +MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy +MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160565 MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166780 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, fenfluramine-associated -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, dexfenfluramine-associated MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph1 with hht +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1, with hereditary hemorrhagic telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, dexfenfluramine-associated -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179850 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179850 MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182250 +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NCIT:C123727 Familial Glucocorticoid Deficiency Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202200 MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal unresponsiveness to acth -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth resistance MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbar palsy, progressive, with sensorineural deafness MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontobulbar palsy with deafness MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213600 -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, autosomal dominant, adult-onset +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213600 +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fahr disorder, familial, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferrocalcinosis, cerebrovascular -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral +MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215500 -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, syndromic -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, fatal infantile, with trichorrhexis nodosa +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym the syndrome -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysequilibrium syndrome -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq1 +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, fatal infantile, with trichorrhexis nodosa +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, syndromic +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital, and mental retardation, autosomal recessive -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq1 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysequilibrium syndrome +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragilitas oculi with joint hyperextensibility -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229200 +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850808 -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial idiopathic osteoarthropathy of childhood +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioosteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial idiopathic osteoarthropathy of childhood +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioosteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolysis exfoliativa congenita MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin peeling, familial continuous generalized +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmd MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305620 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infectious mononucleosis, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus infection, familial fatal +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebv infection, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infectious mononucleosis, severe, susceptibility to +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309801 MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, dermal aplasia, and sclerocornea -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with linear skin defects MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, dermal aplasia, and sclerocornea +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with linear skin defects MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600462 -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia +MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia +MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600721 +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der knaap disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvm MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with swelling and cysts MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der knaap disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604004 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvm -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with variable foci +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci +MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with variable foci MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 +MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rusat MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, congenital, with radioulnar synostosis -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, thoracic aortic MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, thoracic aortic +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 -MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607411 +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607411 +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitelliform macular dystrophy, adult-onset -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608161 -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome, congenital MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus rhythm, congenital absence of -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome, congenital MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610551 -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coats plus syndrome +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613573 MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614418 -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615419 MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihprf +MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615419 MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615438 MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616648 MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617343 @@ -32716,11 +32234,11 @@ MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:9973 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024575 pregnancy disorder skos:closeMatch NCIT:C34941 Pregnancy Complication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pregnancy complication MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with cataracts and intellectual disability MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with cataracts and intellectual disability @@ -32729,36 +32247,36 @@ MONDO:0024636 inflammation of heart layer skos:exactMatch NCIT:C168128 Carditis MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant soft tissue tumor MONDO:0024664 hypertension, pregnancy-induced skos:closeMatch NCIT:C4371 Gestational Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational hypertension MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertension, pregnancy-induced -MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinoma tumor suppressor gene locus MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinoma tumor suppressor gene locus +MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinoma tumor suppressor gene locus MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 -MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type giant cell tumor +MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039106 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type gct MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type giant cell tumor +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301074 MONDO:0024954 larva migrans, visceral skos:closeMatch NCIT:C34758 Visceral Larva Migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral larva migrans -MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834014 +MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngodistal myopathy MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngodistal myopathy -MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngodistal myopathy -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834014 MONDO:0025303 anaplasmosis skos:exactMatch NCIT:C128425 Anaplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplasmosis MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301058 MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 MONDO:0025382 sarcoma, avian skos:closeMatch NCIT:C17466 Rous Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rous sarcoma MONDO:0025419 furunculosis skos:closeMatch NCIT:C99087 Furuncle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label furuncle MONDO:0025487 murine acquired immunodeficiency syndrome skos:closeMatch NCIT:C17375 Murine AIDS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine aids -MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C131469 Bovine Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine leukemia MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C134767 Bovine Lymphosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine lymphosarcoma +MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C131469 Bovine Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine leukemia MONDO:0025511 inherited neuroendocrine tumor skos:closeMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic neuroendocrine tumor MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis with summer ulcerations MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1561989 @@ -32767,10 +32285,10 @@ MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch Orphanet:1465 Coffin-Siri MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619351 MONDO:0025712 angioedema, hereditary, 4 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619360 MONDO:0025713 angioedema, hereditary, 7 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619366 -MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 @@ -32778,113 +32296,106 @@ MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatc MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder, x-linked, with craniofacial abnormalities MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullegama-klein-martinez syndrome -MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paganini-miozzo syndrome +MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paganini-miozzo syndrome +MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paganini-miozzo syndrome MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301028 +MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shukla-vernon syndrome MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shukla-vernon syndrome -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch OMIM:301032 basilicata-akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:closeMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with marfanoid habitus, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wieacker-wolff syndrome, female-restricted MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wieacker-wolff syndrome, female-restricted MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 +MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 MONDO:0026765 congenital disorder of glycosylation, type IIr skos:closeMatch OMIM:301045 congenital disorder of glycosylation, iia iir semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iir +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026777 VEXAS syndrome skos:exactMatch NCIT:C181924 VEXAS Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 MONDO:0027026 Buschke Lowenstein tumor skos:closeMatch NCIT:C6371 Giant Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant condyloma acuminatum MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch NCIT:C186788 Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617403 MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617402 MONDO:0027652 5-fluorouracil toxicity skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 5-fluorouracil toxicity -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis due to pujo -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch NCIT:C99007 Pelviureteric Junction Obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelviureteric junction obstruction -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicystic renal dysplasia, bilateral MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureteropelvic junction obstruction +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicystic renal dysplasia, bilateral MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelviureteric junction obstruction -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis due to pujo +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch NCIT:C99007 Pelviureteric Junction Obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelviureteric junction obstruction MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617839 +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia -MONDO:0029000 poisoning skos:exactMatch NCIT:C34933 Poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poisoning MONDO:0029000 poisoning skos:closeMatch NCIT:C28283 Intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intoxication +MONDO:0029000 poisoning skos:exactMatch NCIT:C34933 Poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poisoning MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618123 MONDO:0029132 Liddle syndrome 3 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618126 MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618129 MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618138 +MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618145 -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618145 MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mto deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis with dimethylsulfoxiduria MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis due to methanethiol oxidase deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis with dimethylsulfoxiduria MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extraoral halitosis due to methanethiol oxidase deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency -MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft type 51p with or without cleft palate, nonsyndromic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft type 51p with or without cleft palate, nonsyndromic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618149 -MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 skos:exactMatch OMIM:617863 intellectual developmental disorder, autosomal dominant 69 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618841 +MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618853 MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618906 MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618913 MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618914 +MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618918 MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618920 @@ -32894,8 +32405,8 @@ MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher- MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618948 MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618955 MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 -MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitchell syndrome +MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618961 MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618845 MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618856 @@ -32938,6 +32449,8 @@ MONDO:0030430 spermatogenic failure 56 skos:closeMatch Orphanet:399805 Male infe MONDO:0030436 anemia, sideroblastic, 5 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619523 MONDO:0030439 spermatogenic failure 57 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619528 MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619531 +MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:closeMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 118, with cochlear aplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia skos:closeMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 118, with cochlear aplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030453 developmental and epileptic encephalopathy 97 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619561 MONDO:0030454 Joubert syndrome 39 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619562 MONDO:0030462 Joubert syndrome 40 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619582 @@ -32947,9 +32460,9 @@ MONDO:0030471 Galloway-Mowat syndrome 9 skos:closeMatch Orphanet:2065 Galloway-M MONDO:0030472 developmental and epileptic encephalopathy 98 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619605 MONDO:0030473 developmental and epileptic encephalopathy 99 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619606 MONDO:0030476 Galloway-Mowat syndrome 10 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619609 -MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619555 MONDO:0030492 spermatogenic failure 59 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619645 MONDO:0030493 spermatogenic failure 60 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619646 @@ -32970,8 +32483,8 @@ MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or sev MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619482 MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619483 MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 -MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030608 interstitial lung disease 1 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619611 MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome @@ -32986,14 +32499,16 @@ MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch Orphanet:98897 Ocul MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619795 MONDO:0030716 spermatogenic failure 66 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 MONDO:0030718 spermatogenic failure 67 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 -MONDO:0030719 deafness, autosomal dominant 82 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch OMIM:619804 deafness, autosomal dominant 82 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch OMIM:619804 deafness, autosomal dominant 82 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 MONDO:0030721 spermatogenic failure 68 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619813 MONDO:0030727 developmental and epileptic encephalopathy 101 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619814 MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619825 @@ -33009,12 +32524,8 @@ MONDO:0030781 restrictive dermopathy 2 skos:closeMatch Orphanet:1662 Restrictive MONDO:0030797 retinitis pigmentosa 93 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619845 MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619849 MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619041 -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement MONDO:0030809 spermatogenic failure 72 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619868 MONDO:0030818 spermatogenic failure 73 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 @@ -33028,8 +32539,8 @@ MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619101 MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619102 MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619108 -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 +MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619099 MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619115 MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619120 @@ -33044,70 +32555,70 @@ MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal domin MONDO:0030868 spermatogenic failure 49 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619144 MONDO:0030869 spermatogenic failures 50 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619145 MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619132 -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 +MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 MONDO:0030878 Kaya-Barakat-Masson syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619125 MONDO:0030881 developmental and epileptic encephalopathy 102 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619881 MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 MONDO:0030886 holoprosencephaly 14 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619895 MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619897 -MONDO:0030894 AMED syndrome, digenic skos:exactMatch NCIT:C185246 AMeD Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 +MONDO:0030894 AMED syndrome, digenic skos:exactMatch NCIT:C185246 AMeD Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619155 MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619148 MONDO:0030897 Lessel-Kreienkamp syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619149 MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619165 MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619170 -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619174 MONDO:0030907 intellectual disability, X-linked 106 skos:closeMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs35 -MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxshg MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301008 -MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxshg MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd45 +MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd46 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617635 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd47 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd48 +MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617751 MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931130 -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch OMIM:617752 clark-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser syndrome -MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alwadei syndrome -MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt61 +MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alwadei syndrome MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd50 MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd51 -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd52 MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617796 -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617798 -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd53 +MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd52 +MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch OMIM:617798 intellectual developmental disorder, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd53 +MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617798 +MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd54 MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617799 -MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd54 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617831 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd55 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 55, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd56 +MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619176 @@ -33123,63 +32634,19 @@ MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:closeMatch MONDO:0030938 spermatogenic failure 52 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619202 MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619209 MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619173 -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030957 developmental and epileptic encephalopathy 103 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619913 -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia type 35, childhood-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030961 Olmsted syndrome 2 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619208 MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619201 -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619931 -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 106, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ifnar1 deficiency MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619220 -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030972 spermatogenic failure 74 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619224 -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 +MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 MONDO:0030977 neuropathy, hereditary motor, with myopathic features skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619217 MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619218 -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030983 Waardenburg syndrome, IIa 2F skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619947 -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg syndrome, iia type 2f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030984 spermatogenic failure 75 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 MONDO:0030989 spermatogenic failure 53 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619258 MONDO:0030991 bile acid conjugation defect 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619232 @@ -33187,10 +32654,10 @@ MONDO:0030994 neurodevelopmental disorder with or without autism or seizures sko MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619243 MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619271 MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619272 -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna80 MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna80 MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619244 MONDO:0031002 Baralle-Macken syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619256 @@ -33198,229 +32665,137 @@ MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619263 MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619267 MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619264 -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 87, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031021 developmental and epileptic encephalopathy 104 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619970 -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 105 with hypopituitarism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis, isolated low-ggt +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620010 -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central conducting lymphatic anomaly -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphatic malformation type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620015 -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label advance sleep phase syndrome, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis, distal, iia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031045 arthrogryposis, distal, IIa 11 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620019 -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031047 stickler syndrome, IIa 6 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620022 -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620032 -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031055 developmental and epileptic encephalopathy 107 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620033 -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskeratosis congenita, digenic MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620040 -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyskeratosis congenita, digenic -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskeratosis congenita, digenic -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly type 29, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031062 polycystic kidney disease 7 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620056 -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polycystic kidney disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diamond-blackfan anemia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatogenic failure type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, iia type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031169 odontochondrodysplasia skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia MONDO:0031213 restrictive dermopathy skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein iib-iiia deficiency MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein iib-iiia deficiency MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273800 -MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch NCIT:C126746 Congenital Disorder of Deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of deglycosylation -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome +MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch NCIT:C126746 Congenital Disorder of Deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607748 MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 +MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607748 MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614231 MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618009 MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement +MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618154 -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, external, with rib and vertebral anomalies MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, external, with rib and vertebral anomalies MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with low cholesterol and abnormal urine organic acids -MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squalene synthase deficiency MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squalene synthase deficiency -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism of sindh +MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squalene synthase deficiency MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 +MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism of sindh MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032569 isolated growth hormone deficiency, type 5 skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618160 MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618161 -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac, facial, and digital anomalies with developmental delay -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac, facial, and digital anomalies with developmental delay MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondrodysplasia, brachydactyly, and overlapping malformed digits MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrodysplasia, brachydactyly, and overlapping malformed digits -MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg-cinotti syndrome MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg-cinotti syndrome MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618176 MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618177 MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618178 -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618179 MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 24, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch OMIM:618179 microcephaly 24, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 24, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618179 MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618183 MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618185 -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch OMIM:618185 periventricular nodular heterotopia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618188 -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 +MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder and retinitis pigmentosa MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder and retinitis pigmentosa MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618195 MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618197 MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618198 -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618198 MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-campeau syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618205 MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618205 MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618213 MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618219 MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 +MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 +MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies and variable endocrine and t-cell dysfunction MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral anomalies and variable endocrine and t-cell dysfunction -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 +MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 +MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 +MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 +MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 +MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618232 -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 +MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618234 MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618235 MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618236 @@ -33443,82 +32818,81 @@ MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatc MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618252 MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618253 MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 +MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618264 +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 +MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 -MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoneurodevelopmental syndrome MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoneurodevelopmental syndrome +MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoneurodevelopmental syndrome MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618275 MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618275 -MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with cerebellar atrophy -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis, neurodegeneration, and cerebral angiomatosis +MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis, neurodegeneration, and cerebral angiomatosis -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-urogenital syndrome +MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-urogenital syndrome +MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-urogenital syndrome MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visual impairment and progressive phthisis bulbi MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visual impairment and progressive phthisis bulbi +MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visual impairment and progressive phthisis bulbi MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with mental retardation -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with impaired intellectual development MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly, acquired, with impaired intellectual development +MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with impaired intellectual development +MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with mental retardation MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous ulceration, chronic MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucocutaneous ulceration, chronic -MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618292 +MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia -MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 -MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 +MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618309 -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 +MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with cardiac defects and dysmorphic facies -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618323 @@ -33531,67 +32905,67 @@ MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orp MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay with or without impaired intellectual development MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay with or without impaired intellectual development +MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay with or without impaired intellectual development MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618330 MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with episodic rhabdomyolysis -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagei syndrome -MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development -MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth deficiency, seizures, and brain malformations MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth deficiency, seizures, and brain malformations MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618347 -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618348 MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618349 -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618351 -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mowat syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618351 MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618353 -MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder and language delay with or without structural brain abnormalities +MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 +MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618367 -MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocardioskeletal syndrome -MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turnpenny-fry syndrome +MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turnpenny-fry syndrome -MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turnpenny-fry syndrome +MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocardioskeletal syndrome MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618381 -MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate @@ -33601,80 +32975,80 @@ MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch OMIM:6 MONDO:0032723 immunodeficiency 60 skos:closeMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and autoimmunity, bach2-related MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618395 MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618397 MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618397 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 +MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with impaired intellectual development and progressive ataxia -MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay, progressive ataxia, and elevated glutamine -MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618415 -MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression +MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 80, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618418 spastic paraplegia 80, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 80, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:closeMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy -MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618422 -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618422 MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired speech and hyperkinetic movements -MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 +MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with variable intellectual impairment and behavioral abnormalities +MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618430 -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with variable intellectual impairment and behavioral abnormalities +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618431 -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618432 -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618432 +MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618434 MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 -MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without variable brain abnormalities MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without variable brain abnormalities -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 -MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:exactMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 -MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with or without dysmorphic facies and autism @@ -33682,159 +33056,157 @@ MONDO:0032760 developmental delay with or without dysmorphic facies and autism s MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618456 -MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3k syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label khan-khan-katsanis syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym khan-khan-katsanis syndrome -MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3k syndrome -MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 +MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein a-i deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618464 +MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch NCIT:C179296 Developmental and Epileptic Encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with severe speech and ambulation defects -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618470 -MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects +MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with severe speech and ambulation defects MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618475 -MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain abnormalities, neurodegeneration, and dysosteosclerosis +MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain abnormalities, neurodegeneration, and dysosteosclerosis +MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine-cytidineuria MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine-cytidineuria MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar, ocular, craniofacial, and genital syndrome MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar, ocular, craniofacial, and genital syndrome -MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and speech and walking impairment MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and speech and walking impairment -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618481 -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and speech and walking impairment MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch OMIM:618481 deafness, autosomal recessive 99 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618481 MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618482 MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 -MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly and structural brain anomalies -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +MONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies skos:closeMatch OMIM:618492 neurodevelopmental disorder with microcephaly and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch OMIM:618493 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hypotonia, epilepsy, developmental delay, and digital anomalies -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd122 deficiency -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd122 deficiency MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, beta, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618498 -MONDO:0032786 Noonan syndrome 11 skos:exactMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 -MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 +MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy with seizures and variable developmental delay MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy with seizures and variable developmental delay -MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 +MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618513 MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618513 MONDO:0032795 intellectual developmental disorder 59 skos:closeMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with tremor MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myogenic tremor -MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features +MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618535 MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypopigmentation, organomegaly, and delayed myelination and development MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation, organomegaly, and delayed myelination and development -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with visual defects and brain anomalies +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with visual defects and brain anomalies +MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 -MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis, fulminant viral, susceptibility to MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatitis, fulminant viral, susceptibility to +MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis, fulminant viral, susceptibility to MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618555 MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathy and leukoencephalopathy, pontine, autosomal dominant -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 -MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with ataxia, hypotonia, and microcephaly -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cerebellar hypoplasia and spasticity MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cerebellar hypoplasia and spasticity -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone resistance, generalized -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone resistance, generalized +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 congenital myopathy 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, progressive, with scoliosis MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618587 MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 60, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618587 MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies, seizures, and scoliosis -MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies, seizures, and scoliosis +MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia and axial hypotonia, progressive MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia and axial hypotonia, progressive MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sod1 deficiency, autosomal recessive MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities -MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-fisher syndrome +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 -MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q15 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies +MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies +MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:closeMatch OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q15 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower urinary tract obstruction, congenital MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch OMIM:618612 lower urinary tract obstruction, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower urinary tract obstruction, congenital MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618612 -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch OMIM:618613 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618613 MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weiss-kruszka syndrome @@ -33845,17 +33217,16 @@ MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032839 noonan syndrome 12 skos:exactMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 MONDO:0032839 noonan syndrome 12 skos:closeMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618632 -MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, developmental delay, and poor growth MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siddiqi syndrome +MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, developmental delay, and poor growth MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618641 MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -33865,68 +33236,68 @@ MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:close MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch OMIM:618651 halperin-birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurooculocardiogenitourinary syndrome MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurooculocardiogenitourinary syndrome -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with impaired language and dysmorphic facies MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with impaired language and dysmorphic facies -MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple structured core disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with structured cores and z-line abnormalities -MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple structured core disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618658 -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618659 MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intractable diarrhea of infancy syndrome +MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618659 MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618662 +MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intractable diarrhea of infancy syndrome +MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:closeMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital communicating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, autism, and dysmorphic facies -MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lessel-kubisch syndrome MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lessel-kubisch syndrome MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618683 -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and behavioral abnormalities -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and behavioral abnormalities MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618687 -MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and behavioral abnormalities +MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and behavioral abnormalities MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 +MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and microcephaly with genital anomalies MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and microcephaly with genital anomalies -MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with absent language and variable seizures -MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with absent language and variable seizures MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ito-raymond syndrome -MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with absent language and variable seizures +MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with absent language and variable seizures MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures -MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megabladder, congenital MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megabladder, congenital MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate oxaloacetate transaminase, mitochondrial, deficiency of @@ -33934,201 +33305,201 @@ MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMI MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and impaired intellectual development MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome -MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liang-wang syndrome MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liang-wang syndrome -MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vandervore-schot syndrome -MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vandervore-schot syndrome MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poirier-bienvenu neurodevelopmental syndrome MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poirier-bienvenu neurodevelopmental syndrome -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 -MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym structural brain anomalies with impaired intellectual development and craniosynostosis -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures -MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch OMIM:618737 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barakat-perenthaler syndrome -MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 -MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypotonia and behavioral abnormalities -MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 +MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 -MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catifa syndrome MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catifa syndrome -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 -MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 +MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cebalid syndrome MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cebalid syndrome MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development -MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cebalid syndrome MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618775 MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618780 -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 MONDO:0032915 long QT syndrome 16 skos:closeMatch OMIM:618782 long qt syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imagawa-matsumoto syndrome MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618786 MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagawa-matsumoto syndrome -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imagawa-matsumoto syndrome MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome MONDO:0032919 intellectual developmental disorder 62 skos:closeMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile arthritis MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile arthritis -MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile arthritis MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation -MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beck-fahrner syndrome +MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beck-fahrner syndrome +MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beck-fahrner syndrome MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label respiratory papillomatosis, juvenile recurrent, congenital MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory papillomatosis, juvenile recurrent, congenital -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandestig-stefanova syndrome +MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triokinase and fmn cyclase deficiency syndrome MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triokinase and fmn cyclase deficiency syndrome MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 -MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with poor growth and with or without seizures or ataxia -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 +MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with poor growth and with or without seizures or ataxia +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal -MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitourinary and/or brain malformation syndrome MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitourinary and/or brain malformation syndrome +MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitourinary and/or brain malformation syndrome MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic limb shortening with dysmorphic features MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic limb shortening with dysmorphic features MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 congenital myopathy 9a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital proximal, with minicore lesions -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch OMIM:618828 nabais sa-de vries syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch OMIM:618829 nabais sa-de vries syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3, formerly MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, congenital MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without hepatic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301006 MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617729 MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617730 MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617731 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617524 -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617756 +MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617756 MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617560 -MONDO:0033044 Meckel syndrome 13 skos:closeMatch OMIM:617562 meckel syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 +MONDO:0033044 Meckel syndrome 13 skos:closeMatch OMIM:617562 meckel syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033045 orofaciodigital syndrome 16 skos:closeMatch OMIM:617563 orofaciodigital syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617565 MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617571 @@ -34137,31 +33508,31 @@ MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatc MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617637 +MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 +MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617654 MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617654 MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial steroid-resistant nephrotic syndrome with adrenal insufficiency MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617575 MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617577 MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 37, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617605 -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617606 MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617606 MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617663 MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617610 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617613 MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617622 @@ -34181,53 +33552,53 @@ MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orp MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617938 MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618008 MONDO:0033375 orofaciodigital syndrome 17 skos:closeMatch OMIM:617926 orofaciodigital syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement +MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch OMIM:617770 spinocerebellar ataxia 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 46, autosomal dominant, with sensory axonal neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617899 -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617808 -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617626 MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch OMIM:617626 fibromatosis, gingival, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suleiman-el-hattab syndrome +MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617626 MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suleiman-el-hattab syndrome -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suleiman-el-hattab syndrome MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifng deficiency, autosomal recessive MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifng deficiency, autosomal recessive -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod synaptic disorder syndrome, congenital nonprogressive +MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod synaptic disorder syndrome, congenital nonprogressive -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tolchin-le caignec syndrome -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tolchin-le caignec syndrome +MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and variable bone defects MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618971 -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tolchin-le caignec syndrome +MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tolchin-le caignec syndrome MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, infantile-onset, biotin-responsive MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium-dependent multivitamin transporter deficiency MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sodium-dependent multivitamin transporter deficiency -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, infantile-onset, biotin-responsive -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618974 -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-ghorbani-weisz-hubshman syndrome MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-ghorbani-weisz-hubshman syndrome -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies +MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-ghorbani-weisz-hubshman syndrome +MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618974 MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to myod1 deficiency +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618975 -MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 +MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, dpm3-related MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 @@ -34235,33 +33606,33 @@ MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Or MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, immune dysregulation, and eosinophilia MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, immune dysregulation, and eosinophilia MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, enteritis, colitis, and eosinophilia -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with seizures and language delay MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with seizures and language delay MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619000 +MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with seizures and language delay MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 +MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deeah syndrome MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah syndrome -MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deeah syndrome -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619005 -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619009 -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619011 -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619031 +MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619044 @@ -34286,63 +33657,58 @@ MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatc MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619072 MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619076 -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619081 MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619083 -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619087 -MONDO:0033669 Noonan syndrome 13 skos:exactMatch NCIT:C177121 Noonan Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 +MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619094 MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619095 -MONDO:0033821 fungal keratitis skos:exactMatch NCIT:C128370 Fungal Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618218 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 2 semapv:RegularExpressionReplacement -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 1 semapv:RegularExpressionReplacement -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch NCIT:C181652 Monoclonal Mast Cell Activation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 1 semapv:RegularExpressionReplacement +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 2 semapv:RegularExpressionReplacement +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616471 MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618261 MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618414 -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618321 -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, early-onset, with skeletal and dental anomalies -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoskeletodental syndrome -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, early-onset, with skeletal and dental anomalies MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome MONDO:0034212 methotrexate toxicity skos:exactMatch NCIT:C81194 Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity MONDO:0034556 vibratory angioedema skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory angioedema MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617991 MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0035450 aprosencephaly skos:exactMatch NCIT:C98824 Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoffman syndrome MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilu syndrome MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou -MONDO:0035737 acquired factor V deficiency skos:exactMatch NCIT:C131624 Acquired Factor V Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency -MONDO:0035738 acquired factor VII deficiency skos:exactMatch NCIT:C131625 Acquired Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency -MONDO:0035740 acquired factor XI deficiency skos:exactMatch NCIT:C131627 Acquired Factor XI Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619273 +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619318 MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619279 +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619338 MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma MONDO:0037747 spinal injury skos:exactMatch NCIT:C50751 Spinal Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal injury -MONDO:0037792 carbohydrate metabolism disease skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carbohydrate metabolism disorder semapv:RegularExpressionReplacement +MONDO:0037792 carbohydrate metabolism disease skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism MONDO:0037807 glycerol metabolism disease skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342762 MONDO:0037807 glycerol metabolism disease skos:exactMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of glycerol metabolism MONDO:0037821 porphyrin metabolism disease skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of porphyrin and heme metabolism @@ -34350,113 +33716,108 @@ MONDO:0037829 purine metabolism disease skos:closeMatch Orphanet:79191 Disorder MONDO:0037829 purine metabolism disease skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism MONDO:0037937 pyrimidine metabolism disease skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 MONDO:0037937 pyrimidine metabolism disease skos:exactMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of pyrimidine metabolism -MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria +MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria +MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement +MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement -MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement -MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617825 -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617681 +MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch NCIT:C34607 Favism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label favism MONDO:0040674 orgasm disorder skos:closeMatch NCIT:C78510 Abnormal Orgasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abnormal orgasm -MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripheral ischemia MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral ischemia +MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripheral ischemia MONDO:0041182 polymorphic light eruption skos:exactMatch NCIT:C112201 Polymorphous Light Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption MONDO:0042233 disseminated candidiasis skos:closeMatch NCIT:C116813 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label invasive candidiasis -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and carcinoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and carcinoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13-q14 duplication syndrome, type 40-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13-q14 duplication syndrome, type 40-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202700 MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 MONDO:0042970 disorder of glutamate decarboxylase skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 MONDO:0042974 parainfluenza virus type 3 infectious disease skos:closeMatch NCIT:C112317 Human Parainfluenza Virus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human parainfluenza virus type 3 semapv:RegularExpressionReplacement MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 +MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 +MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170400 -MONDO:0042981 aortic valve stenosis skos:exactMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic valve stenosis -MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis +MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency MONDO:0042983 neurocutaneous syndrome skos:closeMatch NCIT:C84348 Phakomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phakomatosis -MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0043003 familial acanthosis nigricans skos:closeMatch NCIT:C26687 Acanthosis Nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans +MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thomas-jewett-raines syndrome MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931224 +MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thomas-jewett-raines syndrome MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931734 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 +MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 MONDO:0043233 exfoliative dermatitis skos:closeMatch NCIT:C39646 Erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ameloblastic fibro-odontoma MONDO:0043251 odontoma skos:closeMatch NCIT:C3711 Compound Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label compound odontoma MONDO:0043277 mosaic trisomy 6 skos:closeMatch NCIT:C36475 Trisomy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic cheilitis -MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic cheilitis MONDO:0043303 hyperacusis skos:closeMatch NCIT:C122579 Phonophobia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phonophobia MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0043327 cerebrospinal fluid leak skos:closeMatch NCIT:C50487 Cerebrospinal Fluid Leakage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid leakage -MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial +MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma MONDO:0043452 chromosome 8, trisomy skos:closeMatch NCIT:C36396 Trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain injury MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain injury -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement -MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C6827 Chromosomal Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosomal inversion +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C70653 Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inversion +MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C6827 Chromosomal Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosomal inversion MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C75568 Multiple Organ Failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ failure -MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ dysfunction syndrome -MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple organ dysfunction syndrome MONDO:0043731 lytic metastatic bone lesion skos:exactMatch NCIT:C50681 Osteolysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteolysis MONDO:0043797 spinal cord injury skos:exactMatch NCIT:C50750 Spinal Cord Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord injury MONDO:0043797 spinal cord injury skos:exactMatch NCIT:C50750 Spinal Cord Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal cord injury -MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankle injury MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankle injury +MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankle injury MONDO:0043919 radiation pneumonitis skos:closeMatch NCIT:C9436 Radiation Fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiation fibrosis MONDO:0043959 pseudolymphoma skos:closeMatch NCIT:C97078 Benign Lymphoid Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoid hyperplasia MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedo reticularis MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label livedo reticularis -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260400 -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617941 +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome, formerly -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245480 @@ -34464,16 +33825,16 @@ MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recu MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prepl deficiency MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616224 MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617100 -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617384 MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, mild, non-bh4-deficient MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, mild, non-bh4-deficient -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617393 MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617393 MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:closeMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macinnes syndrome @@ -34482,30 +33843,28 @@ MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities sko MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt60 MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 60 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617433 -MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs7, digenic MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs7, digenic MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617452 MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617460 -MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, spine malformation, dysmorphic facies, and developmental delay MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al kaissi syndrome MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al kaissi syndrome +MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, spine malformation, dysmorphic facies, and developmental delay MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617836 MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618011 MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc degeneration, susceptibility to -MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc herniation, susceptibility to +MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10CM:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10WHO:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement +MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy +MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy -MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy -MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600166 MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020499 MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616921 -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskinesia, limb and orofacial, infantile-onset -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dyskinesia, limb and orofacial, infantile-onset MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the hypopharynx MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617193 MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gershoni-baruch syndrome @@ -34514,79 +33873,75 @@ MONDO:0044688 isolated optic neuritis skos:exactMatch NCIT:C597 Ion semapv:Lexic MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain atrophy and spasticity MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain atrophy and spasticity MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617669 -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with brain atrophy MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with brain atrophy MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with brain atrophy MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301018 MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the oropharynx MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the nasal cavity and paranasal sinuses MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of oral cavity and lip -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617675 -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, mitochondrial, and ataxia +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617675 +MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617762 MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, progressive, early childhood-onset MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, progressive, early childhood-onset -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617762 MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614575 -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch OMIM:617514 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch OMIM:617514 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617698 -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch OMIM:617827 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birk-landau-perez syndrome MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-landau-perez syndrome MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617595 -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birk-landau-perez syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of salivary glands -MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prekallikrein deficiency -MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prekallikrein deficiency -MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nervous system injury +MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prekallikrein deficiency +MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prekallikrein deficiency MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nervous system injury -MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lumbar spinal stenosis -MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lumbar spinal stenosis +MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nervous system injury MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof10 MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menopause, natural, age at, quantitative trait locus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334968 -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus spilus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318558 +MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital melanocytic nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spitz nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanocytic nevus syndrome, congenital +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318558 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137550 -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented moles -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842036 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanocytic nevus syndrome, congenital -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanocytic nevus syndrome, congenital -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spitz nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842036 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus spilus MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spitz nevus MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitz nevus MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0044871 dystonia, focal, task-specific skos:closeMatch OMIM:611284 dystonia, focal, task-specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musicians dystonia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044876 drug hypersensitivity syndrome skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drug reaction with eosinophilia and systemic symptoms -MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration -MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paraneoplastic cerebellar degeneration -MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis +MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis MONDO:0044970 mitochondrial disease skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34596,87 +33951,75 @@ MONDO:0045022 disorder of organic acid metabolism skos:exactMatch NCIT:C101334 O MONDO:0045024 cancer or benign tumor skos:closeMatch NCIT:C3262 Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neoplasm MONDO:0045042 restricted to specific location skos:exactMatch NCIT:C14146 Localized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label localized MONDO:0045045 selective IgG immunodeficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162539 -MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxemia of pregnancy MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toxemia of pregnancy -MONDO:0045050 nuclear cataract skos:exactMatch NCIT:C135176 Nuclear Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nuclear cataract -MONDO:0045051 cortical cataract skos:exactMatch NCIT:C135177 Cortical Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical cataract -MONDO:0045057 delirium skos:closeMatch NCIT:C34868 Organic Brain Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic brain syndrome +MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxemia of pregnancy MONDO:0045057 delirium skos:narrowMatch ICD10WHO:F05.8 Other delirium semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym delirium semapv:RegularExpressionReplacement -MONDO:0045057 delirium skos:exactMatch NCIT:C2981 Delirium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delirium +MONDO:0045057 delirium skos:closeMatch NCIT:C34868 Organic Brain Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic brain syndrome MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of +MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 +MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608805 -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617383 MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617395 -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 +MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia +MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617443 -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617466 -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617520 MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617542 MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617576 -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch OMIM:617616 skraban-deardorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability with seizures, abnormal gait, and distinctive facial features MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617616 +MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch OMIM:617616 skraban-deardorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability with seizures, abnormal gait, and distinctive facial features MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tosti syndrome -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 -MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 1, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proteasome-associated autoinflammatory syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteasome-associated autoinflammatory syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jmp syndrome -MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617768 -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617781 -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617800 MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617809 @@ -34688,116 +34031,116 @@ MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infe MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 -MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraser syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054737 Fraser syndrome 1 skos:closeMatch NCIT:C118436 Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 +MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations +MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraser syndrome +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome MONDO:0054738 Fraser syndrome 2 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617666 MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617667 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lagophthalmia with bilateral cleft type 51p and palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lagophthalmia with bilateral cleft type 51p and palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617872 -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group s +MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group s MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617914 +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 +MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054780 elliptocytosis 3 skos:closeMatch OMIM:617948 elliptocytosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, perinatal hemolytic, fatal or near-fatal MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617948 MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617954 -MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, nonsyndromic, autosomal recessive type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617983 -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617984 +MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617985 +MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617984 MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617985 MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 +MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618036 -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd57 MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618061 -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 +MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618078 MONDO:0054852 peeling skin syndrome 6 skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618094 MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt63 -MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium ileus +MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 +MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meconium ileus -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium ileus MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym germinal cell aplasia -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sertoli cell-only syndrome +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617523 MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder semapv:RegularExpressionReplacement MONDO:0056822 amyotonia congenita skos:closeMatch OMIM:205000 amyotonia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oppenheim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34807,24 +34150,24 @@ MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:closeMatch Orphanet: MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with arthritis and dyskeratosis MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with arthritis and dyskeratosis MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sry-negative +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617481 MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:closeMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with neuropathy and deafness MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617527 MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617561 -MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maai deficiency MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypersuccinylacetonemia +MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maai deficiency MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersuccinylacetonemia, mild MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617604 -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyanthranilic acidemia MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyanthranilic acidemia MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617660 -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, complete MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, complete +MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617662 MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:closeMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060564 HELIX syndrome skos:closeMatch OMIM:617671 helix syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia @@ -34833,8 +34176,8 @@ MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch OMIM:617682 pilarows MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617682 MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617709 MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617710 -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy and optic atrophy +MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617717 MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate dehydrogenase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34848,80 +34191,75 @@ MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:6 MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617924 MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:closeMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of t4 -MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome -MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal hydantoin syndrome MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arene oxide detoxification defect +MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal hydantoin syndrome MONDO:0060690 phenytoin toxicity skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome +MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:closeMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elhattab-alkuraya syndrome MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617982 MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617993 MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617994 -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch OMIM:618021 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome type 2 with pulmonary agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 +MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch OMIM:618021 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome type 2 with pulmonary agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:closeMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfhrtrd MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 -MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch OMIM:618092 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive -MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult fanconi syndrome +MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult fanconi syndrome +MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult fanconi syndrome MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 -MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mast cell activation syndrome semapv:RegularExpressionReplacement MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mast cell activation disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 +MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mast cell activation syndrome semapv:RegularExpressionReplacement +MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pityriasis rubra pilaris MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 +MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 MONDO:0100017 pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pityriasis rubra pilaris MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy of infancy with migrating focal seizures MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complex neurodevelopmental disorder MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex neurodevelopmental disorder -MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac conduction defect -MONDO:0100042 cardiac conduction defect skos:exactMatch OMIM:115080 cardiac conduction defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cardiac conduction defect MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115080 MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201180 MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226400 +MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation syndrome MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation glaucoma MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation of the lens -MONDO:0100046 exfoliation syndrome, susceptibility to skos:closeMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoexfoliation syndrome MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 MONDO:0100050 Usher syndrome, type 1D/F skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0100053 anaphylaxis skos:exactMatch NCIT:C50460 Anaphylactic Shock semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anaphylactic shock MONDO:0100059 hypereosinophilia of undetermined significance skos:exactMatch NCIT:C185725 Hypereosinophilia of Undetermined Significance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilia of undetermined significance -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116552 Early Infantile Epileptic Encephalopathy with Burst-Suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy with burst-suppression MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 +MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116552 Early Infantile Epileptic Encephalopathy with Burst-Suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy with burst-suppression +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116529 Infantile Spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile spasm -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NCIT:C157158 Tyrosine Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100075 jaw fracture skos:exactMatch NCIT:C26803 Jaw Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jaw fracture -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dravet syndrome -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch NCIT:C116573 Dravet Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607208 +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch NCIT:C116573 Dravet Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100081 sleep disorder skos:closeMatch NCIT:C94836 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151100 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet disorder, familial, with associated myeloid malignancy MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, aspirin-like +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, familial, with associated myeloid malignancy MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601399 MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thrombocytopenia with propensity to acute myelogenous leukemia +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601399 +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perinatal disorder MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal disorder semapv:RegularExpressionReplacement MONDO:0100087 familial Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34932,54 +34270,50 @@ MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618388 MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618389 MONDO:0100104 fetal akinesia deformation sequence 4 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618393 -MONDO:0100115 acute flaccid myelitis skos:exactMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3694279 MONDO:0100118 genetic skin disorder skos:exactMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genodermatosis MONDO:0100119 Knobloch syndrome 2 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618458 -MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym p5cs deficiency MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym p5cs deficiency +MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym p5cs deficiency MONDO:0100129 intracranial arachoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207790 MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936907 -MONDO:0100135 Dravet syndrome skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751122 MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dravet syndrome -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dravet syndrome -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome -MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome -MONDO:0100137 telomere syndrome skos:exactMatch NCIT:C152065 Telomere Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telomere syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome +MONDO:0100135 Dravet syndrome skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751122 +MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome MONDO:0100144 Uner Tan Syndrome skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uner tan syndrome -MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 +MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261100 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618882 MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833104 +MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 MONDO:0100168 desmoid tumor caused by somatic mutation skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoid tumor caused by somatic mutation MONDO:0100169 polyneuropathy, inflammatory demyelinating, chronic skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyneuropathy, inflammatory demyelinating, chronic MONDO:0100173 leukemia, acute myeloid, susceptibility to skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukemia, acute myeloid, susceptibility to MONDO:0100181 dermatitis, atopic, 1 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermatitis, atopic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radioulnar synostosis, nonsyndromic, susceptibility to -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179300 -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100185 immune reconstitution inflammatory syndrome skos:closeMatch NCIT:C125712 Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label immune reconstitution inflammatory syndrome associated with kaposi sarcoma +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, b -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268467 -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100187 opioid-induced constipation skos:exactMatch NCIT:C148034 Opioid-Induced Constipation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opioid-induced constipation MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency MONDO:0100190 gastric intestinal metaplasia skos:exactMatch NCIT:C8360 Intestinal Metaplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal metaplasia @@ -34988,337 +34322,307 @@ MONDO:0100202 lumbar disc herniation, susceptibility to skos:exactMatch OMIM:603 MONDO:0100206 lumbar disc degeneration, susceptibility to skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lumbar disc degeneration, susceptibility to MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 MONDO:0100212 IFAP syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ifap syndrome -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rajab interstitial lung disorder with brain calcifications semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613658 MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rajab syndrome -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphthamide deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619013 MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619016 -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 -MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriatic arthritis, susceptibility to -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psoriatic arthritis, susceptibility to -MONDO:0100232 psoriatic arthritis, susceptibility to skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to +MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy +MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100233 long COVID-19 skos:exactMatch NCIT:C179263 Post-Acute Sequelae of COVID-19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label post-acute sequelae of covid-19 -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034042 MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024790 +MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034042 MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx male, sry-positive -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx sex reversal type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx male, sry-positive MONDO:0100250 46,XX sex reversal 1 skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx true hermaphroditism, sry-positive MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipocalcinogranulomatosis MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with hyperphosphatemia MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis with hyperphosphatemia -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipocalcinogranulomatosis -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morbus teutschlaender +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morbus teutschlaender MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudothalidomide syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614300 +MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome +MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome MONDO:0100255 adenosine kinase deficiency skos:closeMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614300 MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency -MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gnpat deficiency MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency -MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency -MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agps deficiency +MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gnpat deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency +MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agps deficiency +MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 +MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047801 MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153600 MONDO:0100282 SC phocomelia syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sc phocomelia syndrome MONDO:0100285 extrahepatic biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210500 -MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic biliary atresia +MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis with early nyctalopia MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enhanced s-cone syndrome MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym goldmann-favre syndrome MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favre hyaloideoretinal degeneration MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619941 -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carey-fineman-ziter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate dehydrogenase deficiency MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate coq reductase deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disorder, susceptibility to, mitochondrial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 -MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma, capillary infantile -MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemangioma, hereditary capillary -MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemangioma, capillary infantile +MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 +MONDO:0100302 LADD syndrome 1 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149730 +MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 +MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 MONDO:0100308 atactic disorder skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039211 -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 +MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 +MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039211 MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184260 +MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch OMIM:184260 odontochondrodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta +MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184260 MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glanzmann thrombasthenia -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia +MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia MONDO:0100327 hypercholanemia, familial skos:exactMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypercholanemia MONDO:0100330 disease arising from reactivation of latent virus skos:exactMatch NCIT:C9494 Latent Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label latent infection MONDO:0100338 urinary tract infection skos:exactMatch NCIT:C50791 Urinary Tract Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection +MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017374 -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 +MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 MONDO:0100342 malignant glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018338 -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 MONDO:0100344 Bartter disease type 1 skos:closeMatch OMIM:601678 bartter syndrome, iia 1, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 1, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100344 Bartter disease type 1 skos:exactMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 MONDO:0100344 Bartter disease type 1 skos:exactMatch NCIT:C178412 Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 -MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence -MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement -MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumors, intestinal MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carcinoid tumors, intestinal MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619091 -MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coach syndrome +MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857662 -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic choreoathetosis -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial paroxysmal -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608393 +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249210 -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608393 MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100428 progressive bulbar palsy of childhood skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211500 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophic myotonia +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 MONDO:0100436 cataract 2, multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604307 -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinal ciliopathy due to mutation in the rpgr gene +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd ixa2 MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder ixa2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus -MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym västerbotten dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bothnia retinal dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym västerbotten dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bothnia retinal dystrophy +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym total colorblindness with myopia +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym total colorblindness with myopia +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia with myopia MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement -MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia-retinitis pigmentosa syndrome +MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive posterior column ataxia and retinitis pigmentosa -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa +MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia-retinitis pigmentosa syndrome MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia with retinitis pigmentosa +MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193235 -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal blindness, congenital -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 MONDO:0100459 azoospermia skos:exactMatch NCIT:C80076 Azoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label azoospermia MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch OMIM:612052 smoking as a quantitative trait locus 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nicotine dependence, susceptibility to -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acid sphingomyelinase deficiency -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count +MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189800 MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome -MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain malformations with or without urinary tract defects MONDO:0100478 brain malformations with or without urinary tract defects skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613735 -MONDO:0100478 brain malformations with or without urinary tract defects skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brain malformations with or without urinary tract defects MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch NCIT:C128417 Extensively Drug-Resistant Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensively drug-resistant tuberculosis MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric cancer, hereditary diffuse -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric cancer, familial diffuse breast cancer, lobular -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse gastric and lobular breast cancer syndrome -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse gastric and lobular breast cancer syndrome -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch NCIT:C118459 Amastia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amastia +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amastia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113700 +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch NCIT:C118459 Amastia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amastia MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 MONDO:0100491 generalized pustular psoriasis skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym generalized pustular psoriasis MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis MONDO:0100501 body-stalk anomaly skos:exactMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym body stalk anomaly MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label limb body wall complex -MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100515 mirror movements 1 and/or agenesis of the corpus callosum skos:exactMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0400004 phrynoderma skos:exactMatch NCIT:C112827 Phrynoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phrynoderma -MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 +MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C78293 Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fallopian tube obstruction MONDO:0700005 idiopathic skos:exactMatch NCIT:C28242 Idiopathic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic MONDO:0700035 monosomy chromosome 8 skos:closeMatch NCIT:C36535 Loss of Chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 +MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838703 +MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613013 -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700048 hand-foot syndrome skos:exactMatch NCIT:C27177 Palmar-Plantar Erythrodysthesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmar-plantar erythrodysthesia -MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morton neuroma MONDO:0700062 mosaic skos:exactMatch NCIT:C88144 Mosaic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic MONDO:0700063 complete skos:exactMatch NCIT:C25250 Complete semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete MONDO:0700065 trisomy skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014314 @@ -35328,139 +34632,132 @@ MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-co MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfb deficiency MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfdh deficiency MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome +MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfdh deficiency +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant ards +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035220 -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020192 MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rds of prematurity -MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robertsonian translocation down syndrome -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 +MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020192 +MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035220 MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 +MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal non-kinesigenic dyskinesia -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, nonkinesigenic -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mount-reback syndrome +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065658 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, nonkinesigenic MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, familial paroxysmal +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600512 -MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613026 MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270100 MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proliferative vitreoretinopathy -MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome +MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch NCIT:C130986 Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700126 trisomy 21 skos:exactMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700126 trisomy 21 skos:exactMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis -MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label group b streptococcal infection -MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haddad syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddad syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchs with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddad syndrome +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221820 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711381 +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221820 MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847627 MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606703 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 -MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis, idiopathic -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275210 MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406585 -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432240 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601559 +MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432240 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615273 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609698 MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613112 MONDO:0800096 abnormal mineralization disorder skos:closeMatch NCIT:C26838 Osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomalacia -MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp33 -MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp33 MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca13 MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca9 -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm2 +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216360 -MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0800106 disruptive behavior disorder skos:exactMatch NCIT:C99753 Disruptive Behavior Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disruptive behavior disorder +MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive +MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800113 necrotizing vasculitis skos:exactMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic vasculitis -MONDO:0800113 necrotizing vasculitis skos:exactMatch NCIT:C70635 Necrotizing Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing vasculitis MONDO:0800120 Mac-Leod-Swyer-James-Syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs -MONDO:0800133 pulmonary hypoplasia skos:exactMatch NCIT:C99035 Pulmonary Hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypoplasia MONDO:0800166 Knobloch syndrome skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kno -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal detachment and occipital encephalocele MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 -MONDO:0800175 cardiogenic shock skos:exactMatch NCIT:C50482 Cardiogenic Shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kno +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal detachment and occipital encephalocele MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007625 MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 +MONDO:0800175 cardiogenic shock skos:exactMatch NCIT:C50482 Cardiogenic Shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613002 MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achalasia-alacrima syndrome -MONDO:0800196 achromatopsia 5 skos:exactMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800196 achromatopsia 5 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800196 achromatopsia 5 skos:exactMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800197 achromatopsia 6 skos:exactMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800198 alopecia universalis skos:exactMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alopecia universalis MONDO:0800198 alopecia universalis skos:exactMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis +MONDO:0800198 alopecia universalis skos:exactMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alopecia universalis MONDO:0800199 Angelman syndrome chromosome region skos:exactMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angelman syndrome chromosome region MONDO:0800201 baldness, male pattern skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baldness, male pattern MONDO:0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia @@ -35473,14 +34770,14 @@ MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMat MONDO:0800226 strabismus, susceptibility to, 1 skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800250 Graves disease, susceptibility to, X-linked 2 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800261 autoimmune thyroid disease, susceptibility to, 5 skos:exactMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch NCIT:C101029 Atrioventricular Septal Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect MONDO:0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800274 autoimmune disease, susceptibility to, 5 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -35498,8 +34795,8 @@ MONDO:0800299 myopathy, congenital, with excess of muscle spindles skos:exactMat MONDO:0800300 black locks with albinism and deafness syndrome skos:exactMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym black locks with albinism and deafness syndrome MONDO:0800301 Friedreich ataxia with retained reflexes skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia with retained reflexes MONDO:0800302 glycogen storage disease Id skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder id semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800306 epilepsy, progressive myoclonic, 2b skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800307 de la Chapelle dysplasia skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym de la chapelle dysplasia MONDO:0800308 orotic aciduria without megaloblastic anemia skos:exactMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orotic aciduria without megaloblastic anemia @@ -35515,19 +34812,13 @@ MONDO:0800323 long QT syndrome 4 skos:exactMatch OMIM:600919 cardiac arrhythmia, MONDO:0800324 microphthalmia, isolated, with coloboma 8 skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia, isolated, with coloboma type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800326 cone-rod dystrophy 14 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800328 retinitis pigmentosa 94, variable age at onset skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 94, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800329 febrile seizures, familial, 3a skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800330 myoclonic epilepsy, juvenile, 2 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800331 hyperglycinemia, transient neonatal skos:exactMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperglycinemia, transient neonatal MONDO:0800335 migraine, familial hemiplegic, 4 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800337 acute tubulointerstitial nephritis skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute tubulointerstitial nephritis MONDO:0800339 laryngospasm, severe neonatal episodic skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngospasm, severe neonatal episodic -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy type 4a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital myopathy type 4a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital, with fiber-type disproportion -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fiber-type disproportion myopathy, congenital MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255310 MONDO:0800342 cap myopathy 2 skos:exactMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800344 brachydactyly-syndactyly-oligodactyly syndrome skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome @@ -35590,134 +34881,70 @@ MONDO:0800428 dengue shock syndrome, susceptibility to skos:exactMatch OMIM:6143 MONDO:0800429 dyslexia, susceptibility to, 4 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800430 dyslexia, susceptibility to, 7 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym efavirenz central nervous system toxicity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800433 ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800434 ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800435 ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfsmr1 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pascual-castroviejo syndrome type 1 MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrofaciothoracic dysplasia -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850746 -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, congenital nonprogressive, with moebius sequence and robin sequence -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations -MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia -MONDO:0850010 congenital optic disc excavation skos:exactMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital optic disc excavation -MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence -MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence -MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction -MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia -MONDO:0850046 amniotic fluid embolism skos:exactMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism MONDO:0850046 amniotic fluid embolism skos:exactMatch NCIT:C111911 Amniotic Fluid Embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850048 classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis -MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome MONDO:0850054 hemophilia B leyden skos:exactMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b leyden -MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disorder with increased il18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency -MONDO:0850070 CADINS disease skos:exactMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis -MONDO:0850084 non-syndromic pansynostosis skos:exactMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:exactMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia -MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia -MONDO:0850100 body integrity dysphoria skos:exactMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies -MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch NCIT:C48613 Melanoma in Congenital Melanocytic Nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma in congenital melanocytic nevus MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch NCIT:C139012 Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0850154 tongue carcinoma skos:exactMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch NCIT:C62193 Salivary Gland Mucinous Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucinous adenocarcinoma MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch NCIT:C45542 Lung Pleomorphic Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung pleomorphic carcinoma MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch NCIT:C6772 Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch NCIT:C45340 Primary Cutaneous Gamma-Delta T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma-delta t-cell lymphoma -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym inclusion body myopathy and brain white matter abnormalities -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities -MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome -MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0851095 KINSSHIP syndrome skos:exactMatch Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch NCIT:C4768 Malignant Olfactory Nerve Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193670 -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472817 +MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome +MONDO:0859154 Bartsocas-Papas syndrome 2 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619339 +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch OMIM:620227 deafness, autosomal dominant 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch OMIM:620227 deafness, autosomal dominant 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch OMIM:620238 deafness, autosomal recessive 120 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 120 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch OMIM:620238 deafness, autosomal recessive 120 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 120 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 +MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193670 +MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472817 MONDO:8000006 WHIM syndrome 1 skos:exactMatch NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796037 MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212720 +MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796037 MONDO:8000010 antiphospholipid syndrome skos:closeMatch OMIM:107320 antiphospholipid syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lupus anticoagulant, familial -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nid a MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction due to neuronal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argyrophil myenteric plexus, deficiency of +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855733 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argyrophil myenteric plexus, deficiency of MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616263 -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular regression syndrome MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xy gonadal agenesis syndrome -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorchia, familial +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression, embryonic MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression syndrome -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 -MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266427 +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorchia, familial MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002641 +MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266427 MONDO:8000017 testicular regression syndrome skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular regression syndrome MONDO:8000019 vertigo, benign recurrent, 1 skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vertigo, benign recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:8000019 vertigo, benign recurrent, 1 skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vertigo, benign recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 76897317..919901b1 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/b661d63f-094b-4e17-8513-71064c3f961e +# mapping_set_id: https://w3id.org/sssom/mappings/e5be3694-cc11-49bf-b050-fb6bd53bcffe subject_id subject_label predicate_id object_id mapping_justification NCIT:C12290 Mandible oboInOwl:hasDbXref UBERON:0001684 semapv:UnspecifiedMatching NCIT:C12298 Retroperitoneum oboInOwl:hasDbXref UBERON:0003693 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index ac11e791..72632dd3 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-28") +Annotation(owl:versionInfo "2023-03-29") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index ad807950..6042ee1c 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-28") +Annotation(owl:versionInfo "2023-03-29") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index fa83f168..ac33dcc1 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,29 +3,29 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in `unmapped_icd_lex`: 1937 - * Number of mappings in `unmapped_omim_lex`: 43 - * Number of mappings in `unmapped_ordo_lex`: 78 - * Number of mappings in `unmapped_doid_lex`: 1094 - * Number of mappings in `unmapped_ncit_lex`: 418 + * Number of mappings in `unmapped_icd_lex`: 1936 + * Number of mappings in `unmapped_omim_lex`: 10 + * Number of mappings in `unmapped_ordo_lex`: 10 + * Number of mappings in `unmapped_doid_lex`: 422 + * Number of mappings in `unmapped_ncit_lex`: 173 * Number of mappings in `unmapped_icd_mondo`: 37 - * Number of mappings in `unmapped_omim_mondo`: 2164 - * Number of mappings in `unmapped_ordo_mondo`: 1369 - * Number of mappings in `unmapped_doid_mondo`: 48 - * Number of mappings in `unmapped_ncit_mondo`: 2759 - * Number of mappings in `mondo_exactmatch_orphanet`: 1445 - * Number of mappings in `mondo_closematch_orphanet`: 17 - * Number of mappings in `mondo_broadmatch_orphanet`: 1 - * Number of mappings in `mondo_exactmatch_icd10cm`: 1972 - * Number of mappings in `mondo_narrowmatch_icd10cm`: 354 + * Number of mappings in `unmapped_omim_mondo`: 2221 + * Number of mappings in `unmapped_ordo_mondo`: 1408 + * Number of mappings in `unmapped_doid_mondo`: 51 + * Number of mappings in `unmapped_ncit_mondo`: 2790 * Number of mappings in `mondo_closematch_icd10cm`: 426 * Number of mappings in `mondo_broadmatch_icd10cm`: 77 - * Number of mappings in `mondo_exactmatch_ncit`: 3178 - * Number of mappings in `mondo_closematch_ncit`: 273 + * Number of mappings in `mondo_exactmatch_icd10cm`: 1971 + * Number of mappings in `mondo_narrowmatch_icd10cm`: 354 + * Number of mappings in `mondo_closematch_doid`: 898 + * Number of mappings in `mondo_broadmatch_doid`: 4 + * Number of mappings in `mondo_exactmatch_doid`: 471 + * Number of mappings in `mondo_narrowmatch_doid`: 6 + * Number of mappings in `mondo_closematch_ncit`: 250 * Number of mappings in `mondo_broadmatch_ncit`: 29 - * Number of mappings in `mondo_exactmatch_omim`: 1673 - * Number of mappings in `mondo_closematch_omim`: 4 - * Number of mappings in `mondo_exactmatch_doid`: 1140 - * Number of mappings in `mondo_narrowmatch_doid`: 26 - * Number of mappings in `mondo_closematch_doid`: 1694 - * Number of mappings in `mondo_broadmatch_doid`: 12 + * Number of mappings in `mondo_exactmatch_ncit`: 2965 + * Number of mappings in `mondo_closematch_omim`: 9 + * Number of mappings in `mondo_exactmatch_omim`: 1679 + * Number of mappings in `mondo_closematch_orphanet`: 8 + * Number of mappings in `mondo_broadmatch_orphanet`: 1 + * Number of mappings in `mondo_exactmatch_orphanet`: 1416 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv index 9b858e15..9789dd77 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv @@ -14,6 +14,7 @@ MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 DOID:0080069 MONDO:equ MONDO:0000872 B-cell childhood acute lymphoblastic leukemia DOID:0080146 MONDO:equivalentTo childhood B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block DOID:10272 MONDO:equivalentTo left bundle branch hemiblock semapv:UnspecifiedMatching MONDO:0001254 obsolete peripheral scars of retina DOID:11283 MONDO:equivalentTo peripheral scars of retina semapv:UnspecifiedMatching +MONDO:0001324 obsolete hyperandrogenism DOID:11613 MONDO:equivalentTo hyperandrogenism semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin DOID:12223 MONDO:equivalentTo specific bursitis often of occupational origin semapv:UnspecifiedMatching MONDO:0001578 obsolete hernia of ovary and fallopian tube DOID:12735 MONDO:equivalentTo hernia of ovary and fallopian tube semapv:UnspecifiedMatching MONDO:0001662 obsolete right bundle branch block DOID:13209 MONDO:equivalentTo right bundle branch block semapv:UnspecifiedMatching @@ -22,6 +23,7 @@ MONDO:0001872 obsolete vestibular nystagmus DOID:14070 MONDO:equivalentTo vestib MONDO:0002324 obsolete enamel erosion DOID:2497 MONDO:equivalentTo enamel erosion semapv:UnspecifiedMatching MONDO:0002336 obsolete inflammatory and toxic neuropathy DOID:2537 MONDO:equivalentTo inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm DOID:3013 MONDO:equivalentTo intraductal breast benign neoplasm semapv:UnspecifiedMatching +MONDO:0002514 hepatobiliary neoplasm DOID:0080355 MONDO:equivalentTo hepatobiliary system cancer semapv:UnspecifiedMatching MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor DOID:4148 MONDO:equivalentTo gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma DOID:4548 MONDO:equivalentTo extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm DOID:4895 MONDO:equivalentTo rete ovarii benign neoplasm semapv:UnspecifiedMatching @@ -43,6 +45,8 @@ MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase defi MONDO:0021199 obsolete disease by anatomical system DOID:7 MONDO:equivalentTo disease of anatomical entity semapv:UnspecifiedMatching MONDO:0021657 ovarian sex cord-stromal tumor DOID:0080369 MONDO:equivalentTo ovarian sex-cord stromal tumor semapv:UnspecifiedMatching MONDO:0021668 obsolete disorder involving pain DOID:0060164 MONDO:equivalentTo pain disorder semapv:UnspecifiedMatching +MONDO:0024286 benign blood vessel neoplasm DOID:60006 MONDO:equivalentTo benign vascular tumor semapv:UnspecifiedMatching MONDO:0024387 benign ovarian sex cord-stromal tumor DOID:0080370 MONDO:equivalentTo ovarian sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO:0024657 obsolete macrocystic neurilemmoma DOID:3203 MONDO:equivalentTo macrocystic neurilemmoma semapv:UnspecifiedMatching +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) DOID:0080643 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with BCR-ABL1 semapv:UnspecifiedMatching MONDO:0056804 benign neoplasm of peripheral nervous system DOID:0080320 MONDO:equivalentTo peripheral nervous system benign neoplasm semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo_exact.tsv index b67b6718..67c255c1 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo_exact.tsv @@ -1,3 +1,2 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0001324 hyperandrogenism DOID:11613 MONDO:equivalentTo hyperandrogenism semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index ee68d006..7f50800a 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -1,5 +1,6 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0000001 disease NCIT:C2991 MONDO:equivalentTo Disease or Disorder semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ NCIT:C4587 MONDO:equivalentTo Stage 0 Oral Cavity Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ NCIT:C4942 MONDO:equivalentTo Stage 0 Pharyngeal Cancer semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm NCIT:C3618 MONDO:equivalentTo Benign Bladder Neoplasm semapv:UnspecifiedMatching @@ -913,6 +914,7 @@ MONDO:0007266 hypertrophic cardiomyopathy 2 NCIT:C142892 MONDO:equivalentTo Fami MONDO:0007268 hypertrophic cardiomyopathy 4 NCIT:C133725 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 NCIT:C134952 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation NCIT:C84567 MONDO:equivalentTo Aortic Coarctation semapv:UnspecifiedMatching +MONDO:0007356 Lynch syndrome 1 NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy NCIT:C123025 MONDO:equivalentTo Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 NCIT:C129744 MONDO:equivalentTo Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 NCIT:C129741 MONDO:equivalentTo Glucokinase-Associated Diabetes Mellitus semapv:UnspecifiedMatching @@ -924,7 +926,7 @@ MONDO:0007566 multiple self-healing squamous epithelioma NCIT:C4461 MONDO:equiva MONDO:0007576 esophageal cancer NCIT:C7478 MONDO:equivalentTo Malignant Esophageal Neoplasm semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor NCIT:C9182 MONDO:equivalentTo Desmoid Fibromatosis semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma NCIT:C43295 MONDO:equivalentTo Hereditary Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching -MONDO:0007665 glaucoma 1, open angle, E NCIT:C35394 MONDO:equivalentTo Primary Open Angle Glaucoma semapv:UnspecifiedMatching +MONDO:0007665 obsolete glaucoma 1, open angle, E NCIT:C35394 MONDO:equivalentTo Primary Open Angle Glaucoma semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation NCIT:C5350 MONDO:equivalentTo Hereditary Glomangioma semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome NCIT:C3821 MONDO:equivalentTo Hemangiomatosis with Thrombocytopenia semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever NCIT:C119051 MONDO:equivalentTo Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome semapv:UnspecifiedMatching @@ -944,7 +946,6 @@ MONDO:0008185 hereditary chronic pancreatitis NCIT:C95436 MONDO:equivalentTo Her MONDO:0008189 papillomatosis, florid, of nipple NCIT:C4383 MONDO:equivalentTo Erosive Nipple Adenomatosis semapv:UnspecifiedMatching MONDO:0008277 stomach polyp NCIT:C3954 MONDO:equivalentTo Gastric Polyp semapv:UnspecifiedMatching MONDO:0008315 prostate cancer NCIT:C7378 MONDO:equivalentTo Malignant Prostate Neoplasm semapv:UnspecifiedMatching -MONDO:0008332 pseudo-von Willebrand disease NCIT:C131681 MONDO:equivalentTo Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 NCIT:C27049 MONDO:equivalentTo Congenital Eyelid Ptosis semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect NCIT:C99033 MONDO:equivalentTo Pulmonary Valve Atresia with Ventricular Septal Defect semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease NCIT:C116359 MONDO:equivalentTo Secondary Raynaud Phenomenon semapv:UnspecifiedMatching @@ -1051,6 +1052,7 @@ MONDO:0012089 ichthyosis prematurity syndrome NCIT:C62590 MONDO:equivalentTo Idi MONDO:0012105 granulomatosis with polyangiitis NCIT:C123111 MONDO:equivalentTo Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head NCIT:C35480 MONDO:equivalentTo Aseptic Necrosis of Femoral Head semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K NCIT:C133730 MONDO:equivalentTo Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching +MONDO:0012249 Lynch syndrome 2 NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency NCIT:C98863 MONDO:equivalentTo Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism NCIT:C131839 MONDO:equivalentTo Monocarboxylate Transporter 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia NCIT:C35172 MONDO:equivalentTo Congenital Aphakia semapv:UnspecifiedMatching @@ -1572,7 +1574,9 @@ MONDO:0100505 food dermatitis NCIT:C34534 MONDO:equivalentTo Dermatitis due to F MONDO:0100514 familial ovarian carcinoma NCIT:C36102 MONDO:equivalentTo Hereditary Ovarian Carcinoma semapv:UnspecifiedMatching MONDO:0200000 uterine ligament adenosarcoma NCIT:C102570 MONDO:equivalentTo Broad Ligament Adenosarcoma semapv:UnspecifiedMatching MONDO:0600029 restrictive pulmonary disease NCIT:C91762 MONDO:equivalentTo Restrictive Lung Disease semapv:UnspecifiedMatching +MONDO:0700048 hand-foot syndrome NCIT:C27177 MONDO:equivalentTo Palmar-Plantar Erythrodysthesia semapv:UnspecifiedMatching MONDO:0700051 liver abscess (disease) NCIT:C99089 MONDO:equivalentTo Liver Abscess semapv:UnspecifiedMatching MONDO:0700092 neurodevelopmental disorder NCIT:C1535926 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0700219 neoplastic meningitis NCIT:C3814 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Leptomeninges semapv:UnspecifiedMatching MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease NCIT:C98889 MONDO:equivalentTo Congenital Central Hypoventilation semapv:UnspecifiedMatching MONDO:0800029 interstitial lung disease 2 NCIT:C35716 MONDO:equivalentTo Idiopathic Pulmonary Fibrosis semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv index a0d5b0bf..df7857f2 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo_exact.tsv @@ -1,7 +1,7 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000001 disease or disorder NCIT:C2991 MONDO:equivalentTo Disease or Disorder semapv:UnspecifiedMatching MONDO:0000147 polyposis NCIT:C4089 MONDO:equivalentTo Polyposis semapv:UnspecifiedMatching +MONDO:0000159 bone marrow failure syndrome NCIT:C165614 MONDO:equivalentTo Bone Marrow Failure Syndrome semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor NCIT:C4213 MONDO:equivalentTo Malignant Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor NCIT:C67006 MONDO:equivalentTo Malignant Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma NCIT:C6014 MONDO:equivalentTo Paranasal Sinus Carcinoma semapv:UnspecifiedMatching @@ -72,6 +72,7 @@ MONDO:0002058 breast adenoma NCIT:C40382 MONDO:equivalentTo Breast Adenoma semap MONDO:0002063 breast papillomatosis NCIT:C6977 MONDO:equivalentTo Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis NCIT:C40381 MONDO:equivalentTo Breast Angiomatosis semapv:UnspecifiedMatching MONDO:0002083 Richter syndrome NCIT:C35424 MONDO:equivalentTo Richter Syndrome semapv:UnspecifiedMatching +MONDO:0002127 urethral stricture NCIT:C79821 MONDO:equivalentTo Urethral Stricture semapv:UnspecifiedMatching MONDO:0002155 cholecystitis NCIT:C34465 MONDO:equivalentTo Cholecystitis semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm NCIT:C3350 MONDO:equivalentTo Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor NCIT:C3055 MONDO:equivalentTo Giant Cell Tumor semapv:UnspecifiedMatching @@ -329,6 +330,7 @@ MONDO:0004530 early invasive cervical adenocarcinoma NCIT:C36096 MONDO:equivalen MONDO:0004558 thyroid gland macrofollicular adenoma NCIT:C4161 MONDO:equivalentTo Thyroid Gland Macrofollicular Adenoma semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration NCIT:C34979 MONDO:equivalentTo Retinal Degeneration semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia NCIT:C34356 MONDO:equivalentTo Acute Intestinal Ischemia semapv:UnspecifiedMatching +MONDO:0004634 vein disorder NCIT:C35279 MONDO:equivalentTo Vein Disorder semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma NCIT:C26919 MONDO:equivalentTo Lymphosarcoma semapv:UnspecifiedMatching MONDO:0004651 smallpox NCIT:C35027 MONDO:equivalentTo Smallpox semapv:UnspecifiedMatching MONDO:0004701 uterine polyp NCIT:C3662 MONDO:equivalentTo Uterine Polyp semapv:UnspecifiedMatching @@ -389,6 +391,7 @@ MONDO:0005454 lung neuroendocrine neoplasm NCIT:C5670 MONDO:equivalentTo Lung Ne MONDO:0005462 primitive neuroectodermal tumor NCIT:C3716 MONDO:equivalentTo Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder NCIT:C63709 MONDO:equivalentTo Temporomandibular Joint Disorder semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia NCIT:C35481 MONDO:equivalentTo Atrial Tachycardia semapv:UnspecifiedMatching +MONDO:0005483 chemotherapy-induced alopecia NCIT:C164162 MONDO:equivalentTo Chemotherapy-Induced Alopecia semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma NCIT:C71732 MONDO:equivalentTo Triple-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma NCIT:C35765 MONDO:equivalentTo Histiocytoma semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome NCIT:C53652 MONDO:equivalentTo Acute Coronary Syndrome semapv:UnspecifiedMatching @@ -422,6 +425,7 @@ MONDO:0006041 lung carcinoid tumor NCIT:C4038 MONDO:equivalentTo Lung Carcinoid MONDO:0006042 meningeal tuberculosis NCIT:C84888 MONDO:equivalentTo Meningeal Tuberculosis semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm NCIT:C3674 MONDO:equivalentTo Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor NCIT:C3794 MONDO:equivalentTo Sex Cord-Stromal Tumor semapv:UnspecifiedMatching +MONDO:0006060 nasopharyngeal squamous cell carcinoma NCIT:C167265 MONDO:equivalentTo Nasopharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma NCIT:C3736 MONDO:equivalentTo Adrenal Gland Myelolipoma semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma NCIT:C4827 MONDO:equivalentTo Adrenal Gland Neuroblastoma semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia NCIT:C35838 MONDO:equivalentTo Adrenal Medullary Hyperplasia semapv:UnspecifiedMatching @@ -596,6 +600,7 @@ MONDO:0006470 tonsillar squamous cell carcinoma NCIT:C8183 MONDO:equivalentTo To MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant NCIT:C6497 MONDO:equivalentTo Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma NCIT:C40261 MONDO:equivalentTo Vaginal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma NCIT:C40278 MONDO:equivalentTo Vaginal Carcinosarcoma semapv:UnspecifiedMatching +MONDO:0006490 vaginal squamous cell carcinoma NCIT:C180915 MONDO:equivalentTo Vaginal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus NCIT:C27723 MONDO:equivalentTo Vulvar Lichen Sclerosus semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor NCIT:C2854 MONDO:equivalentTo Warthin Tumor semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy NCIT:C34460 MONDO:equivalentTo Cerebral Palsy semapv:UnspecifiedMatching @@ -628,6 +633,7 @@ MONDO:0006883 malignant superior sulcus neoplasm NCIT:C7527 MONDO:equivalentTo M MONDO:0006886 thyroid gland papillary and follicular carcinoma NCIT:C7380 MONDO:equivalentTo Thyroid Gland Papillary and Follicular Carcinoma semapv:UnspecifiedMatching MONDO:0006889 paraphimosis NCIT:C34893 MONDO:equivalentTo Paraphimosis semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma NCIT:C3916 MONDO:equivalentTo Parathyroid Gland Adenoma semapv:UnspecifiedMatching +MONDO:0006890 parathyroid gland adenoma NCIT:C156757 MONDO:equivalentTo Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus NCIT:C4751 MONDO:equivalentTo Pigmented Spindle Cell Nevus semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever NCIT:C34971 MONDO:equivalentTo Rat-Bite Fever semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion NCIT:C34978 MONDO:equivalentTo Retinal Artery Occlusion semapv:UnspecifiedMatching @@ -644,6 +650,7 @@ MONDO:0007838 Jacobsen syndrome NCIT:C75457 MONDO:equivalentTo Jacobsen Syndrome MONDO:0007886 uterine corpus leiomyoma NCIT:C3434 MONDO:equivalentTo Uterine Corpus Leiomyoma semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 NCIT:C75459 MONDO:equivalentTo Noonan Syndrome 1 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid NCIT:C84939 MONDO:equivalentTo Ocular Cicatricial Pemphigoid semapv:UnspecifiedMatching +MONDO:0008332 platelet-type von Willebrand disease NCIT:C131681 MONDO:equivalentTo Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I NCIT:C75109 MONDO:equivalentTo Trichorhinophalangeal Syndrome Type I semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome NCIT:C35528 MONDO:equivalentTo Wolf-Hirschhorn Syndrome semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis NCIT:C84572 MONDO:equivalentTo Arthrogryposis semapv:UnspecifiedMatching @@ -670,6 +677,7 @@ MONDO:0011644 pars planitis NCIT:C34903 MONDO:equivalentTo Pars Planitis semapv: MONDO:0011786 allergic rhinitis NCIT:C79532 MONDO:equivalentTo Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0012000 specific phobia NCIT:C35284 MONDO:equivalentTo Specific Phobia semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma NCIT:C4906 MONDO:equivalentTo Parathyroid Gland Carcinoma semapv:UnspecifiedMatching +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome NCIT:C179668 MONDO:equivalentTo Capillary Malformation-Arteriovenous Malformation Syndrome semapv:UnspecifiedMatching MONDO:0012048 endogenous depression NCIT:C34532 MONDO:equivalentTo Endogenous Depression semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis NCIT:C84762 MONDO:equivalentTo Herpes Simplex Encephalitis semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss NCIT:C34664 MONDO:equivalentTo Noise Induced Hearing Loss semapv:UnspecifiedMatching @@ -686,6 +694,7 @@ MONDO:0015540 hemophagocytic syndrome NCIT:C35439 MONDO:equivalentTo Hemophagocy MONDO:0015612 Dent disease NCIT:C123260 MONDO:equivalentTo Dent Disease semapv:UnspecifiedMatching MONDO:0015733 low anorectal malformation NCIT:C98975 MONDO:equivalentTo Low Anorectal Malformation semapv:UnspecifiedMatching MONDO:0015808 folliculotropic mycosis fungoides NCIT:C35685 MONDO:equivalentTo Folliculotropic Mycosis Fungoides semapv:UnspecifiedMatching +MONDO:0015967 monogenic diabetes NCIT:C129739 MONDO:equivalentTo Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0015986 bilateral renal agenesis NCIT:C101219 MONDO:equivalentTo Bilateral Renal Agenesis semapv:UnspecifiedMatching MONDO:0016095 vaginal rhabdomyosarcoma NCIT:C128080 MONDO:equivalentTo Vaginal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0016238 solitary fibrous tumor NCIT:C7634 MONDO:equivalentTo Solitary Fibrous Tumor semapv:UnspecifiedMatching @@ -711,12 +720,14 @@ MONDO:0018626 paratyphoid fever NCIT:C34897 MONDO:equivalentTo Paratyphoid Fever MONDO:0018690 Holmes-Adie syndrome NCIT:C34357 MONDO:equivalentTo Holmes-Adie Syndrome semapv:UnspecifiedMatching MONDO:0018919 McCune-Albright syndrome NCIT:C48627 MONDO:equivalentTo McCune-Albright Syndrome semapv:UnspecifiedMatching MONDO:0018965 Alport syndrome NCIT:C34842 MONDO:equivalentTo Alport Syndrome semapv:UnspecifiedMatching +MONDO:0018989 recurrent acute pancreatitis NCIT:C184324 MONDO:equivalentTo Recurrent Acute Pancreatitis semapv:UnspecifiedMatching MONDO:0019004 kidney Wilms tumor NCIT:C40407 MONDO:equivalentTo Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0019026 autosomal recessive osteopetrosis NCIT:C129733 MONDO:equivalentTo Autosomal Recessive Osteopetrosis semapv:UnspecifiedMatching MONDO:0019100 neuromyelitis optica NCIT:C84934 MONDO:equivalentTo Neuromyelitis Optica semapv:UnspecifiedMatching MONDO:0019157 myelodysplastic syndrome with ring sideroblasts NCIT:C4036 MONDO:equivalentTo Myelodysplastic Syndrome with Ring Sideroblasts semapv:UnspecifiedMatching MONDO:0019175 primary lymphedema NCIT:C48829 MONDO:equivalentTo Primary Lymphedema semapv:UnspecifiedMatching MONDO:0019186 Q fever NCIT:C34970 MONDO:equivalentTo Q Fever semapv:UnspecifiedMatching +MONDO:0019288 skin pigmentation disorder NCIT:C34557 MONDO:equivalentTo Skin Pigmentation Disorder semapv:UnspecifiedMatching MONDO:0019402 beta thalassemia NCIT:C34375 MONDO:equivalentTo Beta Thalassemia semapv:UnspecifiedMatching MONDO:0019452 myeloproliferative neoplasm, unclassifiable NCIT:C27350 MONDO:equivalentTo Myeloproliferative Neoplasm, Unclassifiable semapv:UnspecifiedMatching MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia NCIT:C8574 MONDO:equivalentTo Myelodysplastic Syndrome with Multilineage Dysplasia semapv:UnspecifiedMatching @@ -750,6 +761,7 @@ MONDO:0020599 acquired coagulation factor deficiency NCIT:C34347 MONDO:equivalen MONDO:0020600 acute pharyngitis NCIT:C34355 MONDO:equivalentTo Acute Pharyngitis semapv:UnspecifiedMatching MONDO:0020601 mosquito-borne viral encephalitis NCIT:C34823 MONDO:equivalentTo Mosquito-Borne Viral Encephalitis semapv:UnspecifiedMatching MONDO:0020644 lung non-Hodgkin lymphoma NCIT:C5684 MONDO:equivalentTo Lung Non-Hodgkin Lymphoma semapv:UnspecifiedMatching +MONDO:0020645 autosomal dominant osteopetrosis NCIT:C129732 MONDO:equivalentTo Autosomal Dominant Osteopetrosis semapv:UnspecifiedMatching MONDO:0020649 warty carcinoma of the penis NCIT:C6981 MONDO:equivalentTo Warty Carcinoma of the Penis semapv:UnspecifiedMatching MONDO:0020653 vaginal adenocarcinoma NCIT:C7981 MONDO:equivalentTo Vaginal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0020657 human papillomavirus-related squamous cell carcinoma NCIT:C27683 MONDO:equivalentTo Human Papillomavirus-Related Squamous Cell Carcinoma semapv:UnspecifiedMatching @@ -884,6 +896,7 @@ MONDO:0023089 erythroplakia NCIT:C3025 MONDO:equivalentTo Erythroplakia semapv:U MONDO:0023283 ovarian granulosa cell tumor NCIT:C6261 MONDO:equivalentTo Ovarian Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0023483 infectious myositis NCIT:C26984 MONDO:equivalentTo Infectious Myositis semapv:UnspecifiedMatching MONDO:0023528 KSHV inflammatory cytokine syndrome NCIT:C125711 MONDO:equivalentTo KSHV Inflammatory Cytokine Syndrome semapv:UnspecifiedMatching +MONDO:0023597 laryngeal papillomatosis NCIT:C157733 MONDO:equivalentTo Laryngeal Papillomatosis semapv:UnspecifiedMatching MONDO:0023601 non-classic congenital adrenal hyperplasia NCIT:C131442 MONDO:equivalentTo Non-Classic Congenital Adrenal Hyperplasia semapv:UnspecifiedMatching MONDO:0023619 lentigo maligna melanoma NCIT:C9151 MONDO:equivalentTo Lentigo Maligna Melanoma semapv:UnspecifiedMatching MONDO:0023644 lip and oral cavity carcinoma NCIT:C9315 MONDO:equivalentTo Lip and Oral Cavity Carcinoma semapv:UnspecifiedMatching @@ -1025,6 +1038,7 @@ MONDO:0043218 neurovascular disorder NCIT:C117007 MONDO:equivalentTo Neurovascul MONDO:0043243 leukoplakia NCIT:C3186 MONDO:equivalentTo Leukoplakia semapv:UnspecifiedMatching MONDO:0043251 odontoma NCIT:C3287 MONDO:equivalentTo Odontoma semapv:UnspecifiedMatching MONDO:0043287 superior vena cava syndrome NCIT:C3396 MONDO:equivalentTo Superior Vena Cava Syndrome semapv:UnspecifiedMatching +MONDO:0043300 actinic cheilitis NCIT:C183562 MONDO:equivalentTo Actinic Cheilitis semapv:UnspecifiedMatching MONDO:0043346 progressive transformation of germinal centers NCIT:C38408 MONDO:equivalentTo Progressive Transformation of Germinal Centers semapv:UnspecifiedMatching MONDO:0043349 intravascular papillary endothelial hyperplasia NCIT:C4391 MONDO:equivalentTo Intravascular Papillary Endothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0043355 collagenous gastritis NCIT:C122082 MONDO:equivalentTo Collagenous Gastritis semapv:UnspecifiedMatching @@ -1038,6 +1052,7 @@ MONDO:0043544 nosocomial infection NCIT:C115164 MONDO:equivalentTo Nosocomial In MONDO:0043576 endarteritis NCIT:C34581 MONDO:equivalentTo Endarteritis semapv:UnspecifiedMatching MONDO:0043579 enteritis NCIT:C26765 MONDO:equivalentTo Enteritis semapv:UnspecifiedMatching MONDO:0043683 Leriche syndrome NCIT:C34773 MONDO:equivalentTo Leriche Syndrome semapv:UnspecifiedMatching +MONDO:0043726 multiple organ dysfunction syndrome NCIT:C179648 MONDO:equivalentTo Multiple Organ Dysfunction Syndrome semapv:UnspecifiedMatching MONDO:0043731 lytic metastatic bone lesion NCIT:C35371 MONDO:equivalentTo Lytic Metastatic Bone Lesion semapv:UnspecifiedMatching MONDO:0043735 osteoradionecrosis NCIT:C63707 MONDO:equivalentTo Osteoradionecrosis semapv:UnspecifiedMatching MONDO:0043762 tubal pregnancy NCIT:C92946 MONDO:equivalentTo Tubal Pregnancy semapv:UnspecifiedMatching @@ -1090,6 +1105,8 @@ MONDO:0044925 oral cavity carcinoma NCIT:C8990 MONDO:equivalentTo Oral Cavity Ca MONDO:0044937 rectal carcinoma NCIT:C9382 MONDO:equivalentTo Rectal Carcinoma semapv:UnspecifiedMatching MONDO:0044964 oral cavity mucoepidermoid carcinoma NCIT:C8177 MONDO:equivalentTo Oral Cavity Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0045048 toxemia of pregnancy NCIT:C34943 MONDO:equivalentTo Toxemia of Pregnancy semapv:UnspecifiedMatching +MONDO:0045050 nuclear cataract NCIT:C135176 MONDO:equivalentTo Nuclear Cataract semapv:UnspecifiedMatching +MONDO:0045051 cortical cataract NCIT:C135177 MONDO:equivalentTo Cortical Cataract semapv:UnspecifiedMatching MONDO:0045052 benign osteogenic neoplasm NCIT:C6602 MONDO:equivalentTo Benign Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO:0045053 osteogenic neoplasm NCIT:C6603 MONDO:equivalentTo Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO:0045054 cancer-related condition NCIT:C8278 MONDO:equivalentTo Cancer-Related Condition semapv:UnspecifiedMatching @@ -1113,13 +1130,19 @@ MONDO:0060783 classic congenital adrenal hyperplasia NCIT:C131423 MONDO:equivale MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements NCIT:C178236 MONDO:equivalentTo Intraosseous Spindle Cell Rhabdomyosarcoma with TFCP2/NCOA2 Rearrangements semapv:UnspecifiedMatching MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements NCIT:C178232 MONDO:equivalentTo Congenital/Infantile Spindle Cell Rhabdomyosarcoma with VGLL2/NCOA2/CITED2 Rearrangements semapv:UnspecifiedMatching MONDO:0100067 childhood spindle cell rhabdomyosarcoma NCIT:C123397 MONDO:equivalentTo Childhood Spindle Cell Rhabdomyosarcoma semapv:UnspecifiedMatching +MONDO:0100137 telomere syndrome NCIT:C152065 MONDO:equivalentTo Telomere Syndrome semapv:UnspecifiedMatching MONDO:0100151 nephropathic cystinosis NCIT:C129932 MONDO:equivalentTo Nephropathic Cystinosis semapv:UnspecifiedMatching MONDO:0100192 liver failure NCIT:C26922 MONDO:equivalentTo Liver Failure semapv:UnspecifiedMatching +MONDO:0100285 extrahepatic biliary atresia NCIT:C97069 MONDO:equivalentTo Extrahepatic Biliary Atresia semapv:UnspecifiedMatching MONDO:0100290 colon serrated polyposis NCIT:C96470 MONDO:equivalentTo Colon Serrated Polyposis semapv:UnspecifiedMatching MONDO:0100310 hereditary cerebellar ataxia NCIT:C140268 MONDO:equivalentTo Hereditary Cerebellar Ataxia semapv:UnspecifiedMatching MONDO:0100470 reactive airway disease NCIT:C113673 MONDO:equivalentTo Reactive Airway Disease semapv:UnspecifiedMatching +MONDO:0100482 extensively drug-resistant tuberculosis NCIT:C128417 MONDO:equivalentTo Extensively Drug-Resistant Tuberculosis semapv:UnspecifiedMatching MONDO:0600002 hemorrhagic fever NCIT:C36169 MONDO:equivalentTo Hemorrhagic Fever semapv:UnspecifiedMatching +MONDO:0700058 Morton neuroma NCIT:C4075 MONDO:equivalentTo Morton Neuroma semapv:UnspecifiedMatching +MONDO:0700082 Robertsonian translocation Down syndrome NCIT:C188150 MONDO:equivalentTo Robertsonian Translocation Down Syndrome semapv:UnspecifiedMatching MONDO:0700086 uniparental disomy NCIT:C85215 MONDO:equivalentTo Uniparental Disomy semapv:UnspecifiedMatching +MONDO:0700092 neurodevelopmental disorder NCIT:C89338 MONDO:equivalentTo Neurodevelopmental Disorder semapv:UnspecifiedMatching MONDO:0700134 bovine neoplasm NCIT:C134527 MONDO:equivalentTo Bovine Neoplasm semapv:UnspecifiedMatching MONDO:0700136 bovine protoporphyria NCIT:C131472 MONDO:equivalentTo Bovine Protoporphyria semapv:UnspecifiedMatching MONDO:0700138 bovine rectal myxoma NCIT:C134768 MONDO:equivalentTo Bovine Rectal Myxoma semapv:UnspecifiedMatching @@ -1181,4 +1204,8 @@ MONDO:0700196 fish melanoma NCIT:C135006 MONDO:equivalentTo Fish Melanoma semapv MONDO:0700197 porcine leukemia NCIT:C141365 MONDO:equivalentTo Porcine Leukemia semapv:UnspecifiedMatching MONDO:0700198 porcine lymphoma NCIT:C134786 MONDO:equivalentTo Porcine Lymphoma semapv:UnspecifiedMatching MONDO:0700199 sheep lung adenocarcinoma NCIT:C147532 MONDO:equivalentTo Sheep Lung Adenocarcinoma semapv:UnspecifiedMatching +MONDO:0700218 group B streptococcal infection NCIT:C87168 MONDO:equivalentTo Group B Streptococcal Infection semapv:UnspecifiedMatching +MONDO:0800106 disruptive behavior disorder NCIT:C99753 MONDO:equivalentTo Disruptive Behavior Disorder semapv:UnspecifiedMatching +MONDO:0800113 necrotizing vasculitis NCIT:C70635 MONDO:equivalentTo Necrotizing Vasculitis semapv:UnspecifiedMatching +MONDO:0800133 pulmonary hypoplasia NCIT:C99035 MONDO:equivalentTo Pulmonary Hypoplasia semapv:UnspecifiedMatching MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome NCIT:C39577 MONDO:equivalentTo Type 3 Autoimmune Lymphoproliferative Syndrome semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 98af7110..fd1b2102 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -83,6 +83,7 @@ MONDO:0002010 FG syndrome OMIMPS:305400 MONDO:equivalentTo semapv:UnspecifiedMa MONDO:0002070 ventricular septal defect OMIMPS:614429 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome OMIMPS:256300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia OMIMPS:237450 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0002412 disorder of glycogen metabolism OMIMPS:232200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome OMIMPS:220400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome OMIMPS:154500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria OMIMPS:259900 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -106,7 +107,6 @@ MONDO:0005144 familial amyotrophic lateral sclerosis OMIMPS:105400 MONDO:equival MONDO:0005150 age-related macular degeneration OMIMPS:603075 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease OMIMPS:168600 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease OMIMPS:266600 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0005281 gallbladder disorder OMIMPS:600803 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy OMIMPS:136800 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis OMIMPS:161950 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005345 hypospadias OMIMPS:300633 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -121,6 +121,7 @@ MONDO:0005500 congenital disorder of glycosylation type I OMIMPS:212065 MONDO:eq MONDO:0005501 congenital disorder of glycosylation type II OMIMPS:212066 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia OMIMPS:600165 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized OMIMPS:600669 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0005711 congenital diaphragmatic hernia OMIMPS:142340 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus OMIMPS:310700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia OMIMPS:256450 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome OMIMPS:236680 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -139,6 +140,7 @@ MONDO:0007101 familial primary localized cutaneous amyloidosis OMIMPS:105250 MON MONDO:0007119 isolated aniridia OMIMPS:106210 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome OMIMPS:107480 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0007175 PR interval, variation in OMIM:108980 MONDO:equivalentTo pr interval, variation 1n semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve OMIMPS:109730 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome OMIMPS:115430 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome OMIMPS:118450 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -151,7 +153,6 @@ MONDO:0007379 Meesmann corneal dystrophy OMIMPS:122100 MONDO:equivalentTo semap MONDO:0007380 lattice corneal dystrophy type I OMIM:122200 MONDO:equivalentTo corneal dystrophy, lattice iia 1 semapv:UnspecifiedMatching MONDO:0007386 obsolete human coronavirus sensitivity OMIM:122460 MONDO:equivalentTo human coronavirus sensitivity semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 OMIM:124000 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching -MONDO:0007418 Darwinian tubercle of pinna OMIM:124400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy OMIMPS:125310 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal OMIM:125800 MONDO:equivalentTo diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching MONDO:0007462 multiple sclerosis, susceptibility to OMIMPS:126200 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -162,21 +163,17 @@ MONDO:0007506 obsoleted echo virus 11 sensitivity OMIM:129150 MONDO:equivalentTo MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type OMIM:131950 MONDO:equivalentTo epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching MONDO:0007602 obsolete favism, susceptibility to OMIM:134700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles OMIMPS:135700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007617 Coffin-Siris syndrome 1 OMIM:614562 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007617 Coffin-Siris syndrome 1 OMIM:609943 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) OMIM:136580 MONDO:equivalentTo fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type OMIM:136630 MONDO:equivalentTo intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia OMIM:137560 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy OMIMPS:137950 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007777 hypertaurinuric cardiomyopathy OMIM:145350 MONDO:equivalentTo hypotaurinemic retinal degeneration and cardiomyopathy semapv:UnspecifiedMatching -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome OMIM:145410 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia, familial OMIM:145750 MONDO:equivalentTo hypertriglyceridemia 1 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 OMIM:146200 MONDO:equivalentTo hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots OMIM:146400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin OMIM:146590 MONDO:equivalentTo ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:146840 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0007872 LADD syndrome OMIMPS:149730 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines OMIMPS:151100 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0007903 Li-Fraumeni syndrome 1 OMIM:609266 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy OMIM:153870 MONDO:equivalentTo retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type OMIM:156230 MONDO:equivalentTo mesomelic dwarfism of hypoplastic tibia and radius iia semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type OMIM:156400 MONDO:equivalentTo metaphyseal chondrodysplasia, jansen iia semapv:UnspecifiedMatching @@ -197,7 +194,6 @@ MONDO:0008163 otofaciocervical syndrome OMIMPS:166780 MONDO:equivalentTo semapv MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis OMIM:168850 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 OMIM:174050 MONDO:equivalentTo polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM:175510 MONDO:equivalentTo gist-plus syndrome semapv:UnspecifiedMatching -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies OMIM:607595 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome OMIMPS:177200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome OMIMPS:180860 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type OMIM:180950 MONDO:equivalentTo salivary substance, clostridium botulinum iia semapv:UnspecifiedMatching @@ -207,9 +203,7 @@ MONDO:0008429 Singleton-Merten dysplasia OMIMPS:182250 MONDO:equivalentTo semap MONDO:0008448 spheroid body myopathy OMIM:182920 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type OMIM:184095 MONDO:equivalentTo spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type OMIM:184252 MONDO:equivalentTo spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:277610 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism OMIMPS:185800 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008523 Blau syndrome OMIM:609464 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008548 obsolete theophylline Biotransformation OMIM:187650 MONDO:equivalentTo theophylline biotransformation semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N OMIM:191530 MONDO:equivalentTo urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of OMIM:191800 MONDO:equivalentTo bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching @@ -218,10 +212,8 @@ MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type OMIM:201250 MONDO MONDO:0008733 familial glucocorticoid deficiency OMIMPS:202200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome OMIMPS:203650 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome OMIM:203780 MONDO:equivalentTo alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria OMIM:245130 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence OMIMPS:208150 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia OMIMPS:210250 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0008885 Elsahy-Waters syndrome OMIM:603463 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency OMIMPS:211530 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental OMIM:212093 MONDO:equivalentTo cardiac valvular dysplasia 1 semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome OMIMPS:214150 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -239,14 +231,11 @@ MONDO:0009117 obsolete disorganization, mouse, homolog of OMIM:223200 MONDO:equi MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium OMIMPS:224050 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia OMIM:224410 MONDO:equivalentTo dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type OMIM:225320 MONDO:equivalentTo ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching -MONDO:0009194 immunodeficiency 32B OMIM:614894 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome OMIMPS:229200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency OMIM:230450 MONDO:equivalentTo gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 OMIM:230600 MONDO:equivalentTo gm1-gangliosidosis, iia 2 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 OMIM:230650 MONDO:equivalentTo gm1-gangliosidosis, iia 3 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis OMIMPS:233300 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome OMIM:233430 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis OMIM:233670 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus OMIM:236690 MONDO:equivalentTo hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia OMIM:241510 MONDO:equivalentTo hypophosphatasia, childhood semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome OMIM:241800 MONDO:equivalentTo pallister-hall-like syndrome semapv:UnspecifiedMatching @@ -262,7 +251,6 @@ MONDO:0009626 pseudo-TORCH syndrome OMIMPS:251290 MONDO:equivalentTo semapv:Uns MONDO:0009627 Galloway-Mowat syndrome OMIMPS:251300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B OMIM:253601 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching -MONDO:0009679 arthrogryposis due to muscular dystrophy OMIM:253900 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy OMIMPS:254130 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy OMIMPS:254770 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome OMIMPS:256040 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -273,32 +261,25 @@ MONDO:0009833 Shwachman-Diamond syndrome OMIMPS:260400 MONDO:equivalentTo semap MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM:260570 MONDO:equivalentTo immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome OMIMPS:261100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 OMIM:263450 MONDO:equivalentTo polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching -MONDO:0009901 Bartsocas-Papas syndrome OMIM:263650 MONDO:equivalentTo bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, autosomal recessive OMIM:265400 MONDO:equivalentTo pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease OMIMPS:265450 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome OMIMPS:268400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability OMIM:270600 MONDO:equivalentTo spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type OMIM:271650 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, irapa iia semapv:UnspecifiedMatching -MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis OMIM:278100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome OMIM:278800 MONDO:equivalentTo lange sanctis-cacchione syndrome semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A OMIM:300071 MONDO:equivalentTo night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching MONDO:0010244 CGF1 OMIM:300082 MONDO:equivalentTo cognitive function 1, social semapv:UnspecifiedMatching -MONDO:0010258 MEHMO syndrome OMIM:300987 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency OMIM:300274 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency OMIMPS:300291 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome OMIM:300301 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 OMIM:300372 MONDO:equivalentTo intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching -MONDO:0010327 HSD10 mitochondrial disease OMIM:300220 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome OMIM:300455 MONDO:equivalentTo retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome OMIM:300471 MONDO:equivalentTo cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM:300491 MONDO:equivalentTo epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 OMIM:300494 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 OMIM:300497 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 OMIM:300498 MONDO:equivalentTo intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia OMIM:300584 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 OMIM:300640 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome OMIM:300660 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic OMIM:300834 MONDO:equivalentTo macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching @@ -314,12 +295,9 @@ MONDO:0010510 intellectual disability, X-linked 105 OMIM:300984 MONDO:equivalent MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type OMIM:300986 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, bain iia semapv:UnspecifiedMatching MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome OMIM:301590 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type OMIM:302000 MONDO:equivalentTo bullous dystrophy, hereditary macular iia semapv:UnspecifiedMatching -MONDO:0010600 granulomatous disease, chronic, X-linked OMIM:138990 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010666 obsolete Miles-Carpenter syndrome OMIM:309605 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies OMIMPS:309801 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010720 partial androgen insensitivity syndrome OMIM:307300 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010720 partial androgen insensitivity syndrome OMIM:312100 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked OMIM:400004 MONDO:equivalentTo retinitis pigmentosa, Y-linked semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis OMIMPS:400044 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010804 obsolete BRCATA OMIM:600048 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -327,12 +305,9 @@ MONDO:0010826 childhood absence epilepsy OMIMPS:600131 MONDO:equivalentTo semap MONDO:0010846 exostoses, multiple, type III OMIM:600209 MONDO:equivalentTo exostoses, multiple, iia 3 semapv:UnspecifiedMatching MONDO:0010859 atrioventricular septal defect 3 OMIM:600309 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type OMIM:600593 MONDO:equivalentTo craniosynostosis, adelaide iia semapv:UnspecifiedMatching -MONDO:0010911 prolactin-producing pituitary gland adenoma OMIM:600634 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010920 microtia OMIM:600674 MONDO:equivalentTo microtia-anotia semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria OMIMPS:600721 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B OMIM:600785 MONDO:equivalentTo vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM:614696 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010957 agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations OMIM:600908 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB OMIM:600972 MONDO:equivalentTo achondrogenesis, iia 1b semapv:UnspecifiedMatching MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 OMIM:600996 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 OMIM:601101 MONDO:equivalentTo telangiectasia, hereditary hemorrhagic, iia 3 semapv:UnspecifiedMatching @@ -347,9 +322,7 @@ MONDO:0011187 polydactyly, postaxial, type A2 OMIM:602085 MONDO:equivalentTo pol MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type OMIM:602557 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, shohat iia semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 OMIM:603285 MONDO:equivalentTo cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II OMIM:603592 MONDO:equivalentTo xanthinuria, iia 2 semapv:UnspecifiedMatching -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure OMIM:607569 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia OMIM:603902 MONDO:equivalentTo beta-thalassemia, dominant inclusion body iia semapv:UnspecifiedMatching -MONDO:0011401 Alzheimer disease without neurofibrillary tangles OMIM:611155 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E OMIM:604286 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder OMIMPS:604391 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 OMIM:604841 MONDO:equivalentTo stickler syndrome, iia 2 semapv:UnspecifiedMatching @@ -362,24 +335,22 @@ MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminas MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type OMIM:605946 MONDO:equivalentTo metaphyseal dysplasia, braun-tinschert iia semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG OMIM:606483 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2gg semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease, type 2 OMIM:606631 MONDO:equivalentTo camurati-engelmann disease, iia 2 semapv:UnspecifiedMatching +MONDO:0011704 obsolete glaucoma 1, open angle, B OMIM:606689 MONDO:equivalentTo glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM:606721 MONDO:equivalentTo lipodystrophy, familial partial, iia 7 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 OMIM:606785 MONDO:equivalentTo crigler-najjar syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome OMIM:607080 MONDO:equivalentTo 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia OMIMPS:607095 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011806 osteofibrous dysplasia OMIM:609143 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis OMIMPS:607313 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus OMIMPS:607411 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis OMIM:613832 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0011870 annular epidermolytic ichthyosis OMIMPS:607602 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy OMIMPS:607631 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair OMIMPS:607721 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults OMIM:607847 MONDO:equivalentTo neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation OMIM:271550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal OMIM:608013 MONDO:equivalentTo gaucher disease, perinatal lethal semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B OMIM:608088 MONDO:equivalentTo neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome OMIMPS:608354 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012017 Parkes Weber syndrome OMIM:608355 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F OMIM:608423 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 OMIM:608443 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A OMIM:608471 MONDO:equivalentTo corneal dystrophy, lattice iia 3a semapv:UnspecifiedMatching @@ -393,14 +364,12 @@ MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:e MONDO:0012185 spondylometaphyseal dysplasia, A4 type OMIM:609052 MONDO:equivalentTo spondylometaphyseal dysplasia, iia a4 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G OMIM:609115 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 OMIM:609161 MONDO:equivalentTo striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching -MONDO:0012215 myofibrillar myopathy 3 OMIM:159000 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type OMIM:609223 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 OMIM:609241 MONDO:equivalentTo schindler disease, iia 1 semapv:UnspecifiedMatching -MONDO:0012239 nemaline myopathy 1 OMIM:609284 MONDO:equivalentTo congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching -MONDO:0012247 spinocerebellar ataxia type 27 OMIM:609307 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012279 congenital muscular dystrophy merosin-positive OMIM:609456 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related OMIM:609535 MONDO:equivalentTo drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching -MONDO:0012337 glaucoma 1, open angle, I OMIM:609745 MONDO:equivalentTo glaucoma 1, open angle, 1 semapv:UnspecifiedMatching +MONDO:0012337 obsolete glaucoma 1, open angle, I OMIM:609745 MONDO:equivalentTo glaucoma 1, open angle, 1 semapv:UnspecifiedMatching +MONDO:0012357 obsolete glaucoma 1, open angle, G OMIM:609887 MONDO:equivalentTo glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type OMIM:610140 MONDO:equivalentTo heart-hand syndrome, slovenian iia semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome OMIMPS:610253 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 OMIM:610269 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -411,14 +380,14 @@ MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency OMIM:61079 MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 OMIM:610799 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis OMIMPS:265120 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 OMIM:611038 MONDO:equivalentTo microphthalmia, syndromic 16 semapv:UnspecifiedMatching +MONDO:0012646 obsolete glaucoma 1, open angle, H OMIM:611276 MONDO:equivalentTo glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L OMIM:611307 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome OMIM:611890 MONDO:equivalentTo congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 OMIM:611907 MONDO:equivalentTo episodic ataxia, iia 7 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 OMIM:611929 MONDO:equivalentTo camptodactyly syndrome, guadalajara, iia 3 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome OMIMPS:612199 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency OMIM:612260 MONDO:equivalentTo immunodeficiency 68 semapv:UnspecifiedMatching -MONDO:0012853 Fontaine progeroid syndrome OMIM:233500 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0012878 Cowden syndrome 2 OMIM:612359 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B OMIM:612389 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2b semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C OMIM:612390 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2c semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 OMIM:612526 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 3 semapv:UnspecifiedMatching @@ -431,7 +400,6 @@ MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-enc MONDO:0013144 hereditary antithrombin deficiency OMIM:613118 MONDO:equivalentTo antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile OMIMPS:613135 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive OMIM:613195 MONDO:equivalentTo weill-marchesani syndrome 4 semapv:UnspecifiedMatching -MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 OMIM:613244 MONDO:equivalentTo lynch syndrome 8 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary OMIM:613291 MONDO:equivalentTo bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 OMIM:613327 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy OMIMPS:613339 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -442,7 +410,6 @@ MONDO:0013360 brachyolmia, Maroteaux type OMIM:613678 MONDO:equivalentTo brachyo MONDO:0013374 supernumerary der(22)t(8;22) syndrome OMIM:613700 MONDO:equivalentTo supernumerary der(22)t(8 semapv:UnspecifiedMatching MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q OMIM:613723 MONDO:equivalentTo muscular dystrophy, limb-girdle, autosomal recessive 17 semapv:UnspecifiedMatching MONDO:0013464 episodic ataxia type 5 OMIM:613855 MONDO:equivalentTo episodic ataxia, iia 5 semapv:UnspecifiedMatching -MONDO:0013476 hypertrophic cardiomyopathy 19 OMIM:613875 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013586 obsolete Chitotriosidase deficiency OMIM:614122 MONDO:equivalentTo chitotriosidase deficiency semapv:UnspecifiedMatching MONDO:0013590 Stickler syndrome, type 4 OMIM:614134 MONDO:equivalentTo stickler syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 OMIM:614157 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -454,13 +421,9 @@ MONDO:0013630 Meckel syndrome, type 9 OMIM:614209 MONDO:equivalentTo meckel synd MONDO:0013666 Stickler syndrome, type 5 OMIM:614284 MONDO:equivalentTo stickler syndrome, iia 5 semapv:UnspecifiedMatching MONDO:0013686 distal myopathy, Tateyama type OMIM:614321 MONDO:equivalentTo myopathy, distal, tateyama iia semapv:UnspecifiedMatching MONDO:0013692 BAP1-related tumor predisposition syndrome OMIM:614327 MONDO:equivalentTo tumor predisposition syndrome 1 semapv:UnspecifiedMatching -MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 4 OMIM:614337 MONDO:equivalentTo lynch syndrome 4 semapv:UnspecifiedMatching MONDO:0013701 obsolete MRT32 OMIM:614339 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0013710 colorectal cancer, hereditary nonpolyposis, type 5 OMIM:614350 MONDO:equivalentTo lynch syndrome 5 semapv:UnspecifiedMatching MONDO:0013733 obsolete accelerated tumor formation, susceptibility to OMIM:614401 MONDO:equivalentTo accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching -MONDO:0013736 myopathy, centronuclear, 3 OMIM:614408 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013743 autosomal systemic lupus erythematosus type 16 OMIM:614420 MONDO:equivalentTo systemic lupus erythematosus 16 semapv:UnspecifiedMatching -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P OMIM:608591 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013787 psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures semapv:UnspecifiedMatching MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type OMIM:614557 MONDO:equivalentTo ehlers-danlos syndrome, kyphoscoliotic type, 2 semapv:UnspecifiedMatching MONDO:0013815 FGFR2-related bent bone dysplasia OMIM:614592 MONDO:equivalentTo bent bone dysplasia syndrome 1 semapv:UnspecifiedMatching @@ -472,14 +435,12 @@ MONDO:0013980 palmoplantar keratoderma, punctate type ib OMIM:614936 MONDO:equiv MONDO:0013981 myoclonus, familial OMIMPS:614937 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014016 hereditary spastic paraplegia 49 OMIM:615031 MONDO:equivalentTo neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay semapv:UnspecifiedMatching MONDO:0014017 autism, susceptibility to, 18 OMIM:615032 MONDO:equivalentTo intellectual developmental disorder with autism and macrocephaly semapv:UnspecifiedMatching -MONDO:0014045 Cowden syndrome 3 OMIM:615106 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM:615119 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 OMIM:615158 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 3 semapv:UnspecifiedMatching MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 OMIM:615159 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 4 semapv:UnspecifiedMatching MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 OMIM:615160 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 OMIM:615219 MONDO:equivalentTo hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome OMIM:616964 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014090 polydactyly, postaxial, type A6 OMIM:615226 MONDO:equivalentTo polydactyly, postaxial, iia a6 semapv:UnspecifiedMatching MONDO:0014099 nephrotic syndrome, type 8 OMIM:615244 MONDO:equivalentTo nephrotic syndrome, iia 8 semapv:UnspecifiedMatching MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures OMIM:615290 MONDO:equivalentTo spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching @@ -491,13 +452,11 @@ MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteris MONDO:0014186 retinitis pigmentosa with or without situs inversus OMIM:615434 MONDO:equivalentTo retinitis pigmentosa 82 with or without situs inversus semapv:UnspecifiedMatching MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 OMIM:615453 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506 MONDO:equivalentTo telangiectasia, hereditary hemorrhagic, iia 5 semapv:UnspecifiedMatching -MONDO:0014243 Schaaf-Yang syndrome OMIM:208080 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014257 nephrotic syndrome, type 9 OMIM:615573 MONDO:equivalentTo nephrotic syndrome, iia 9 semapv:UnspecifiedMatching MONDO:0014270 STT3A-congenital disorder of glycosylation OMIM:615596 MONDO:equivalentTo congenital disorder of glycosylation, iia iw, autosomal recessive semapv:UnspecifiedMatching MONDO:0014272 palmoplantar keratoderma, Nagashima type OMIM:615598 MONDO:equivalentTo palmoplantar keratoderma, nagashima iia semapv:UnspecifiedMatching MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching MONDO:0014331 Moyamoya disease with early-onset achalasia OMIM:615750 MONDO:equivalentTo moyamoya disease 6 with or without achalasia semapv:UnspecifiedMatching -MONDO:0014353 immunodeficiency 23 OMIM:216920 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 OMIM:615824 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 7 semapv:UnspecifiedMatching MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 OMIM:615838 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 8 semapv:UnspecifiedMatching MONDO:0014370 pontocerebellar hypoplasia type 2E OMIM:615851 MONDO:equivalentTo pontocerebellar hypoplasia, iia 2e semapv:UnspecifiedMatching @@ -539,7 +498,6 @@ MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 OMIM:616840 M MONDO:0014800 progressive scapulohumeroperoneal distal myopathy OMIM:616852 MONDO:equivalentTo myopathy, scapulohumeroperoneal semapv:UnspecifiedMatching MONDO:0014803 spasticity-ataxia-gait anomalies syndrome OMIM:616859 MONDO:equivalentTo spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching MONDO:0014804 sideroblastic anemia 3 OMIM:616860 MONDO:equivalentTo anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 OMIM:271225 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome OMIM:616871 MONDO:equivalentTo myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to semapv:UnspecifiedMatching MONDO:0014810 pancytopenia due to IKZF1 mutations OMIM:616873 MONDO:equivalentTo immunodeficiency, common variable, 13 semapv:UnspecifiedMatching MONDO:0014815 intellectual disability, autosomal recessive 52 OMIM:616887 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 52 semapv:UnspecifiedMatching @@ -608,9 +566,6 @@ MONDO:0015797 UV-sensitive syndrome OMIMPS:600630 MONDO:equivalentTo semapv:Uns MONDO:0015799 Smith-McCort dysplasia OMIMPS:607326 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015827 distal renal tubular acidosis OMIMPS:179800 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015855 isolated congenital breast hypoplasia/aplasia OMIMPS:113700 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:600208 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:153640 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:605249 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015942 frontometaphyseal dysplasia OMIMPS:305620 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015977 agammaglobulinemia OMIMPS:601495 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0015993 cone-rod dystrophy OMIMPS:120970 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -860,7 +815,6 @@ MONDO:0021094 immunodeficiency disease OMIMPS:300755 MONDO:equivalentTo semapv: MONDO:0021107 narcolepsy OMIMPS:161400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0021272 inherited orthostatic hypotension OMIMPS:223360 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0021547 amelogenesis imperfecta type 3B OMIM:617607 MONDO:equivalentTo amelogenesis imperfecta, iia 3b semapv:UnspecifiedMatching -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM:159001 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0021944 auditory neuropathy OMIMPS:609129 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome OMIM:163955 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0023880 WHIM syndrome OMIMPS:193670 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -901,7 +855,7 @@ MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type OMIM:619638 MONDO:e MONDO:0030524 mucopolysaccharidosis, type 10 OMIM:619698 MONDO:equivalentTo mucopolysaccharidosis, iia 10 semapv:UnspecifiedMatching MONDO:0030639 Teebi hypertelorism syndrome OMIMPS:145420 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I OMIM:619742 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1i semapv:UnspecifiedMatching -MONDO:0030711 anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive OMIM:619789 MONDO:equivalentTo anemia, congenital dyserythropoietic, iia iiib, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM:619789 MONDO:equivalentTo anemia, congenital dyserythropoietic, iia iiib, autosomal recessive semapv:UnspecifiedMatching MONDO:0030714 osteogenesis imperfecta, IIA 22 OMIM:619795 MONDO:equivalentTo osteogenesis imperfecta, iia 22 semapv:UnspecifiedMatching MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 OMIM:619758 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 1 semapv:UnspecifiedMatching MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 OMIM:619759 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 2 semapv:UnspecifiedMatching @@ -911,7 +865,6 @@ MONDO:0030858 immunodeficiency 75 OMIM:619126 MONDO:equivalentTo immunodeficienc MONDO:0030860 neuronopathy, distal hereditary motor, type 5C OMIM:619112 MONDO:equivalentTo neuronopathy, distal hereditary motor, iia 5c semapv:UnspecifiedMatching MONDO:0030890 pontocerebellar hypoplasia, IIA 17 OMIM:619909 MONDO:equivalentTo pontocerebellar hypoplasia, iia 17 semapv:UnspecifiedMatching MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 OMIM:619170 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 36 semapv:UnspecifiedMatching -MONDO:0030914 Clark-Baraitser syndrome OMIM:300602 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis OMIMPS:105500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 OMIM:619166 MONDO:equivalentTo mitochondrial complex 2 deficiency, nuclear iia 2 semapv:UnspecifiedMatching MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 OMIM:619167 MONDO:equivalentTo mitochondrial complex 2 deficiency, nuclear iia 3 semapv:UnspecifiedMatching @@ -919,10 +872,19 @@ MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 OMIM:619224 MON MONDO:0030978 endove syndrome, limb-only type OMIM:619217 MONDO:equivalentTo endove syndrome, limb-only iia semapv:UnspecifiedMatching MONDO:0030979 endove syndrome, limb-brain type OMIM:619218 MONDO:equivalentTo endove syndrome, limb-brain iia semapv:UnspecifiedMatching MONDO:0030982 sulfide quinone oxidoreductase deficiency OMIM:619221 MONDO:equivalentTo sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching +MONDO:0030983 Waardenburg syndrome, IIa 2F OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f semapv:UnspecifiedMatching +MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 OMIM:619950 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 OMIM:619272 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 37 semapv:UnspecifiedMatching +MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 OMIM:619951 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching MONDO:0031008 nephrotic syndrome, type 24 OMIM:619263 MONDO:equivalentTo nephrotic syndrome, iia 24 semapv:UnspecifiedMatching MONDO:0031037 famililal cerebral cavernous malformations OMIMPS:116860 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031045 arthrogryposis, distal, IIa 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 semapv:UnspecifiedMatching +MONDO:0031047 stickler syndrome, IIa 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 semapv:UnspecifiedMatching +MONDO:0031061 nephrotic syndrome, IIa 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 semapv:UnspecifiedMatching +MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:UnspecifiedMatching +MONDO:0031084 amelogenesis imperfecta, IIa 1K OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k semapv:UnspecifiedMatching MONDO:0031115 dyskinesia with orofacial involvement OMIMPS:606703 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031166 macular dystrophy, retinal OMIMPS:136550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031169 odontochondrodysplasia OMIMPS:184260 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031178 monosomy 7 myelodysplasia and leukemia syndrome OMIMPS:252270 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031199 inherited interstitial lung disease OMIMPS:619611 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -930,15 +892,24 @@ MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome OMIMPS:619720 MONDO:equ MONDO:0031213 restrictive dermopathy OMIMPS:275210 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031219 mismatch repair cancer syndrome OMIMPS:276300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031230 mitochondrial complex II deficiency, nuclear type OMIMPS:252011 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031240 familial panic disorder OMIMPS:167870 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031280 Stuve-Wiedemann syndrome OMIMPS:601559 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031323 cardiac valvular defect OMIMPS:212093 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome OMIMPS:213980 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031376 congenital disorder of deglycosylation OMIMPS:615273 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031384 autoinflammatory syndrome, familial, Behcet-like OMIMPS:616744 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031386 cardioacrofacial dysplasia OMIMPS:619142 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome OMIMPS:619758 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031415 Carey-Fineman-Ziter syndrome OMIMPS:254940 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031421 Olmsted syndrome OMIMPS:614594 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031422 familial mucolipidosis OMIMPS:256550 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031432 thyroid hormone metabolism, abnormal OMIMPS:609698 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIMPS:617877 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0031447 macrothrombocytopenia, isolated OMIMPS:613112 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031520 familial severe combined immunodeficiency OMIMPS:601457 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031615 familial bent bone dysplasia syndrome OMIMPS:614592 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0031646 Braddock-Carey syndrome OMIMPS:619980 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0032569 isolated growth hormone deficiency, type 5 OMIM:618160 MONDO:equivalentTo pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow type OMIM:618162 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, krakow iia semapv:UnspecifiedMatching MONDO:0032580 nephrotic syndrome, type 17 OMIM:618176 MONDO:equivalentTo nephrotic syndrome, iia 17 semapv:UnspecifiedMatching @@ -969,7 +940,6 @@ MONDO:0033551 immunodeficiency 72 with autoinflammation OMIM:618982 MONDO:equiva MONDO:0033552 obsolete blood group, lewis system OMIM:618983 MONDO:equivalentTo blood group, lewis system semapv:UnspecifiedMatching MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 OMIM:618998 MONDO:equivalentTo immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus OMIM:619030 MONDO:equivalentTo skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:603513 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0033621 spinal muscular atrophy, infantile, James type OMIM:619042 MONDO:equivalentTo spinal muscular atrophy, infantile, james iia semapv:UnspecifiedMatching MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 OMIM:619046 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 3 semapv:UnspecifiedMatching MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 OMIM:619048 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 4 semapv:UnspecifiedMatching @@ -990,6 +960,8 @@ MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 OMIM:619065 MO MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome OMIM:618218 MONDO:equivalentTo baker-gordon syndrome semapv:UnspecifiedMatching MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type OMIMPS:220110 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers OMIM:618414 MONDO:equivalentTo congenital myopathy 14 semapv:UnspecifiedMatching +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome OMIM:619318 MONDO:equivalentTo oculogastrointestinal neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome OMIM:619338 MONDO:equivalentTo cataracts, spastic paraparesis, and speech delay semapv:UnspecifiedMatching MONDO:0043878 hereditary optic atrophy OMIMPS:165500 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0044202 episodic kinesigenic dyskinesia OMIMPS:128200 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0044203 foveal hypoplasia OMIMPS:136520 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -1026,6 +998,7 @@ MONDO:0044281 obsolete c3hex, ability to smell OMIM:615082 MONDO:equivalentTo c3 MONDO:0044282 obsolete blood group, vel system OMIM:615264 MONDO:equivalentTo blood group, vel system semapv:UnspecifiedMatching MONDO:0044284 obsolete blood group, gerbich system OMIM:616089 MONDO:equivalentTo blood group, gerbich system semapv:UnspecifiedMatching MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold OMIM:617450 MONDO:equivalentTo jansen-de vries syndrome semapv:UnspecifiedMatching +MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement OMIM:616921 MONDO:equivalentTo dyskinesia, limb and orofacial, infantile-onset semapv:UnspecifiedMatching MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome OMIM:617193 MONDO:equivalentTo encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO:0044660 menstrual cycle-dependent periodic fever OMIM:614674 MONDO:equivalentTo periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO:0044723 3-methylglutaconic aciduria type 8 OMIM:617248 MONDO:equivalentTo 3-methylglutaconic aciduria, iia 8 semapv:UnspecifiedMatching @@ -1040,6 +1013,7 @@ MONDO:0060593 obsolete actn3 deficiency OMIM:617749 MONDO:equivalentTo actn3 def MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language OMIM:617804 MONDO:equivalentTo neurodevelopmental disorder with variable motor and language impairment semapv:UnspecifiedMatching MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type OMIM:617974 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, di rocco iia semapv:UnspecifiedMatching MONDO:0060720 congenital disorder of glycosylation with defective fucosylation OMIMPS:618005 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0100043 epidermodysplasia verruciformis, susceptibility to OMIMPS:226400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100062 developmental and epileptic encephalopathy OMIMPS:308350 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100157 Imerslund-Grasbeck syndrome type 2 OMIM:618882 MONDO:equivalentTo imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching MONDO:0100164 permanent neonatal diabetes mellitus OMIMPS:606176 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -1061,18 +1035,29 @@ MONDO:0100242 glioma susceptibility OMIMPS:137800 MONDO:equivalentTo semapv:Uns MONDO:0100244 paroxysmal nocturnal hemoglobinuria OMIMPS:300818 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100246 migraine with or without aura, susceptibility to OMIMPS:157300 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome OMIMPS:614080 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0100255 adenosine kinase deficiency OMIM:611094 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100280 Waldenstrom macroglobulinemia OMIMPS:153600 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100281 macroglobulinemia, Waldenstrom, 1 OMIM:153600 MONDO:equivalentTo macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0100285 extrahepatic biliary atresia OMIM:210500 MONDO:equivalentTo biliary atresia, extrahepatic semapv:UnspecifiedMatching +MONDO:0100300 hereditary capillary infantile hemangioma OMIM:602089 MONDO:equivalentTo hemangioma, capillary infantile semapv:UnspecifiedMatching MONDO:0100326 Glanzmann thrombasthenia OMIMPS:273800 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100327 hypercholanemia, familial OMIMPS:607748 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome OMIMPS:614231 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0100440 Asperger syndrome, susceptibility to OMIMPS:608638 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer OMIM:137215 MONDO:equivalentTo diffuse gastric and lobular breast cancer syndrome semapv:UnspecifiedMatching MONDO:0200001 obsolete chromate resistance OMIM:118840 MONDO:equivalentTo chromate resistance semapv:UnspecifiedMatching +MONDO:0700225 hereditary gallbladder disorder OMIMPS:600803 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0800031 central hypoventilation syndrome, congenital OMIMPS:209880 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0800046 thyroid hormone metabolism, abnormal 1 OMIM:609698 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 1 semapv:UnspecifiedMatching MONDO:0800129 autoinflammatory disease, X-linked OMIM:301081 MONDO:equivalentTo autoinflammatory disease, systemic, X-linked semapv:UnspecifiedMatching MONDO:0800130 autoinflammatory syndrome with immunodeficiency OMIM:619375 MONDO:equivalentTo autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency OMIM:619858 MONDO:equivalentTo autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0800188 malignant hyperthermia, susceptibility to OMIMPS:145600 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J OMIM:620111 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1j semapv:UnspecifiedMatching +MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 OMIM:620135 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 39 semapv:UnspecifiedMatching +MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 OMIM:620137 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 11 semapv:UnspecifiedMatching +MONDO:0859356 congenital disorder of glycosylation, type IIy OMIM:620200 MONDO:equivalentTo congenital disorder of glycosylation, iia iiy semapv:UnspecifiedMatching +MONDO:0859357 congenital disorder of glycosylation, type IIz OMIM:620201 MONDO:equivalentTo congenital disorder of glycosylation, iia iiz semapv:UnspecifiedMatching +MONDO:0859381 cardiomyopathy, dilated, 100 OMIM:620247 MONDO:equivalentTo cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching +MONDO:0859383 ichthyosis hystrix OMIMPS:146590 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0859390 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features OMIMPS:300491 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0859393 Atelis syndrome OMIMPS:620184 MONDO:equivalentTo semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv index 51dcd315..76b43085 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv @@ -6,7 +6,6 @@ MONDO:0007066 adenosine triphosphatase deficiency, anemia due to OMIM:102800 MON MONDO:0007087 alternating hemiplegia of childhood 1 OMIM:104290 MONDO:equivalentTo alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract OMIM:106230 MONDO:equivalentTo aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness OMIM:108760 MONDO:equivalentTo atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching -MONDO:0007175 PR interval, variation 1N OMIM:108980 MONDO:equivalentTo pr interval, variation 1n semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial OMIM:109160 MONDO:equivalentTo azotemia, familial semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right OMIM:113950 MONDO:equivalentTo bundle branch block, familial isolated complete right semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent OMIM:114600 MONDO:equivalentTo canine teeth, absence of upper permanent semapv:UnspecifiedMatching @@ -100,6 +99,7 @@ MONDO:0009765 ocular myopathy with curare sensitivity OMIM:257600 MONDO:equivale MONDO:0009781 Onychotrichodysplasia and neutropenia OMIM:258360 MONDO:equivalentTo onychotrichodysplasia and neutropenia semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis OMIM:258400 MONDO:equivalentTo ophthalmoplegia totalis with ptosis and miosis semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration OMIM:258700 MONDO:equivalentTo opticocochleodentate degeneration semapv:UnspecifiedMatching +MONDO:0009901 Bartsocas-Papas syndrome 1 OMIM:263650 MONDO:equivalentTo bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia OMIM:265950 MONDO:equivalentTo pyloric atresia semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal OMIM:266250 MONDO:equivalentTo radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea OMIM:266350 MONDO:equivalentTo red skin pigment anomaly of new guinea semapv:UnspecifiedMatching @@ -121,6 +121,7 @@ MONDO:0010297 FG syndrome 2 OMIM:300321 MONDO:equivalentTo fg syndrome 2 semapv: MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367 MONDO:equivalentTo thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 OMIM:300406 MONDO:equivalentTo fg syndrome 3 semapv:UnspecifiedMatching MONDO:0010321 autism, susceptibility to, X-linked 1 OMIM:300425 MONDO:equivalentTo autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders OMIM:300491 MONDO:equivalentTo epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 OMIM:300495 MONDO:equivalentTo autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching MONDO:0010342 autism, susceptibility to, X-linked 3 OMIM:300496 MONDO:equivalentTo autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 OMIM:300509 MONDO:equivalentTo dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching @@ -197,7 +198,6 @@ MONDO:0011689 dyslexia, susceptibility to, 6 OMIM:606616 MONDO:equivalentTo dysl MONDO:0011695 melanoma, uveal, susceptibility to, 1 OMIM:606660 MONDO:equivalentTo melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011696 melanoma, uveal, susceptibility to, 2 OMIM:606661 MONDO:equivalentTo melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features OMIM:606688 MONDO:equivalentTo spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching -MONDO:0011704 glaucoma 1, open angle, B OMIM:606689 MONDO:equivalentTo glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods OMIM:606842 MONDO:equivalentTo cardioneuromyopathy with hyaline masses and nemaline rods semapv:UnspecifiedMatching MONDO:0011741 Hirschsprung disease, susceptibility to, 6 OMIM:606874 MONDO:equivalentTo hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 OMIM:606875 MONDO:equivalentTo hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching @@ -260,6 +260,7 @@ MONDO:0012229 myopia 9 OMIM:609258 MONDO:equivalentTo myopia 9 semapv:Unspecifie MONDO:0012230 myopia 10 OMIM:609259 MONDO:equivalentTo myopia 10 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 OMIM:609261 MONDO:equivalentTo stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 OMIM:609271 MONDO:equivalentTo keratoconus 4 semapv:UnspecifiedMatching +MONDO:0012239 congenital myopathy 4B, autosomal recessive OMIM:609284 MONDO:equivalentTo congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 OMIM:609299 MONDO:equivalentTo prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion OMIM:609334 MONDO:equivalentTo chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema OMIM:609352 MONDO:equivalentTo epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching @@ -273,7 +274,6 @@ MONDO:0012300 prostate cancer, hereditary, 6 OMIM:609558 MONDO:equivalentTo pros MONDO:0012302 parietal foramina 3 OMIM:609566 MONDO:equivalentTo parietal foramina 3 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 OMIM:609782 MONDO:equivalentTo aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel OMIM:609817 MONDO:equivalentTo vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching -MONDO:0012357 glaucoma 1, open angle, G OMIM:609887 MONDO:equivalentTo glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 OMIM:609903 MONDO:equivalentTo systemic lupus erythematosus, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 OMIM:609918 MONDO:equivalentTo gallbladder disease 2 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 OMIM:609919 MONDO:equivalentTo gallbladder disease 3 semapv:UnspecifiedMatching @@ -320,9 +320,7 @@ MONDO:0012628 coronary heart disease, susceptibility to, 8 OMIM:611139 MONDO:equ MONDO:0012636 restless legs syndrome, susceptibility to, 6 OMIM:611185 MONDO:equivalentTo restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012641 restless legs syndrome, susceptibility to, 5 OMIM:611242 MONDO:equivalentTo restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N OMIM:611274 MONDO:equivalentTo glaucoma 1, open angle, n semapv:UnspecifiedMatching -MONDO:0012646 glaucoma 1, open angle, H OMIM:611276 MONDO:equivalentTo glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant OMIM:611308 MONDO:equivalentTo persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching -MONDO:0012663 Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0012666 asthma-related traits, susceptibility to, 6 OMIM:611403 MONDO:equivalentTo asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 OMIM:611493 MONDO:equivalentTo atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 OMIM:611494 MONDO:equivalentTo atrial fibrillation, familial, 5 semapv:UnspecifiedMatching @@ -407,6 +405,7 @@ MONDO:0013187 factor XIII, A subunit, deficiency of OMIM:613225 MONDO:equivalent MONDO:0013190 factor XIII, b subunit, deficiency of OMIM:613235 MONDO:equivalentTo factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 OMIM:613238 MONDO:equivalentTo spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 OMIM:613239 MONDO:equivalentTo thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching +MONDO:0013196 Lynch syndrome 8 OMIM:613244 MONDO:equivalentTo lynch syndrome 8 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to OMIM:613290 MONDO:equivalentTo hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 OMIM:613312 MONDO:equivalentTo hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 OMIM:613340 MONDO:equivalentTo epilepsy, hot water, 2 semapv:UnspecifiedMatching @@ -464,6 +463,8 @@ MONDO:0013683 vesicoureteral reflux 5 OMIM:614318 MONDO:equivalentTo vesicourete MONDO:0013684 vesicoureteral reflux 6 OMIM:614319 MONDO:equivalentTo vesicoureteral reflux 6 semapv:UnspecifiedMatching MONDO:0013685 pancreatic cancer, susceptibility to, 4 OMIM:614320 MONDO:equivalentTo pancreatic cancer, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 OMIM:614328 MONDO:equivalentTo inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching +MONDO:0013699 Lynch syndrome 4 OMIM:614337 MONDO:equivalentTo lynch syndrome 4 semapv:UnspecifiedMatching +MONDO:0013710 Lynch syndrome 5 OMIM:614350 MONDO:equivalentTo lynch syndrome 5 semapv:UnspecifiedMatching MONDO:0013716 aortic aneurysm, familial abdominal, 4 OMIM:614375 MONDO:equivalentTo aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching MONDO:0013724 bacteremia, susceptibility to, 2 OMIM:614383 MONDO:equivalentTo bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 OMIM:614390 MONDO:equivalentTo pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching @@ -701,10 +702,10 @@ MONDO:0024532 otofaciocervical syndrome 1 OMIM:166780 MONDO:equivalentTo otofaci MONDO:0024570 hyperparathyroidism 4 OMIM:617343 MONDO:equivalentTo hyperparathyroidism 4 semapv:UnspecifiedMatching MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM:301074 MONDO:equivalentTo autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked OMIM:301075 MONDO:equivalentTo myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching -MONDO:0024773 spermatogenic failure, x-linked, 4 OMIM:301077 MONDO:equivalentTo spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching +MONDO:0024773 spermatogenic failure, X-linked, 4 OMIM:301077 MONDO:equivalentTo spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked OMIM:301078 MONDO:equivalentTo immunodeficiency 98 with autoinflammation, X-linked semapv:UnspecifiedMatching MONDO:0024781 immunodeficiency 102 OMIM:301082 MONDO:equivalentTo immunodeficiency 102 semapv:UnspecifiedMatching -MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, x-linked OMIM:301056 MONDO:equivalentTo multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching +MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked OMIM:301056 MONDO:equivalentTo multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching MONDO:0025356 azoospermia, obstructive, with nephrolithiasis OMIM:301060 MONDO:equivalentTo azoospermia, obstructive, with nephrolithiasis semapv:UnspecifiedMatching MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 OMIM:500013 MONDO:equivalentTo charcot-marie-tooth disease, axonal, mitochondrial form, 1 semapv:UnspecifiedMatching MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 OMIM:619278 MONDO:equivalentTo microcephaly, epilepsy, and diabetes syndrome 2 semapv:UnspecifiedMatching @@ -803,7 +804,6 @@ MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 OMIM:61952 MONDO:0030436 anemia, sideroblastic, 5 OMIM:619523 MONDO:equivalentTo anemia, sideroblastic, 5 semapv:UnspecifiedMatching MONDO:0030440 cone-rod dystrophy 22 OMIM:619531 MONDO:equivalentTo cone-rod dystrophy 22 semapv:UnspecifiedMatching MONDO:0030448 immunodeficiency 86 OMIM:619549 MONDO:equivalentTo immunodeficiency 86 semapv:UnspecifiedMatching -MONDO:0030449 deafness, autosomal recessive 118, with cochlear aplasia OMIM:619553 MONDO:equivalentTo deafness, autosomal recessive 118, with cochlear aplasia semapv:UnspecifiedMatching MONDO:0030453 developmental and epileptic encephalopathy 97 OMIM:619561 MONDO:equivalentTo developmental and epileptic encephalopathy 97 semapv:UnspecifiedMatching MONDO:0030454 Joubert syndrome 39 OMIM:619562 MONDO:equivalentTo joubert syndrome 39 semapv:UnspecifiedMatching MONDO:0030455 dystonia 31 OMIM:619565 MONDO:equivalentTo dystonia 31 semapv:UnspecifiedMatching @@ -867,7 +867,6 @@ MONDO:0030697 myopia 28, autosomal recessive OMIM:619781 MONDO:equivalentTo myop MONDO:0030716 spermatogenic failure 66 OMIM:619799 MONDO:equivalentTo spermatogenic failure 66 semapv:UnspecifiedMatching MONDO:0030717 immunodeficiency 97 with autoinflammation OMIM:619802 MONDO:equivalentTo immunodeficiency 97 with autoinflammation semapv:UnspecifiedMatching MONDO:0030718 spermatogenic failure 67 OMIM:619803 MONDO:equivalentTo spermatogenic failure 67 semapv:UnspecifiedMatching -MONDO:0030719 deafness, autosomal dominant 82 OMIM:619804 MONDO:equivalentTo deafness, autosomal dominant 82 semapv:UnspecifiedMatching MONDO:0030721 spermatogenic failure 68 OMIM:619805 MONDO:equivalentTo spermatogenic failure 68 semapv:UnspecifiedMatching MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant OMIM:619813 MONDO:equivalentTo neutropenia, severe congenital, 9, autosomal dominant semapv:UnspecifiedMatching MONDO:0030727 developmental and epileptic encephalopathy 101 OMIM:619814 MONDO:equivalentTo developmental and epileptic encephalopathy 101 semapv:UnspecifiedMatching @@ -947,14 +946,23 @@ MONDO:0030936 epilepsy, progressive myoclonic, 12 OMIM:619191 MONDO:equivalentTo MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 OMIM:619209 MONDO:equivalentTo erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities OMIM:619173 MONDO:equivalentTo neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM:619184 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching +MONDO:0030957 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching +MONDO:0030958 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO:0030961 Olmsted syndrome 2 OMIM:619208 MONDO:equivalentTo olmsted syndrome 2 semapv:UnspecifiedMatching MONDO:0030963 Li-Campeau syndrome OMIM:619189 MONDO:equivalentTo li-campeau syndrome semapv:UnspecifiedMatching +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis OMIM:619194 MONDO:equivalentTo neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM:619196 MONDO:equivalentTo deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay OMIM:619220 MONDO:equivalentTo immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching +MONDO:0030972 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 semapv:UnspecifiedMatching MONDO:0030973 immunodeficiency 77 OMIM:619223 MONDO:equivalentTo immunodeficiency 77 semapv:UnspecifiedMatching +MONDO:0030975 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 semapv:UnspecifiedMatching MONDO:0030976 oculomotor-abducens synkinesis OMIM:619215 MONDO:equivalentTo oculomotor-abducens synkinesis semapv:UnspecifiedMatching MONDO:0030977 neuropathy, hereditary motor, with myopathic features OMIM:619216 MONDO:equivalentTo neuropathy, hereditary motor, with myopathic features semapv:UnspecifiedMatching +MONDO:0030984 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 semapv:UnspecifiedMatching MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa OMIM:619226 MONDO:equivalentTo blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects OMIM:619227 MONDO:equivalentTo vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies OMIM:619228 MONDO:equivalentTo developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching @@ -971,6 +979,22 @@ MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy OMIM:61 MONDO:0031009 Glanzmann thrombasthenia 2 OMIM:619267 MONDO:equivalentTo glanzmann thrombasthenia 2 semapv:UnspecifiedMatching MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes OMIM:619269 MONDO:equivalentTo odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures OMIM:619264 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching +MONDO:0031019 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching +MONDO:0031021 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching +MONDO:0031044 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching +MONDO:0031052 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching +MONDO:0031055 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching +MONDO:0031057 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic semapv:UnspecifiedMatching +MONDO:0031060 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0031062 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 semapv:UnspecifiedMatching +MONDO:0031071 Diamond-Blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 semapv:UnspecifiedMatching +MONDO:0031077 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 semapv:UnspecifiedMatching +MONDO:0031083 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 semapv:UnspecifiedMatching MONDO:0031446 hypercholanemia, familial 1 OMIM:607748 MONDO:equivalentTo hypercholanemia, familial 1 semapv:UnspecifiedMatching MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 OMIM:614231 MONDO:equivalentTo microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching MONDO:0032591 hyperparathyroidism, transient neonatal OMIM:618188 MONDO:equivalentTo hyperparathyroidism, transient neonatal semapv:UnspecifiedMatching @@ -1073,10 +1097,14 @@ MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia OMIM:618850 MONDO:eq MONDO:0100092 myoclonus, familial, 2 OMIM:618364 MONDO:equivalentTo myoclonus, familial, 2 semapv:UnspecifiedMatching MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome OMIM:619428 MONDO:equivalentTo focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO:0100119 Knobloch syndrome 2 OMIM:618458 MONDO:equivalentTo knobloch syndrome 2 semapv:UnspecifiedMatching +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM:620062 MONDO:equivalentTo developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:UnspecifiedMatching MONDO:0100218 arthrogryposis multiplex congenita 5 OMIM:618947 MONDO:equivalentTo arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant OMIM:618985 MONDO:equivalentTo growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 OMIM:619013 MONDO:equivalentTo rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching MONDO:0100221 IFAP syndrome 2 OMIM:619016 MONDO:equivalentTo ifap syndrome 2 semapv:UnspecifiedMatching +MONDO:0100292 Carey-Fineman-Ziter syndrome 2 OMIM:619941 MONDO:equivalentTo carey-fineman-ziter syndrome 2 semapv:UnspecifiedMatching +MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial OMIM:502500 MONDO:equivalentTo alzheimer disease, susceptibility to, mitochondrial semapv:UnspecifiedMatching MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 OMIM:617877 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:UnspecifiedMatching MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities OMIM:619091 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:UnspecifiedMatching MONDO:0100457 achalasia, familial esophageal OMIM:200400 MONDO:equivalentTo achalasia, familial esophageal semapv:UnspecifiedMatching @@ -1086,4 +1114,48 @@ MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant OMIM:606 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 OMIM:616744 MONDO:equivalentTo autoinflammatory syndrome, familial, behcet-like 1 semapv:UnspecifiedMatching MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant OMIM:613112 MONDO:equivalentTo macrothrombocytopenia, isolated, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM:619752 MONDO:equivalentTo hyper-ige recurrent infection syndrome 4a, autosomal dominant semapv:UnspecifiedMatching +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 OMIM:254940 MONDO:equivalentTo carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching +MONDO:0859046 rhabdomyosarcoma, embryonal, 2 OMIM:180295 MONDO:equivalentTo rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching +MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:301066 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching +MONDO:0859086 intellectual developmental disorder, X-linked 110 OMIM:301095 MONDO:equivalentTo intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching +MONDO:0859147 Marbach-Rustad progeroid syndrome OMIM:619322 MONDO:equivalentTo marbach-rustad progeroid syndrome semapv:UnspecifiedMatching +MONDO:0859154 Bartsocas-Papas syndrome 2 OMIM:619339 MONDO:equivalentTo bartsocas-papas syndrome 2 semapv:UnspecifiedMatching +MONDO:0859228 combined oxidative phosphorylation deficiency 55 OMIM:619743 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching +MONDO:0859242 leukodystrophy, hypomyelinating, 24 OMIM:619851 MONDO:equivalentTo leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching +MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 OMIM:619862 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching +MONDO:0859308 retinitis pigmentosa 95 OMIM:620102 MONDO:equivalentTo retinitis pigmentosa 95 semapv:UnspecifiedMatching +MONDO:0859309 spastic paraplegia 88, autosomal dominant OMIM:620106 MONDO:equivalentTo spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859314 developmental and epileptic encephalopathy 108 OMIM:620115 MONDO:equivalentTo developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching +MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 OMIM:620133 MONDO:equivalentTo dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching +MONDO:0859323 combined oxidative phosphorylation deficiency 56 OMIM:620139 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching +MONDO:0859325 developmental and epileptic encephalopathy 109 OMIM:620145 MONDO:equivalentTo developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching +MONDO:0859327 developmental and epileptic encephalopathy 110 OMIM:620149 MONDO:equivalentTo developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:620152 MONDO:equivalentTo hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 OMIM:620153 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching +MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 OMIM:620156 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching +MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 OMIM:620157 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching +MONDO:0859334 spinocerebellar ataxia 50 OMIM:620158 MONDO:equivalentTo spinocerebellar ataxia 50 semapv:UnspecifiedMatching +MONDO:0859337 combined oxidative phosphorylation deficiency 57 OMIM:620167 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 semapv:UnspecifiedMatching +MONDO:0859338 spermatogenic failure 78 OMIM:620170 MONDO:equivalentTo spermatogenic failure 78 semapv:UnspecifiedMatching +MONDO:0859339 tooth agenesis, selective, 10 OMIM:620173 MONDO:equivalentTo tooth agenesis, selective, 10 semapv:UnspecifiedMatching +MONDO:0859340 spinocerebellar ataxia 27B, late-onset OMIM:620174 MONDO:equivalentTo spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching +MONDO:0859341 hypotrichosis 15 OMIM:620177 MONDO:equivalentTo hypotrichosis 15 semapv:UnspecifiedMatching +MONDO:0859342 microcephaly 30, primary, autosomal recessive OMIM:620183 MONDO:equivalentTo microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:620189 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching +MONDO:0859352 spermatogenic failure 79 OMIM:620196 MONDO:equivalentTo spermatogenic failure 79 semapv:UnspecifiedMatching +MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620197 MONDO:equivalentTo ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching +MONDO:0859354 thyroid hormone metabolism, abnormal, 3 OMIM:620198 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching +MONDO:0859358 cardiomyopathy, dilated, 2H OMIM:620203 MONDO:equivalentTo cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching +MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 OMIM:620208 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching +MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620211 MONDO:equivalentTo hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia OMIM:620221 MONDO:equivalentTo spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching +MONDO:0859364 spermatogenic failure 80 OMIM:620222 MONDO:equivalentTo spermatogenic failure 80 semapv:UnspecifiedMatching +MONDO:0859367 retinitis pigmentosa 96 OMIM:620228 MONDO:equivalentTo retinitis pigmentosa 96 semapv:UnspecifiedMatching +MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM:620236 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching +MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 OMIM:620237 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching +MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to OMIM:620241 MONDO:equivalentTo hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0859378 leukodystrophy, hypomyelinating, 25 OMIM:620243 MONDO:equivalentTo leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching +MONDO:0859379 lymphatic malformation 13 OMIM:620244 MONDO:equivalentTo lymphatic malformation 13 semapv:UnspecifiedMatching +MONDO:0859380 episodic kinesigenic dyskinesia 3 OMIM:620245 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching +MONDO:0859382 cataract 50 with or without glaucoma OMIM:620253 MONDO:equivalentTo cataract 50 with or without glaucoma semapv:UnspecifiedMatching MONDO:8000013 portal hypertension, noncirrhotic, 1 OMIM:617068 MONDO:equivalentTo portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 00ef604c..79b66f10 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -17,6 +17,7 @@ MONDO:0015076 obsolete rare parathyroid tumor Orphanet:100090 MONDO:equivalentTo MONDO:0015081 obsolete neuroendocrine tumor with other location Orphanet:100101 MONDO:equivalentTo Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO:0015106 obsolete rare urogenital disease Orphanet:101433 MONDO:equivalentTo Rare urogenital disease semapv:UnspecifiedMatching MONDO:0015107 obsolete rare genetic eye disease Orphanet:101435 MONDO:equivalentTo Rare genetic eye disease semapv:UnspecifiedMatching +MONDO:0015110 obsolete genetic cardiac rhythm disease Orphanet:101934 MONDO:equivalentTo Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO:0015111 gastroesophageal disease Orphanet:101936 MONDO:equivalentTo Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO:0015112 obsolete rare pancreatic disease Orphanet:101937 MONDO:equivalentTo Rare pancreatic disease semapv:UnspecifiedMatching MONDO:0015114 obsolete rare parenchymal liver disease Orphanet:101939 MONDO:equivalentTo Rare parenchymal liver disease semapv:UnspecifiedMatching @@ -32,6 +33,8 @@ MONDO:0015157 human herpesvirus 8-related tumor Orphanet:102024 MONDO:equivalent MONDO:0015162 obsolete rare syndromic intellectual disability Orphanet:102369 MONDO:equivalentTo Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect Orphanet:104006 MONDO:equivalentTo Congenital intestinal disease due to an enzymatic defect semapv:UnspecifiedMatching MONDO:0015188 obsolete metabolic disorder with intestinal involvement Orphanet:104013 MONDO:equivalentTo Metabolic disease with intestinal involvement semapv:UnspecifiedMatching +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation Orphanet:108977 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation Orphanet:108979 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0015223 obsolete rare anemia Orphanet:108997 MONDO:equivalentTo Rare anemia semapv:UnspecifiedMatching MONDO:0015224 obsolete rare intoxication Orphanet:108999 MONDO:equivalentTo Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO:0015245 obsolete rare intestinal disease Orphanet:117569 MONDO:equivalentTo Rare intestinal disease semapv:UnspecifiedMatching @@ -41,6 +44,7 @@ MONDO:0015328 obsolete rare bone development disorder Orphanet:139012 MONDO:equi MONDO:0015329 obsolete malformation syndrome with short stature Orphanet:139021 MONDO:equivalentTo Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement Orphanet:139027 MONDO:equivalentTo Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO:0015332 obsolete rare developmental defect with connective tissue involvement Orphanet:139030 MONDO:equivalentTo Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching +MONDO:0015335 Mendelian syndromes with cleft lip/palate Orphanet:139039 MONDO:equivalentTo Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component Orphanet:139042 MONDO:equivalentTo Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO:0015356 hereditary neoplastic syndrome Orphanet:140162 MONDO:equivalentTo Inherited cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO:0015475 obsolete rare head and neck malformation Orphanet:155832 MONDO:equivalentTo Rare head and neck malformation semapv:UnspecifiedMatching @@ -259,8 +263,8 @@ MONDO:0017657 obsolete rare paroxysmal movement disorder Orphanet:306768 MONDO:e MONDO:0017660 obsolete rare genetic parkinsonian disorder Orphanet:307052 MONDO:equivalentTo Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease Orphanet:307055 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease Orphanet:307058 MONDO:equivalentTo Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching -MONDO:0017663 obsolete inherited tremor disorder Orphanet:307064 MONDO:equivalentTo Rare genetic myoclonus semapv:UnspecifiedMatching MONDO:0017663 obsolete inherited tremor disorder Orphanet:307061 MONDO:equivalentTo Rare genetic tremor disorder semapv:UnspecifiedMatching +MONDO:0017663 obsolete inherited tremor disorder Orphanet:307064 MONDO:equivalentTo Rare genetic myoclonus semapv:UnspecifiedMatching MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature Orphanet:307067 MONDO:equivalentTo Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature Orphanet:308023 MONDO:equivalentTo Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308031 MONDO:equivalentTo Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching @@ -280,7 +284,6 @@ MONDO:0017976 obsolete disorder of sex development of gynecological interest Orp MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest Orphanet:325632 MONDO:equivalentTo 46,XY disorder of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest Orphanet:325638 MONDO:equivalentTo Syndrome with disorder of sex development of gynecological interest semapv:UnspecifiedMatching MONDO:0017980 syngnathia multiple anomalies Orphanet:3262 MONDO:equivalentTo Dobrow syndrome semapv:UnspecifiedMatching -MONDO:0018003 limbic encephalitis with DPP6 antibodies Orphanet:329341 MONDO:equivalentTo OBSOLETE: Limbic encephalitis with DPP6 antibodies semapv:UnspecifiedMatching MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity Orphanet:331193 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO:0018035 obsolete syndrome with combined immunodeficiency Orphanet:331217 MONDO:equivalentTo Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Orphanet:331232 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching @@ -410,6 +413,7 @@ MONDO:0020014 obsolete rare disease with odontological manifestation Orphanet:98 MONDO:0020015 obsolete rare circulatory system disease Orphanet:98028 MONDO:equivalentTo Rare circulatory system disease semapv:UnspecifiedMatching MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement Orphanet:98033 MONDO:equivalentTo Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO:0020017 obsolete rare otorhinolaryngologic disease Orphanet:98036 MONDO:equivalentTo Rare otorhinolaryngologic disease semapv:UnspecifiedMatching +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation Orphanet:98043 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0020024 obsolete rare infertility Orphanet:98047 MONDO:equivalentTo Rare infertility semapv:UnspecifiedMatching MONDO:0020026 obsolete rare female infertility Orphanet:98049 MONDO:equivalentTo Rare female infertility semapv:UnspecifiedMatching MONDO:0020027 obsolete rare allergic disease Orphanet:98050 MONDO:equivalentTo Rare allergic disease semapv:UnspecifiedMatching @@ -439,7 +443,6 @@ MONDO:0020060 obsolete gonosome structural anomaly Orphanet:98157 MONDO:equivale MONDO:0020061 obsolete chromosome Y structural anomaly Orphanet:98158 MONDO:equivalentTo Chromosome Y structural anomaly semapv:UnspecifiedMatching MONDO:0020062 obsolete chromosome X structural anomaly Orphanet:98159 MONDO:equivalentTo Chromosome X structural anomaly semapv:UnspecifiedMatching MONDO:0020063 obsolete malformation syndrome with hamartosis Orphanet:98196 MONDO:equivalentTo Malformation syndrome with hamartosis semapv:UnspecifiedMatching -MONDO:0020068 postinfectious encephalitis Orphanet:98253 MONDO:equivalentTo OBSOLETE: Postinfectious encephalitis semapv:UnspecifiedMatching MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly Orphanet:98277 MONDO:equivalentTo Acute myeloid leukemia with recurrent genetic anomaly semapv:UnspecifiedMatching MONDO:0020090 obsolete male infertility due to gonadal dysgenesis Orphanet:98313 MONDO:equivalentTo Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0020100 obsolete rare hemolytic anemia Orphanet:98363 MONDO:equivalentTo Rare hemolytic anemia semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv index d5104cdf..6fecd21f 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv @@ -6,7 +6,6 @@ MONDO:0008672 Watson syndrome Orphanet:3444 MONDO:equivalentTo Watson syndrome s MONDO:0015071 middle ear neuroendocrine tumor Orphanet:100084 MONDO:equivalentTo Middle ear neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0015074 thyroid tumor Orphanet:100087 MONDO:equivalentTo Thyroid tumor semapv:UnspecifiedMatching MONDO:0015084 FRAXF syndrome Orphanet:100974 MONDO:equivalentTo FRAXF syndrome semapv:UnspecifiedMatching -MONDO:0015110 genetic cardiac rhythm disease Orphanet:101934 MONDO:equivalentTo Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO:0015126 polyendocrinopathy Orphanet:101956 MONDO:equivalentTo Polyendocrinopathy semapv:UnspecifiedMatching MONDO:0015130 acquired chronic primary adrenal insufficiency Orphanet:101963 MONDO:equivalentTo Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO:0015133 quantitative and/or qualitative congenital phagocyte defect Orphanet:101985 MONDO:equivalentTo Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching @@ -22,8 +21,6 @@ MONDO:0015208 syndromic esophageal malformation Orphanet:108961 MONDO:equivalent MONDO:0015209 non-syndromic gastroduodenal malformation Orphanet:108963 MONDO:equivalentTo Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO:0015210 syndromic gastroduodenal malformation Orphanet:108965 MONDO:equivalentTo Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO:0015214 syndromic visceral malformation Orphanet:108973 MONDO:equivalentTo Syndromic visceral malformation semapv:UnspecifiedMatching -MONDO:0015215 non-syndromic diaphragmatic or abdominal wall malformation Orphanet:108977 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching -MONDO:0015216 syndromic diaphragmatic or abdominal wall malformation Orphanet:108979 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0015219 non-syndromic central nervous system malformation Orphanet:108989 MONDO:equivalentTo Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO:0015221 non-syndromic respiratory or mediastinal malformation Orphanet:108993 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0015222 syndromic respiratory or mediastinal malformation Orphanet:108995 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching @@ -37,7 +34,6 @@ MONDO:0015327 developmental anomaly of metabolic origin Orphanet:139009 MONDO:eq MONDO:0015330 overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO:0015333 progeroid syndrome Orphanet:139033 MONDO:equivalentTo Progeroid syndrome semapv:UnspecifiedMatching MONDO:0015334 branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching -MONDO:0015335 orofacial clefting syndrome Orphanet:139039 MONDO:equivalentTo Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO:0015338 syndromic craniosynostosis Orphanet:139393 MONDO:equivalentTo Syndromic craniosynostosis semapv:UnspecifiedMatching MONDO:0015341 congenital panfollicular nevus Orphanet:139414 MONDO:equivalentTo Congenital panfollicular nevus semapv:UnspecifiedMatching MONDO:0015368 neuro-ophthalmological disease Orphanet:140653 MONDO:equivalentTo Neuro-ophthalmological disease semapv:UnspecifiedMatching @@ -546,7 +542,6 @@ MONDO:0020001 respiratory or thoracic malformation Orphanet:97957 MONDO:equivale MONDO:0020018 cranial malformation Orphanet:98038 MONDO:equivalentTo Cranial malformation semapv:UnspecifiedMatching MONDO:0020019 digestive tract malformation Orphanet:98039 MONDO:equivalentTo Digestive tract malformation semapv:UnspecifiedMatching MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98041 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching -MONDO:0020021 diaphragmatic or abdominal wall malformation Orphanet:98043 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO:0020022 central nervous system malformation Orphanet:98044 MONDO:equivalentTo Central nervous system malformation semapv:UnspecifiedMatching MONDO:0020023 respiratory or mediastinal malformation Orphanet:98045 MONDO:equivalentTo Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO:0020039 46,XX disorder of sex development induced by androgens excess Orphanet:98078 MONDO:equivalentTo 46,XX disorder of sex development induced by androgens excess semapv:UnspecifiedMatching @@ -686,11 +681,9 @@ MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, p MONDO:0035821 isolated female hypospadias Orphanet:603515 MONDO:equivalentTo Isolated female hypospadias semapv:UnspecifiedMatching MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome Orphanet:603689 MONDO:equivalentTo KLHL7-related Bohring-Opitz-like syndrome semapv:UnspecifiedMatching MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome Orphanet:603694 MONDO:equivalentTo KLHL7-related cold-induced sweating-like syndrome semapv:UnspecifiedMatching -MONDO:0035826 symptomatic form of x-linked centronuclear myopathy in female carriers Orphanet:604680 MONDO:equivalentTo Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:UnspecifiedMatching +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers Orphanet:604680 MONDO:equivalentTo Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:UnspecifiedMatching MONDO:0035882 chronic intervillositis of unknown etiology Orphanet:615970 MONDO:equivalentTo Chronic intervillositis of unknown etiology semapv:UnspecifiedMatching MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome Orphanet:597749 MONDO:equivalentTo KAT6B-related multiple congenital anomalies syndrome semapv:UnspecifiedMatching -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome Orphanet:611201 MONDO:equivalentTo Oculogastrointestinal-neurodevelopmental syndrome semapv:UnspecifiedMatching -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome Orphanet:615938 MONDO:equivalentTo Spastic paraparesis-cataracts-speech delay syndrome semapv:UnspecifiedMatching MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation Orphanet:99710 MONDO:equivalentTo Punctate acrokeratoderma freckle-like pigmentation semapv:UnspecifiedMatching MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection Orphanet:90066 MONDO:equivalentTo Pneumonia caused by Pseudomonas aeruginosa infection semapv:UnspecifiedMatching MONDO:0038268 autoimmune neurological channelopathy Orphanet:98750 MONDO:equivalentTo Autoimmune neurological channelopathy semapv:UnspecifiedMatching @@ -727,3 +720,46 @@ MONDO:0800092 genetic inflammatory or rheumatoid-like osteoarthropathy Orphanet: MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations Orphanet:498451 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO:0800095 syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching +MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations semapv:UnspecifiedMatching +MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia semapv:UnspecifiedMatching +MONDO:0850010 congenital optic disc excavation Orphanet:519333 MONDO:equivalentTo Congenital optic disc excavation semapv:UnspecifiedMatching +MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence semapv:UnspecifiedMatching +MONDO:0850015 selective intrauterine growth restriction Orphanet:617301 MONDO:equivalentTo Selective intrauterine growth restriction semapv:UnspecifiedMatching +MONDO:0850030 complete hemimelia Orphanet:498491 MONDO:equivalentTo Complete hemimelia semapv:UnspecifiedMatching +MONDO:0850049 painful legs and moving toes syndrome Orphanet:617440 MONDO:equivalentTo Painful legs and moving toes syndrome semapv:UnspecifiedMatching +MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome Orphanet:617449 MONDO:equivalentTo Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:UnspecifiedMatching +MONDO:0850053 F12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0850064 inherited hematologic cancer-predisposing syndrome Orphanet:619340 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome semapv:UnspecifiedMatching +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Orphanet:619363 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:UnspecifiedMatching +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:UnspecifiedMatching +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:UnspecifiedMatching +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:UnspecifiedMatching +MONDO:0850070 CADINS disease Orphanet:619972 MONDO:equivalentTo CADINS disease semapv:UnspecifiedMatching +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:UnspecifiedMatching +MONDO:0850072 non-syndromic unisutural craniosynostosis Orphanet:620096 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis semapv:UnspecifiedMatching +MONDO:0850073 non-syndromic unicoronal craniosynostosis Orphanet:620102 MONDO:equivalentTo Non-syndromic unicoronal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850074 non-syndromic unilambdoid craniosynostosis Orphanet:620113 MONDO:equivalentTo Non-syndromic unilambdoid craniosynostosis semapv:UnspecifiedMatching +MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis Orphanet:620139 MONDO:equivalentTo Non-syndromic unifrontosphenoidal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850076 non-syndromic unisquamosal craniosynostosis Orphanet:620146 MONDO:equivalentTo Non-syndromic unisquamosal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850077 non-syndromic multisutural craniosynostosis Orphanet:620152 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis semapv:UnspecifiedMatching +MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis Orphanet:620158 MONDO:equivalentTo Non-syndromic non-specific multisutural craniosynostosis semapv:UnspecifiedMatching +MONDO:0850079 non-syndromic bilambdoid craniosynostosis Orphanet:620178 MONDO:equivalentTo Non-syndromic bilambdoid craniosynostosis semapv:UnspecifiedMatching +MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis Orphanet:620186 MONDO:equivalentTo Non-syndromic unicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis Orphanet:620192 MONDO:equivalentTo Non-syndromic metopic and sagittal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis Orphanet:620198 MONDO:equivalentTo Non-syndromic bicoronal and metopic craniosynostosis semapv:UnspecifiedMatching +MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis Orphanet:620205 MONDO:equivalentTo Non-syndromic bicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching +MONDO:0850084 non-syndromic pansynostosis Orphanet:620212 MONDO:equivalentTo Non-syndromic pansynostosis semapv:UnspecifiedMatching +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:UnspecifiedMatching +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability semapv:UnspecifiedMatching +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:UnspecifiedMatching +MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia Orphanet:622934 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0850097 autoimmune limbic encephalitis Orphanet:623615 MONDO:equivalentTo Autoimmune limbic encephalitis semapv:UnspecifiedMatching +MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia Orphanet:623695 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies Orphanet:624166 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:UnspecifiedMatching +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies Orphanet:624178 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:UnspecifiedMatching +MONDO:0850104 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis semapv:UnspecifiedMatching +MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies Orphanet:624199 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:UnspecifiedMatching +MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies Orphanet:624216 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:UnspecifiedMatching +MONDO:0850107 postinfectious cerebellitis Orphanet:624244 MONDO:equivalentTo Postinfectious cerebellitis semapv:UnspecifiedMatching +MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies Orphanet:624259 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv index 20bd1e86..c56bf28a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv @@ -1,13 +1,5 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0004979 asthma skos:broadMatch DOID:0080821 exercise-induced bronchoconstriction semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym exercise-induced asthma LEXMATCH -MONDO:0007600 primary Fanconi syndrome skos:broadMatch DOID:0080757 Fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label fanconi renotubular syndrome type 1 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:broadMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label tukel syndrome LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:broadMatch DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:broadMatch DOID:0080729 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label brittle cornea syndrome type 2 LEXMATCH MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym kostmann syndrome LEXMATCH MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder LEXMATCH MONDO:0016643 frontonasal dysplasia skos:broadMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:broadMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome LEXMATCH -MONDO:0100452 RPE65-related dominant retinopathy skos:broadMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH -MONDO:0800101 NMNAT1-related retinopathy skos:broadMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis LEXMATCH -MONDO:0800101 NMNAT1-related retinopathy skos:broadMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv index 419be944..afea273a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_ncit.tsv @@ -22,9 +22,9 @@ MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:broadMatch N MONDO:0009349 holoprosencephaly 1 skos:broadMatch NCIT:C124522 Cyclopia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label cyclopia LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:broadMatch NCIT:C34663 High Frequency Hearing Loss semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label high frequency hearing loss LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:broadMatch NCIT:C26973 Sensory Hearing Loss semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label sensory hearing loss LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:broadMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label melanoma-pancreatic cancer syndrome LEXMATCH MONDO:0018479 congenital adrenal hyperplasia skos:broadMatch NCIT:C35408 Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label adrenal hyperplasia LEXMATCH MONDO:0018740 drug-induced methemoglobinemia skos:broadMatch NCIT:C98805 Acquired Methemoglobinemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label acquired methemoglobinemia LEXMATCH MONDO:0018944 gestational trophoblastic neoplasm skos:broadMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label gestational trophoblastic disorder LEXMATCH MONDO:0019015 omphalocele skos:broadMatch NCIT:C185902 Eventration semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label eventration LEXMATCH +MONDO:0100042 cardiac conduction defect skos:broadMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label cardiac conduction disorder LEXMATCH MONDO:0700079 hormone receptor-positive breast cancer skos:broadMatch NCIT:C157056 Hormone Receptor-Positive Breast Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 33125983..e29fec8a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -1,76 +1,43 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000023 infantile liver failure skos:closeMatch DOID:0080716 infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:615438 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch DOID:0080918 polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d065706 LEXMATCH -MONDO:0000088 precocious puberty skos:closeMatch DOID:0112308 central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:257300 LEXMATCH MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:closeMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613155 LEXMATCH MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH -MONDO:0001725 balanitis xerotica obliterans skos:closeMatch DOID:8738 leukoplakia of penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052798 LEXMATCH MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH -MONDO:0003249 pineal gland cancer skos:closeMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pinealoma LEXMATCH -MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:closeMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8315/3 LEXMATCH MONDO:0003424 oncocytic adenoma skos:closeMatch DOID:0081306 spindle cell oncocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8290/0 LEXMATCH -MONDO:0004612 malignant histiocytosis skos:closeMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 LEXMATCH -MONDO:0004631 tongue cancer skos:closeMatch DOID:0080641 tongue carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma LEXMATCH MONDO:0004784 allergic asthma skos:closeMatch DOID:0080811 extrinsic asthma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic asthma LEXMATCH MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 LEXMATCH -MONDO:0005013 dedifferentiated chondrosarcoma skos:closeMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9243/3 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch DOID:0080906 CNS neuroblastoma with FOXR2 activation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9500/3 LEXMATCH MONDO:0005072 neuroblastoma skos:closeMatch DOID:0081315 central nervous system tumor with BCOR internal tandem duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9500/3 LEXMATCH -MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:closeMatch DOID:0080917 sporatic amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref efo:0001357 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch DOID:0081085 acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9872/3 LEXMATCH +MONDO:0005072 neuroblastoma skos:closeMatch DOID:0080906 CNS neuroblastoma with FOXR2 activation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9500/3 LEXMATCH MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9873/3 LEXMATCH -MONDO:0005258 autism spectrum disorder skos:closeMatch DOID:0060042 atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atypical autism LEXMATCH MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch DOID:0081305 polymorphous low grade neuroepithelial tumour of the young semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9413/0 LEXMATCH -MONDO:0006279 lung sarcomatoid carcinoma skos:closeMatch DOID:0080777 lung sarcomatoid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcomatoid carcinoma of the lung LEXMATCH MONDO:0006372 pituicytoma skos:closeMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9432/1 LEXMATCH MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0006411 sinonasal undifferentiated carcinoma skos:closeMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537344 LEXMATCH MONDO:0006444 teratoma with malignant transformation skos:closeMatch DOID:0081246 teratoma with somatic-type malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9084/3 LEXMATCH MONDO:0006515 acute pancreatitis skos:closeMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019283 LEXMATCH -MONDO:0006594 pemphigus skos:closeMatch DOID:0080850 pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010392 LEXMATCH MONDO:0006624 overactive bladder skos:closeMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053201 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome LEXMATCH MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types LEXMATCH MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH +MONDO:0007060 spermatogenic failure 6 skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567302 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch DOID:0080964 intracranial berry aneurysm 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 LEXMATCH -MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch DOID:0080606 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 LEXMATCH MONDO:0007145 aplasia cutis congenita skos:closeMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hand abnormality and sensori-neural deafness LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 LEXMATCH +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness LEXMATCH +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hand abnormality and sensori-neural deafness LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 LEXMATCH MONDO:0007160 Stickler syndrome type 1 skos:closeMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007171 atrial standstill 1 skos:closeMatch DOID:0080662 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 LEXMATCH MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 LEXMATCH -MONDO:0007299 Sotos syndrome 1 skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 LEXMATCH -MONDO:0007364 arthrogryposis, distal, type 2E skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121070 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 LEXMATCH -MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080666 warfarin sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin sensitivity LEXMATCH +MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122700 LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin resistance LEXMATCH +MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080666 warfarin sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin sensitivity LEXMATCH MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080801 autosomal dominant craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch DOID:0080720 autosomal dominant congenital deafness with onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 LEXMATCH MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch DOID:0081061 nephrogenic diabetes insipidus type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 LEXMATCH MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH @@ -82,205 +49,91 @@ MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537659 LEXMATCH MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 LEXMATCH MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562880 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 LEXMATCH MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch DOID:0111349 hereditary desmoid disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial infiltrative fibromatosis LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 LEXMATCH +MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 LEXMATCH MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 LEXMATCH -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147430 LEXMATCH -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmoplantaris striata type 1 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536162 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q31.5 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 LEXMATCH +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535857 LEXMATCH MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 LEXMATCH MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch DOID:0111792 congenital nystagmus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164100 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567664 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 LEXMATCH +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567664 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch DOID:0112310 central precocious puberty 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 LEXMATCH MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566719 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 13 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 13 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als13 LEXMATCH -MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:closeMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183850 LEXMATCH -MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:closeMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566660 LEXMATCH MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch DOID:0112295 spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia algerian type LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535794 LEXMATCH +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia sutcliffe type LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia corner fracture type LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, type iii LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haas type syndactyly LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566092 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with associated metacarpal and metatarsal fusion LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 LEXMATCH MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch DOID:0081317 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 LEXMATCH -MONDO:0008545 thalassemia, beta+, silent allele skos:closeMatch DOID:0080771 beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187550 LEXMATCH -MONDO:0008545 thalassemia, beta+, silent allele skos:closeMatch DOID:0080774 thalassemia minor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187550 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188050 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin-related thrombophilia LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188050 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch DOID:0080701 prothrombin thrombophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin thrombophilia LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188055 LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor LEXMATCH MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 LEXMATCH MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 LEXMATCH MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 LEXMATCH +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia esophageal genital syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia microphthalmia esophageal atresia LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sox2 anophthalmia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with associated anomalies LEXMATCH MONDO:0008803 Antley-Bixler syndrome skos:closeMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antley bixler syndrome LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch DOID:0080756 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 LEXMATCH -MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536320 LEXMATCH -MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211390 LEXMATCH MONDO:0008926 COFS syndrome skos:closeMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 LEXMATCH MONDO:0008966 Aagenaes syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c580017 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 LEXMATCH MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym massive macronodular adrenocortical disorder LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cutis laxa type ii classic type LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 LEXMATCH MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537004 LEXMATCH +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 LEXMATCH MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 LEXMATCH MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch DOID:0111985 immunodeficiency 32B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 LEXMATCH -MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch DOID:0080672 fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch DOID:0112249 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria iii LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga iii LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 LEXMATCH MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 LEXMATCH MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565535 LEXMATCH MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233600 LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567115 LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 LEXMATCH +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567115 LEXMATCH MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial pulmonary capillary hemangiomatosis LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537257 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylcobalamin deficiency, cble type LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12-responsive homocystinuria, cble type LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536081 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl glutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency LEXMATCH +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nag synthetase deficiency LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl glutamate synthetase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency LEXMATCH +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch DOID:0081145 common variable immunodeficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 LEXMATCH -MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leucine-sensitive hypoglycemia of infancy LEXMATCH -MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240800 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 LEXMATCH MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 LEXMATCH +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565476 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency LEXMATCH MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 LEXMATCH MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 LEXMATCH MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 3 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 LEXMATCH MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 LEXMATCH +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia sedaghatian type LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia type iv LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iii gamma LEXMATCH +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565367 LEXMATCH MONDO:0009693 plasma cell myeloma skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis LEXMATCH MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 LEXMATCH MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 LEXMATCH MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch DOID:0080991 multiminicore disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch DOID:0111842 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538337 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch DOID:0111842 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch DOID:0080390 nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch DOID:0080390 nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 LEXMATCH MONDO:0009762 nystagmus, congenital, autosomal recessive skos:closeMatch DOID:0111797 autosomal recessive congenital nystagmus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257400 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 LEXMATCH +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia (hpa) due to pterin-4-alpha-carbinolamine dehydratase deficiency LEXMATCH @@ -288,225 +141,119 @@ MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid de MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0080699 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency LEXMATCH MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sard deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch DOID:0080612 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 LEXMATCH MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564796 LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with intellectual disability LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564794 LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia short limb-hand type LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-abnormal calcification type LEXMATCH +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-hand type LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaepiphyseal dysplasia, short limb-hand type LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed type 2 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia short limb-hand type LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-hand type LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch DOID:0112195 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 LEXMATCH MONDO:0010090 Summitt syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 LEXMATCH MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564766 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563206 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562769 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562770 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562771 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair cancer syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence of ulna and fibula with severe limb deficiency LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild/schinzel phocomelia syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome LEXMATCH MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536479 LEXMATCH MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 LEXMATCH MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 LEXMATCH MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 LEXMATCH MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch DOID:0080884 vitamin D-dependent rickets type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564741 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors LEXMATCH -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536709 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch DOID:0112171 wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch DOID:0112171 wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 LEXMATCH -MONDO:0010217 de Sanctis-Cacchione syndrome skos:closeMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278800 LEXMATCH -MONDO:0010217 de Sanctis-Cacchione syndrome skos:closeMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535992 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536729 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome LEXMATCH MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia LEXMATCH MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 LEXMATCH MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 LEXMATCH MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch DOID:0112027 non-syndromic X-linked intellectual disability 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 LEXMATCH MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch DOID:0081043 fetal akinesia deformation sequence syndrome X-linked semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300073 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564714 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd x-linked LEXMATCH MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch DOID:0112060 Raynaud-Claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 LEXMATCH MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 LEXMATCH -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx21 LEXMATCH MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 2 LEXMATCH +MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx21 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic microphthalmia type 2 LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia cataracts radiculomegaly and septal heart defects LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564570 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 LEXMATCH +MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 2 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx58 LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564554 LEXMATCH MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 LEXMATCH MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx72 LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300280 LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564544 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:300291 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564539 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538057 LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 LEXMATCH MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 LEXMATCH MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acsl4-related intellectual disability LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx63 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxarx LEXMATCH +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acsl4-related intellectual disability LEXMATCH MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arx-related intellectual disability LEXMATCH +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxarx LEXMATCH +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 LEXMATCH MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 LEXMATCH MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 LEXMATCH +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome LEXMATCH MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx46 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563023 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia myelodysplasia syndrome LEXMATCH +MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 LEXMATCH MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination LEXMATCH -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 LEXMATCH -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:closeMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564505 LEXMATCH MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 LEXMATCH MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx45 LEXMATCH MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch DOID:0112030 non-syndromic X-linked intellectual disability 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 LEXMATCH MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch DOID:0080861 primary ovarian insufficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 LEXMATCH MONDO:0010350 premature ovarian failure 2A skos:closeMatch DOID:0080858 primary ovarian insufficiency 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300511 LEXMATCH MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch DOID:0112052 non-syndromic X-linked intellectual disability 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564491 LEXMATCH MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx30 LEXMATCH MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 LEXMATCH -MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx91 LEXMATCH MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300577 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch DOID:0112120 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 LEXMATCH +MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx91 LEXMATCH MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch DOID:0111796 congenital nystagmus 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300589 LEXMATCH MONDO:0010373 premature ovarian failure 2B skos:closeMatch DOID:0080859 primary ovarian insufficiency 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300604 LEXMATCH MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567070 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567068 LEXMATCH MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 LEXMATCH MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567068 LEXMATCH MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567067 LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567067 LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx93 LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300659 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566878 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 LEXMATCH +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 LEXMATCH MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567478 LEXMATCH -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567475 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations LEXMATCH +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 LEXMATCH +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 LEXMATCH MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch DOID:0080687 reducing body myopathy 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 LEXMATCH -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx96 LEXMATCH MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx97 LEXMATCH +MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx96 LEXMATCH MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz LEXMATCH -MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300807 LEXMATCH -MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567581 LEXMATCH +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx97 LEXMATCH +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 LEXMATCH MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch DOID:0111795 congenital nystagmus 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300814 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch DOID:0111898 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 LEXMATCH -MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch DOID:0112157 X-linked atrophic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch DOID:0112156 X-linked dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 LEXMATCH -MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx19 LEXMATCH MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 LEXMATCH +MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx19 LEXMATCH MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch DOID:0112031 non-syndromic X-linked intellectual disability 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 LEXMATCH -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx41 LEXMATCH MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 LEXMATCH -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx90 LEXMATCH +MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx41 LEXMATCH MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 LEXMATCH +MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx90 LEXMATCH MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch DOID:0112032 non-syndromic X-linked intellectual disability 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 LEXMATCH MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch DOID:0112053 non-syndromic X-linked intellectual disability 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia LEXMATCH MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch DOID:0080968 intracranial berry aneurysm 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 LEXMATCH MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx98 LEXMATCH MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos LEXMATCH MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation LEXMATCH +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos LEXMATCH +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 LEXMATCH MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx99 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 LEXMATCH @@ -515,251 +262,146 @@ MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx101 LEXMATCH MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 LEXMATCH MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 LEXMATCH MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies LEXMATCH +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 LEXMATCH MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx12 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch DOID:0111865 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 LEXMATCH MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 LEXMATCH -MONDO:0010504 immunodeficiency 47 skos:closeMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300972 LEXMATCH -MONDO:0010504 immunodeficiency 47 skos:closeMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features LEXMATCH MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 LEXMATCH MONDO:0010508 intellectual disability, X-linked 103 skos:closeMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300982 LEXMATCH MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 LEXMATCH MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch DOID:0112036 non-syndromic X-linked intellectual disability 105 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300984 LEXMATCH MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch DOID:0111863 X-linked congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300985 LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300988 LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:closeMatch DOID:0111861 Meester-Loeys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300989 LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 LEXMATCH MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564461 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 LEXMATCH MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 LEXMATCH +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 LEXMATCH MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 LEXMATCH -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch DOID:0081164 dilated cardiomyopathy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 LEXMATCH +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 LEXMATCH MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 LEXMATCH +MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302600 LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement early-onset LEXMATCH -MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 LEXMATCH MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch DOID:0081060 X-linked nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch DOID:0111388 X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562515 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed LEXMATCH MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 LEXMATCH MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 LEXMATCH MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 3 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile xe syndrome LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 LEXMATCH MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx9 LEXMATCH MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 LEXMATCH MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 LEXMATCH MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked mental retardation gustavson type LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564100 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:309801 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537466 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch DOID:0111790 congenital nystagmus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310700 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile x-associated primary ovarian insufficiency LEXMATCH MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmr1-related primary ovarian insufficiency LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch DOID:0080776 partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile x-associated primary ovarian insufficiency LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536692 LEXMATCH MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 LEXMATCH MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch DOID:0080887 vitamin D-dependent rickets type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 LEXMATCH -MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:closeMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564003 LEXMATCH -MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:closeMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600093 LEXMATCH MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch DOID:0111706 oblique facial clefting 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 LEXMATCH +MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH +MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome LEXMATCH MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch DOID:0070343 CSF1R-related brain malformation and osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 LEXMATCH MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 LEXMATCH MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch DOID:0080885 vitamin D-dependent rickets type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch DOID:0081063 DICER1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 LEXMATCH -MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch DOID:0080680 neuronal intestinal dysplasia type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537686 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 LEXMATCH MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch DOID:0081016 congenital fibrosis of the extraocular muscles 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articulatory apraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder-1 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental apraxia of speech LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd axial LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome LEXMATCH +MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy LEXMATCH +MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus LEXMATCH MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch DOID:0081102 familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 LEXMATCH MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 LEXMATCH MONDO:0011381 dominant beta-thalassemia skos:closeMatch DOID:0080770 autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency LEXMATCH -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 LEXMATCH MONDO:0011493 Stickler syndrome type 2 skos:closeMatch DOID:0080675 Stickler syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 LEXMATCH MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 LEXMATCH MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch DOID:0081115 benign familial infantile seizures 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 LEXMATCH MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch DOID:0070341 neonatal-onset type II citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch DOID:0080718 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536130 LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 LEXMATCH MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565232 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:607095 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564608 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 LEXMATCH MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 LEXMATCH +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 LEXMATCH MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch DOID:0081178 autosomal recessive intellectual developmental disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 LEXMATCH MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564393 LEXMATCH MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism LEXMATCH MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 LEXMATCH MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 LEXMATCH +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism LEXMATCH +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 LEXMATCH MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch DOID:0081144 common variable immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536163 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch DOID:0081116 benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 LEXMATCH MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566440 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch DOID:0080746 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564275 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9875/3 LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566440 LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia LEXMATCH MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch DOID:0111793 congenital nystagmus 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608345 LEXMATCH MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564252 LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk LEXMATCH +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564252 LEXMATCH MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch DOID:0081179 autosomal recessive intellectual developmental disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch DOID:0080410 familial adenomatous polyposis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 LEXMATCH MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch DOID:0080965 intracranial berry aneurysm 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch DOID:0080695 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608572 LEXMATCH MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 LEXMATCH MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 LEXMATCH MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 2 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563825 LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy LEXMATCH MONDO:0012169 premature ovarian failure 3 skos:closeMatch DOID:0080860 primary ovarian insufficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608996 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563803 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia type a4 LEXMATCH +MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563803 LEXMATCH MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch DOID:0080966 intracranial berry aneurysm 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563791 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonautoimmune hyperthyroidism LEXMATCH MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:closeMatch DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609223 LEXMATCH MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 LEXMATCH +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch DOID:0081019 congenital fibrosis of the extraocular muscles 3C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536925 LEXMATCH MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch DOID:0081237 acromesomelic dysplasia-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch DOID:0080682 autosomal dominant familial visceral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 7q11.23 duplication syndrome LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 LEXMATCH MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 LEXMATCH MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 3 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 LEXMATCH MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565223 LEXMATCH MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566492 LEXMATCH +MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 LEXMATCH MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566492 LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 LEXMATCH MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566483 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch DOID:0080921 bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10783 LEXMATCH MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566441 LEXMATCH MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency due to defect in cd3-zeta LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565712 LEXMATCH +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566441 LEXMATCH MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch DOID:0080967 intracranial berry aneurysm 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch DOID:0080597 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:610253 LEXMATCH MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 LEXMATCH MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 LEXMATCH MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563678 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566470 LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 LEXMATCH MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 LEXMATCH MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536355 LEXMATCH MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder LEXMATCH MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565185 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565184 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 LEXMATCH MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch DOID:0081180 autosomal recessive intellectual developmental disorder 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 LEXMATCH MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch DOID:0081181 autosomal recessive intellectual developmental disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 LEXMATCH MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch DOID:0081182 autosomal recessive intellectual developmental disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 LEXMATCH @@ -768,99 +410,61 @@ MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch DOI MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 LEXMATCH MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch DOID:0081186 autosomal recessive intellectual developmental disorder 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611097 LEXMATCH MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch DOID:0081187 autosomal recessive intellectual developmental disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 LEXMATCH MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567006 LEXMATCH +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 LEXMATCH MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566928 LEXMATCH MONDO:0012689 premature ovarian failure 5 skos:closeMatch DOID:0080862 primary ovarian insufficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611548 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566908 LEXMATCH MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:closeMatch DOID:0112302 spondylometaphyseal dysplasia East African type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611702 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567128 LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech LEXMATCH MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch DOID:0080969 intracranial berry aneurysm 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567425 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 LEXMATCH MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch DOID:0080970 intracranial berry aneurysm 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 LEXMATCH MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch DOID:0080971 intracranial berry aneurysm 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567353 LEXMATCH MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive protein c deficiency LEXMATCH +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567353 LEXMATCH +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 LEXMATCH MONDO:0012861 premature ovarian failure 6 skos:closeMatch DOID:0080863 primary ovarian insufficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612310 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 LEXMATCH -MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567341 LEXMATCH -MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612348 LEXMATCH MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf type 2 deficiency LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heparin cofactor ii deficiency LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562865 LEXMATCH -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch DOID:0111901 heparin cofactor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612356 LEXMATCH MONDO:0012883 acute promyelocytic leukemia skos:closeMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9866/3 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567281 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567280 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567254 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567253 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 LEXMATCH +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome LEXMATCH MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch DOID:0080972 intracranial berry aneurysm 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 LEXMATCH MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch DOID:0080973 intracranial berry aneurysm 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 LEXMATCH MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch DOID:0081117 benign familial infantile seizures 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 LEXMATCH MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch DOID:0081138 agammaglobulinemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557826 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 LEXMATCH +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557826 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557827 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency LEXMATCH +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 LEXMATCH +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency LEXMATCH MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565102 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 LEXMATCH MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 LEXMATCH MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 LEXMATCH MONDO:0013065 premature ovarian failure 7 skos:closeMatch DOID:0080864 primary ovarian insufficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612964 LEXMATCH MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal nonepidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 3 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 LEXMATCH MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 LEXMATCH MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch DOID:0112131 severe congenital neutropenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 LEXMATCH MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 LEXMATCH +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 LEXMATCH MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH +MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 LEXMATCH MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 LEXMATCH +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567650 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567649 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 LEXMATCH MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613339 LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch DOID:0081107 hot water epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 LEXMATCH -MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613388 LEXMATCH MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 LEXMATCH MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 LEXMATCH MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 LEXMATCH @@ -872,40 +476,17 @@ MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch DOID:0081149 MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch DOID:0081135 agammaglobulinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 LEXMATCH MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch DOID:0081137 agammaglobulinemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 LEXMATCH MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch DOID:0080925 cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 2 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 LEXMATCH MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 LEXMATCH MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 4 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch DOID:0111944 immunodeficiency 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome type 3 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candf5 LEXMATCH MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch DOID:0080931 primary localized cutaneous amyloidosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 LEXMATCH +MONDO:0013505 spermatogenic failure 9 skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 LEXMATCH MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch DOID:0081188 autosomal recessive intellectual developmental disorder 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 LEXMATCH MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 LEXMATCH MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c LEXMATCH -MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch DOID:0080729 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614170 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency LEXMATCH -MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome skos:closeMatch DOID:0080380 nephrotic syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614199 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch DOID:0081097 Rafiq syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 LEXMATCH MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch DOID:0081189 autosomal recessive intellectual developmental disorder 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 LEXMATCH MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch DOID:0081190 autosomal recessive intellectual developmental disorder 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 LEXMATCH MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch DOID:0080974 intracranial berry aneurysm 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 LEXMATCH MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch DOID:0081191 autosomal recessive intellectual developmental disorder 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 LEXMATCH @@ -917,53 +498,31 @@ MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch DO MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch DOID:0081197 autosomal recessive intellectual developmental disorder 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 LEXMATCH MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch DOID:0081198 autosomal recessive intellectual developmental disorder 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 LEXMATCH MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch DOID:0081199 autosomal recessive intellectual developmental disorder 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 LEXMATCH -MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch DOID:0080806 cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614378 LEXMATCH MONDO:0013730 graft versus host disease skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 LEXMATCH MONDO:0013734 microphthalmia, syndromic 11 skos:closeMatch DOID:0111804 syndromic microphthalmia 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614402 LEXMATCH +MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 LEXMATCH MONDO:0013773 porencephaly 2 skos:closeMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566057 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect LEXMATCH MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch DOID:0081200 autosomal recessive intellectual developmental disorder 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 LEXMATCH -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 LEXMATCH -MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch DOID:0080673 fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614524 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614583 LEXMATCH MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch DOID:0081150 common variable immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 LEXMATCH MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch DOID:0081151 common variable immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 LEXMATCH MONDO:0013885 Malan overgrowth syndrome skos:closeMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 LEXMATCH MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 LEXMATCH MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch DOID:0111791 congenital nystagmus 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614826 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 28, mycobacteriosis LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 LEXMATCH MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch DOID:0111729 familial episodic pain syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 LEXMATCH -MONDO:0014046 Cowden syndrome 4 skos:closeMatch DOID:0081000 Cowden syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 LEXMATCH -MONDO:0014047 Cowden syndrome 5 skos:closeMatch DOID:0081001 Cowden syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 LEXMATCH -MONDO:0014048 Cowden syndrome 6 skos:closeMatch DOID:0081002 Cowden syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 LEXMATCH MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch DOID:0081201 autosomal recessive intellectual developmental disorder 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 LEXMATCH MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 LEXMATCH MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch DOID:0081111 osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 LEXMATCH MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency LEXMATCH MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 LEXMATCH MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 LEXMATCH +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency LEXMATCH MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch DOID:0081139 agammaglobulinemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 LEXMATCH MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 LEXMATCH MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 LEXMATCH @@ -972,264 +531,157 @@ MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch DOID:0 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 LEXMATCH MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch DOID:0080788 proximal symphalangism 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 LEXMATCH MONDO:0014137 precocious puberty, central, 2 skos:closeMatch DOID:0112309 central precocious puberty 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 LEXMATCH +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch DOID:0081157 dilated cardiomyopathy 1LL semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch DOID:0081158 dilated cardiomyopathy 1MM semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 LEXMATCH MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch DOID:0080893 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome LEXMATCH +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 LEXMATCH MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 LEXMATCH MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch DOID:0081202 autosomal recessive intellectual developmental disorder 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr LEXMATCH MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome LEXMATCH +MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr LEXMATCH MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch DOID:0081203 autosomal recessive intellectual developmental disorder 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 13 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic cd4 lymphopenia LEXMATCH MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 LEXMATCH MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch DOID:0081204 autosomal recessive intellectual developmental disorder 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch DOID:0111715 Schaaf-Yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch DOID:0111882 Diamond-Blackfan anemia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 LEXMATCH MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch DOID:0111731 familial episodic pain syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 LEXMATCH MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch DOID:0081152 common variable immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 LEXMATCH MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch DOID:0111959 immunodeficiency 15B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 LEXMATCH +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch DOID:0081205 autosomal recessive intellectual developmental disorder 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch DOID:0080759 Fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 LEXMATCH -MONDO:0014278 immunodeficiency 18 skos:closeMatch DOID:0111971 immunodeficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615615 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 LEXMATCH MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch DOID:0081206 autosomal recessive intellectual developmental disorder 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 LEXMATCH MONDO:0014321 premature ovarian failure 8 skos:closeMatch DOID:0080865 primary ovarian insufficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615723 LEXMATCH MONDO:0014322 premature ovarian failure 9 skos:closeMatch DOID:0080866 primary ovarian insufficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615724 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 LEXMATCH -MONDO:0014329 atrial standstill 2 skos:closeMatch DOID:0080663 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch DOID:0080924 bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 LEXMATCH MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch DOID:0081153 common variable immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 LEXMATCH MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch DOID:0111953 immunodeficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 LEXMATCH +MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 LEXMATCH MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch DOID:0081207 autosomal recessive intellectual developmental disorder 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome LEXMATCH -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 LEXMATCH -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome LEXMATCH MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch DOID:0080686 tubular aggregate myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 LEXMATCH MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 LEXMATCH +MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 LEXMATCH MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch DOID:0081208 autosomal recessive intellectual developmental disorder 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 LEXMATCH -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 LEXMATCH MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch DOID:0081209 autosomal recessive intellectual developmental disorder 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:closeMatch DOID:0111949 immunodeficiency 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 LEXMATCH MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 LEXMATCH -MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch DOID:0080760 Fanconi renotubular syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616026 LEXMATCH MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch DOID:0112334 pontocerebellar hypoplasia type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related LEXMATCH MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 LEXMATCH -MONDO:0014491 immunodeficiency 37 skos:closeMatch DOID:0111939 immunodeficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616098 LEXMATCH +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related LEXMATCH MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch DOID:0081210 autosomal recessive intellectual developmental disorder 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38, mycobacteriosis, autosomal recessive LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification LEXMATCH +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catel manzke syndrome LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 LEXMATCH MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch DOID:0081243 rhizomelic chondrodysplasia punctate type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 LEXMATCH MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch DOID:0081211 autosomal recessive intellectual developmental disorder 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 LEXMATCH MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch DOID:0112236 lissencephaly 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 LEXMATCH MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch DOID:0081020 congenital fibrosis of the extraocular muscles 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 LEXMATCH MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch DOID:0081212 autosomal recessive intellectual developmental disorder 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 LEXMATCH MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch DOID:0081134 3-methylglutaconic aciduria type 7b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 LEXMATCH -MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:closeMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616342 LEXMATCH -MONDO:0014597 immunodeficiency 39 skos:closeMatch DOID:0111969 immunodeficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616345 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch DOID:0111869 photosensitive trichothiodystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch DOID:0111871 photosensitive trichothiodystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 LEXMATCH MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 LEXMATCH MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder LEXMATCH MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch DOID:0080411 familial adenomatous polyposis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 LEXMATCH MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 LEXMATCH +MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 LEXMATCH MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch DOID:0081213 autosomal recessive intellectual developmental disorder 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 6 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565035 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 LEXMATCH MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch DOID:0081154 common variable immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 LEXMATCH MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch DOID:0112281 spondyloepiphyseal dysplasia Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 LEXMATCH MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch DOID:0111975 immunodeficiency 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616636 LEXMATCH -MONDO:0014727 immunodeficiency 45 skos:closeMatch DOID:0111994 immunodeficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616669 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10p12-p11 deletion syndrome LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 LEXMATCH MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch DOID:0112243 congenital symmetric circumferential skin creases 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 LEXMATCH MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch DOID:0081214 autosomal recessive intellectual developmental disorder 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 LEXMATCH MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency due to tfrc deficiency LEXMATCH -MONDO:0014802 Cowden syndrome 7 skos:closeMatch DOID:0081003 Cowden syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616858 LEXMATCH +MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 LEXMATCH MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch DOID:0081155 common variable immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 LEXMATCH MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation LEXMATCH +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 LEXMATCH MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch DOID:0081215 autosomal recessive intellectual developmental disorder 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616938 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 5 LEXMATCH MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch DOID:0081140 agammaglobulinemia 8A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 LEXMATCH MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch DOID:0111872 nonphotosensitive trichothiodystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 LEXMATCH -MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080868 primary ovarian insufficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080869 primary ovarian insufficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH +MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080868 primary ovarian insufficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 LEXMATCH MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch DOID:0112329 pontocerebellar hypoplasia type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 LEXMATCH MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch DOID:0081216 autosomal recessive intellectual developmental disorder 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 LEXMATCH MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch DOID:0081118 benign familial infantile seizures 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch DOID:0081011 Bardet-Biedl syndrome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch DOID:0081009 Bardet-Biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 20 LEXMATCH MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch DOID:0081217 autosomal recessive intellectual developmental disorder 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617125 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch DOID:0080718 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617158 LEXMATCH MONDO:0014951 Sotos syndrome 3 skos:closeMatch DOID:0081218 autosomal recessive intellectual developmental disorder 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 LEXMATCH -MONDO:0014951 Sotos syndrome 3 skos:closeMatch DOID:0112104 Sotos syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch DOID:0081008 intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 LEXMATCH MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 LEXMATCH -MONDO:0014961 spermatogenic failure 16 skos:closeMatch DOID:0112311 male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome LEXMATCH MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch DOID:0081219 autosomal recessive intellectual developmental disorder 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 LEXMATCH MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 LEXMATCH MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch DOID:0112348 hereditary spastic paraplegia 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 LEXMATCH MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 LEXMATCH -MONDO:0014981 immunodeficiency 49 skos:closeMatch DOID:0111979 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617237 LEXMATCH -MONDO:0014992 lissencephaly 8 skos:closeMatch DOID:0112233 lissencephaly 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617255 LEXMATCH MONDO:0014996 intellectual disability, autosomal recessive 58 skos:closeMatch DOID:0081220 autosomal recessive intellectual developmental disorder 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617270 LEXMATCH MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch DOID:0080769 early-onset vitamin B6-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617290 LEXMATCH MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 LEXMATCH MONDO:0015009 lymphatic malformation 7 skos:closeMatch DOID:0081030 central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617300 LEXMATCH MONDO:0015020 intellectual disability, autosomal recessive 59 skos:closeMatch DOID:0081221 autosomal recessive intellectual developmental disorder 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617323 LEXMATCH -MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:closeMatch DOID:0081176 hypotonia, ataxia, and delayed development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617330 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:617468 LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565097 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation LEXMATCH -MONDO:0015588 limbic encephalitis skos:closeMatch DOID:0080741 limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020363 LEXMATCH MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 LEXMATCH +MONDO:0015746 male infertility due to globozoospermia skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia LEXMATCH MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch DOID:0080724 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:127000 LEXMATCH +MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch DOID:0081127 mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:248370 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 LEXMATCH MONDO:0016642 meningioma skos:closeMatch DOID:0080843 supratentorial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:136760 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0080876 IDH-wildtype anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH +MONDO:0016642 meningioma skos:closeMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 LEXMATCH MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0080876 IDH-wildtype anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9451/3 LEXMATCH MONDO:0016698 ependymoma skos:closeMatch DOID:0080889 posterior fossa ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9391/3 LEXMATCH MONDO:0016698 ependymoma skos:closeMatch DOID:0080890 supratentorial ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9391/3 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch DOID:5889 anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9392/3 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch DOID:0081261 angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9431/1 LEXMATCH MONDO:0016707 astroblastoma skos:closeMatch DOID:0080904 astroblastoma, MN1-altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9430/3 LEXMATCH MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9361/1 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch DOID:0081251 papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9395/3 LEXMATCH MONDO:0016727 extraventricular neurocytoma skos:closeMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9506/1 LEXMATCH +MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081285 myxoid glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch DOID:3125 multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009377 LEXMATCH MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9735/3 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000069293 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch DOID:0112191 tetraamelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetra-amelia syndrome LEXMATCH MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch DOID:0080780 acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9840/3 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch DOID:0080699 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch DOID:0111866 trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:601675 LEXMATCH MONDO:0018177 glioblastoma skos:closeMatch DOID:0080878 IDH-wildtype glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9440/3 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch DOID:0070348 spinal muscular atrophy with lower extremity predominant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:158600 LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch DOID:0112374 muscular dystrophy-dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy due to dystroglycanopathy LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c585640 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch DOID:0080751 keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 LEXMATCH MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9867/3 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9861/3 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH +MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH +MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9861/3 LEXMATCH MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz dysplasia LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 1 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564038 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch DOID:0080852 paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:l10.81 LEXMATCH +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 LEXMATCH MONDO:0019082 bullous pemphigoid skos:closeMatch DOID:0080841 pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid LEXMATCH MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch DOID:0080745 polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 LEXMATCH MONDO:0019134 central neurocytoma skos:closeMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9506/1 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe hereditary thrombophilia due to congenital protein s deficiency LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch DOID:0080775 complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024406 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562567 LEXMATCH MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0019284 inherited isolated nail anomaly skos:closeMatch DOID:0080683 nonsyndromic congenital nail disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:161050 LEXMATCH MONDO:0019297 lymphedema skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008209 LEXMATCH MONDO:0019313 lymphatic malformation skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch DOID:0080744 antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch DOID:6785 desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8806/3 LEXMATCH MONDO:0019438 AL amyloidosis skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym light chain amyloidosis LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:0010563 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis beta2m LEXMATCH MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9895/3 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch DOID:0080795 acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9870/3 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9833/3 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081309 grade II lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9834/3 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch DOID:0080797 nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9719/3 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9755/3 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 LEXMATCH +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081309 grade II lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch DOID:0080726 Ehlers-Danlos syndrome classic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch DOID:0080941 acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 LEXMATCH MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch DOID:0081094 acute myeloid leukemia with MLL rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9897/3 LEXMATCH MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9874/3 LEXMATCH MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9712/3 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king denborough syndrome LEXMATCH MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH +MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king denborough syndrome LEXMATCH MONDO:0020496 familial porencephaly skos:closeMatch DOID:0112313 brain small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:175780 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 LEXMATCH MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 LEXMATCH MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 LEXMATCH MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 LEXMATCH @@ -1242,161 +694,64 @@ MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch D MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch DOID:0080886 vitamin D-dependent rickets type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 LEXMATCH MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch DOID:0081136 agammaglobulinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 LEXMATCH MONDO:0020733 proximal symphalangism 1A skos:closeMatch DOID:0080787 proximal symphalangism 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia LEXMATCH MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch DOID:0112242 congenital symmetric circumferential skin creases 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch DOID:0081078 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 LEXMATCH -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy LEXMATCH MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 LEXMATCH MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch DOID:0080670 Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 LEXMATCH MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch DOID:0081297 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 LEXMATCH MONDO:0020846 intellectual disability, autosomal recessive 64 skos:closeMatch DOID:0081225 autosomal recessive intellectual developmental disorder 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618103 LEXMATCH -MONDO:0020849 immunodeficiency 57 skos:closeMatch DOID:0111952 immunodeficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618108 LEXMATCH MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch DOID:0081226 autosomal recessive intellectual developmental disorder 65 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618109 LEXMATCH -MONDO:0020851 spermatogenic failure 30 skos:closeMatch DOID:0111913 spermatogenic failure 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618110 LEXMATCH -MONDO:0020852 spermatogenic failure 31 skos:closeMatch DOID:0111922 spermatogenic failure 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618112 LEXMATCH -MONDO:0020855 spermatogenic failure 32 skos:closeMatch DOID:0111925 spermatogenic failure 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618115 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch DOID:0111867 nonphotosensitive trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonphotosensitive trichothiodystrophy LEXMATCH MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080807 autosomal dominant craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch DOID:0080775 complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:e34.51 LEXMATCH MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch DOID:0081015 congenital fibrosis of the extraocular muscles 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch DOID:0080803 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218330 LEXMATCH -MONDO:0021553 transverse myelitis skos:closeMatch DOID:0080743 transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transverse myelitis LEXMATCH MONDO:0022417 alopecia congenita keratosis palmoplantaris skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537050 LEXMATCH -MONDO:0022742 occupational asthma skos:closeMatch DOID:0080820 occupational asthma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label occupational asthma LEXMATCH -MONDO:0022963 desmoplastic infantile astrocytoma skos:closeMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9412/1 LEXMATCH -MONDO:0022993 dipsogenic diabetes insipidus skos:closeMatch DOID:0081058 dipsogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548013 LEXMATCH -MONDO:0023227 gestational diabetes insipidus skos:closeMatch DOID:0081057 gestational diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548014 LEXMATCH -MONDO:0023664 spermatogenic failure 54 skos:closeMatch DOID:0112335 spermatogenic failure 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619379 LEXMATCH -MONDO:0023670 Bardet-Biedl syndrome 20 skos:closeMatch DOID:0081009 Bardet-Biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619471 LEXMATCH MONDO:0023671 oculopharyngodistal myopathy 3 skos:closeMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619473 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081106 hot water epilepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH +MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH +MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081106 hot water epilepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch DOID:0080930 primary localized cutaneous amyloidosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch DOID:0080757 Fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309801 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch DOID:0080717 infantile liver failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615438 LEXMATCH MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:164310 LEXMATCH -MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch DOID:0112274 X-linked spermatogenic failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 LEXMATCH -MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch DOID:0112370 Coffin-Siris syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619325 LEXMATCH MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch DOID:0112099 nuclear type mitochondrial complex I deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 LEXMATCH MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch DOID:0112098 nuclear type mitochondrial complex I deficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 LEXMATCH -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301022 LEXMATCH -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome LEXMATCH MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch DOID:0111844 X-linked intellectual developmental disorder 108 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301024 LEXMATCH -MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paganini-miozzo syndrome LEXMATCH -MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301025 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shukla-vernon syndrome LEXMATCH MONDO:0026729 congenital disorder of glycosylation, type ICC skos:closeMatch DOID:0111839 congenital disorder of glycosylation Icc semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301031 LEXMATCH -MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch DOID:0111838 Basilicata-Akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301032 LEXMATCH -MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch DOID:0111837 congenital nongoitrous hypothyroidism 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301033 LEXMATCH MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch DOID:0111835 congenital nongoitrous hypothyroidism 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301035 LEXMATCH -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301051 LEXMATCH -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency LEXMATCH -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch DOID:0112063 X-Linked immunodeficiency 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch DOID:0080828 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 LEXMATCH MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 skos:closeMatch DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500014 LEXMATCH MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related LEXMATCH MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch DOID:0112165 autosomal dominant nonsyndromic deafness 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 LEXMATCH MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 33 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch DOID:0112117 combined oxidative phosphorylation deficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 LEXMATCH -MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:closeMatch DOID:0112119 combined oxidative phosphorylation deficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618838 LEXMATCH -MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:closeMatch DOID:0112118 combined oxidative phosphorylation deficiency 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618839 LEXMATCH MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch DOID:0080950 alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 LEXMATCH -MONDO:0030013 immunodeficiency 66 skos:closeMatch DOID:0111998 immunodeficiency 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618847 LEXMATCH -MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:closeMatch DOID:0112116 combined oxidative phosphorylation deficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618851 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch DOID:0080963 anauxetic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618853 LEXMATCH -MONDO:0030026 retinal dystrophy with leukodystrophy skos:closeMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618863 LEXMATCH MONDO:0030027 tremor, hereditary essential, 6 skos:closeMatch DOID:0081295 essential tremor 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618866 LEXMATCH -MONDO:0030031 lissencephaly 10 skos:closeMatch DOID:0112229 lissencephaly 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618873 LEXMATCH -MONDO:0030049 46,xx sex reversal 5 skos:closeMatch DOID:0080943 46,XX sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618901 LEXMATCH MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch DOID:0080761 Fanconi renotubular syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618913 LEXMATCH MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch DOID:0112168 autosomal dominant nonsyndromic deafness 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 LEXMATCH MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 LEXMATCH -MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch DOID:0080959 arrhythmogenic right ventricular dysplasia 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618920 LEXMATCH -MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:closeMatch DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618929 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch DOID:0080792 Treacher Collins syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618939 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch DOID:0112146 retinitis pigmentosa 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618955 LEXMATCH MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618961 LEXMATCH MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618940 LEXMATCH MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch DOID:0112325 pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619301 LEXMATCH MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:closeMatch DOID:0112326 pontocerebellar hypoplasia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619302 LEXMATCH MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:closeMatch DOID:0112330 pontocerebellar hypoplasia type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619303 LEXMATCH MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:closeMatch DOID:0112331 pontocerebellar hypoplasia type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619304 LEXMATCH MONDO:0030281 arthrogryposis multiplex congenita 6 skos:closeMatch DOID:0070336 arthrogryposis multiplex congenita-6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619334 LEXMATCH -MONDO:0030300 cardiomyopathy, dilated, 2D skos:closeMatch DOID:0081160 dilated cardiomyopathy 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619371 LEXMATCH -MONDO:0030307 spermatogenic failure 55 skos:closeMatch DOID:0112337 spermatogenic failure 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619380 LEXMATCH -MONDO:0030366 cardiomyopathy, dilated, 2E skos:closeMatch DOID:0081161 dilated cardiomyopathy 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619492 LEXMATCH -MONDO:0030430 spermatogenic failure 56 skos:closeMatch DOID:0112336 spermatogenic failure 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619515 LEXMATCH MONDO:0030438 pontocerebellar hypoplasia, type 16 skos:closeMatch DOID:0112333 pontocerebellar hypoplasia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619527 LEXMATCH -MONDO:0030439 spermatogenic failure 57 skos:closeMatch DOID:0112338 spermatogenic failure 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619528 LEXMATCH -MONDO:0030463 spermatogenic failure 58 skos:closeMatch DOID:0112352 spermatogenic failure 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619585 LEXMATCH MONDO:0030482 spastic paraplegia 84, autosomal recessive skos:closeMatch DOID:0112347 hereditary spastic paraplegia 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619621 LEXMATCH -MONDO:0030492 spermatogenic failure 59 skos:closeMatch DOID:0112357 spermatogenic failure 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619645 LEXMATCH -MONDO:0030493 spermatogenic failure 60 skos:closeMatch DOID:0112355 spermatogenic failure 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619646 LEXMATCH -MONDO:0030507 spermatogenic failure 61 skos:closeMatch DOID:0112350 spermatogenic failure 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619672 LEXMATCH -MONDO:0030508 spermatogenic failure 62 skos:closeMatch DOID:0112351 spermatogenic failure 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619673 LEXMATCH MONDO:0030512 spastic paraplegia 85, autosomal recessive skos:closeMatch DOID:0112345 hereditary spastic paraplegia 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619686 LEXMATCH -MONDO:0030515 spermatogenic failure 63 skos:closeMatch DOID:0112356 spermatogenic failure 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619689 LEXMATCH MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:closeMatch DOID:0081141 agammaglobulinemia 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619693 LEXMATCH -MONDO:0030522 spermatogenic failure 64 skos:closeMatch DOID:0112353 spermatogenic failure 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619696 LEXMATCH MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:closeMatch DOID:0081142 agammaglobulinemia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619707 LEXMATCH -MONDO:0030531 spermatogenic failure 65 skos:closeMatch DOID:0112354 spermatogenic failure 65 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619712 LEXMATCH MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:closeMatch DOID:0081233 autosomal recessive intellectual developmental disorder 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619717 LEXMATCH MONDO:0030553 acromesomelic dysplasia 4 skos:closeMatch DOID:0081238 acromesomelic dysplasia-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619636 LEXMATCH -MONDO:0030639 Teebi hypertelorism syndrome skos:closeMatch DOID:0081073 Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:145420 LEXMATCH MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:closeMatch DOID:0112342 hereditary spastic paraplegia 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619735 LEXMATCH -MONDO:0030674 Teebi hypertelorism syndrome 2 skos:closeMatch DOID:0081074 Teebi hypertelorism syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619736 LEXMATCH -MONDO:0030680 cardiomyopathy, dilated, 2F skos:closeMatch DOID:0081162 dilated cardiomyopathy 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619747 LEXMATCH MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619790 LEXMATCH MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:closeMatch DOID:0081234 autosomal recessive intellectual developmental disorder 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619827 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:closeMatch DOID:0112175 spermatogenic failure 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619102 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch DOID:0112176 spermatogenic failure 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619108 LEXMATCH MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch DOID:0112190 distal arthrogryposis type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch DOID:0112223 developmental and epileptic encephalopathy 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619124 LEXMATCH MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619131 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:closeMatch DOID:0112271 spermatogenic failure 49 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619144 LEXMATCH MONDO:0030869 spermatogenic failures 50 skos:closeMatch DOID:0112272 spermatogenic failure 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619145 LEXMATCH MONDO:0030870 premature ovarian failure 17 skos:closeMatch DOID:0080874 primary ovarian insufficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619146 LEXMATCH -MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch DOID:0081163 dilated cardiomyopathy 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619897 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch DOID:0080952 AMED syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 LEXMATCH -MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch DOID:0112268 nephrotic syndrome type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619155 LEXMATCH -MONDO:0030926 spermatogenic failure 51 skos:closeMatch DOID:0112273 spermatogenic failure 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619177 LEXMATCH -MONDO:0030938 spermatogenic failure 52 skos:closeMatch DOID:0112270 spermatogenic failure 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619202 LEXMATCH MONDO:0030939 premature ovarian failure 18 skos:closeMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619203 LEXMATCH -MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:closeMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619184 LEXMATCH -MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch DOID:0112266 nephrotic syndrome type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619201 LEXMATCH MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch DOID:0081235 autosomal recessive intellectual developmental disorder 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619931 LEXMATCH -MONDO:0030981 immunodeficiency 79 skos:closeMatch DOID:0112277 immunodeficiency 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619238 LEXMATCH MONDO:0030985 premature ovarian failure 19 skos:closeMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619245 LEXMATCH -MONDO:0030989 spermatogenic failure 53 skos:closeMatch DOID:0112279 spermatogenic failure 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619258 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619260 LEXMATCH MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:closeMatch DOID:0081236 autosomal recessive intellectual developmental disorder 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619988 LEXMATCH -MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:closeMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:213980 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 83 LEXMATCH -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch DOID:0081159 dilated cardiomyopathy 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 LEXMATCH MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 15a LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 84 LEXMATCH MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch DOID:0081227 autosomal recessive intellectual developmental disorder 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 LEXMATCH MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch DOID:0112083 nuclear type mitochondrial complex I deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 LEXMATCH MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch DOID:0112093 nuclear type mitochondrial complex I deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 LEXMATCH @@ -1434,97 +789,41 @@ MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:c MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 LEXMATCH MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch DOID:0111853 primary ciliary dyskinesia 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618300 LEXMATCH MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch DOID:0081229 autosomal recessive intellectual developmental disorder 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618302 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 18 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 20 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 9 with complex brainstem malformation LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy LEXMATCH MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 LEXMATCH -MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618341 LEXMATCH -MONDO:0032686 spermatogenic failure 35 skos:closeMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 LEXMATCH +MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy LEXMATCH MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 85 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 LEXMATCH -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618346 LEXMATCH -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 LEXMATCH MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:closeMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618374 LEXMATCH MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch DOID:0081230 autosomal recessive intellectual developmental disorder 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618383 LEXMATCH MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes LEXMATCH MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618392 LEXMATCH -MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 60 LEXMATCH -MONDO:0032723 immunodeficiency 60 skos:closeMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618394 LEXMATCH MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 LEXMATCH MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch DOID:0081231 autosomal recessive intellectual developmental disorder 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 LEXMATCH MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch DOID:0112341 hereditary spastic paraplegia 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618418 LEXMATCH -MONDO:0032739 spermatogenic failure 36 skos:closeMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 LEXMATCH -MONDO:0032739 spermatogenic failure 36 skos:closeMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618420 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 38 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 LEXMATCH MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 LEXMATCH MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch DOID:0111858 primary ciliary dyskinesia 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 LEXMATCH -MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618459 LEXMATCH -MONDO:0032763 immunodeficiency 62 skos:closeMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 LEXMATCH -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency LEXMATCH -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 LEXMATCH MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 LEXMATCH MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch DOID:0080979 arthrogryposis multiplex congenita-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618495 LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency LEXMATCH -MONDO:0032783 aortic valve disease 3 skos:closeMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 LEXMATCH -MONDO:0032783 aortic valve disease 3 skos:closeMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618496 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 LEXMATCH +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618495 LEXMATCH +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch DOID:0081232 autosomal recessive intellectual developmental disorder 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618504 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 10 LEXMATCH -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch DOID:0081169 Leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 64 LEXMATCH MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch DOID:0111870 nonphotosensitive trichothiodystrophy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 LEXMATCH MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 LEXMATCH +MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 LEXMATCH MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 LEXMATCH MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618580 LEXMATCH MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 LEXMATCH -MONDO:0032826 nephrotic syndrome, type 21 skos:closeMatch DOID:0112267 nephrotic syndrome type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618594 LEXMATCH +MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618580 LEXMATCH MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618613 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 86 LEXMATCH MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch DOID:0112288 spondyloepiphyseal dysplasia Nishimura type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618620 LEXMATCH -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal obesity-metabolic syndrome type 4 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 LEXMATCH -MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618635 LEXMATCH MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 39 LEXMATCH +MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618635 LEXMATCH MONDO:0032846 osteogenesis imperfecta, type 20 skos:closeMatch DOID:0111849 osteogenesis imperfecta type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618644 LEXMATCH -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618648 LEXMATCH -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections LEXMATCH MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:closeMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618663 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 LEXMATCH MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch DOID:0080765 autosomal recessive intellectual developmental disorder 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618665 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 LEXMATCH MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch DOID:0111855 primary ciliary dyskinesia 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 LEXMATCH MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch DOID:0111856 primary ciliary dyskinesia 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618699 LEXMATCH MONDO:0032879 megabladder, congenital skos:closeMatch DOID:0112014 congenital megabladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618719 LEXMATCH MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618721 LEXMATCH @@ -1533,88 +832,39 @@ MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch DOID:0080975 intr MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618737 LEXMATCH MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618744 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like LEXMATCH +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome LEXMATCH MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618766 LEXMATCH MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 LEXMATCH MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch DOID:0112343 hereditary spastic paraplegia 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618770 LEXMATCH MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch DOID:0112091 nuclear type mitochondrial complex I deficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 LEXMATCH MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch DOID:0112166 autosomal dominant nonsyndromic deafness 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 LEXMATCH MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch DOID:0111851 primary ciliary dyskinesia 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 LEXMATCH MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch DOID:0112167 autosomal dominant nonsyndromic deafness 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 LEXMATCH -MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome LEXMATCH MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618792 LEXMATCH +MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome LEXMATCH MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch DOID:0111857 primary ciliary dyskinesia 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 LEXMATCH MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618804 LEXMATCH MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 LEXMATCH -MONDO:0033304 nonsyndromic deafness, Y-linked skos:closeMatch DOID:0111757 Y-linked deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:400043 LEXMATCH -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618951 LEXMATCH -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 45 LEXMATCH -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618952 LEXMATCH -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 46 LEXMATCH -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618958 LEXMATCH -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 LEXMATCH -MONDO:0033541 immunodeficiency 69 skos:closeMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618963 LEXMATCH -MONDO:0033541 immunodeficiency 69 skos:closeMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 LEXMATCH -MONDO:0033542 immunodeficiency 70 skos:closeMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 LEXMATCH -MONDO:0033542 immunodeficiency 70 skos:closeMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618969 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 LEXMATCH -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618982 LEXMATCH -MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:closeMatch DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618986 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 LEXMATCH +MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 LEXMATCH MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch DOID:0112139 nuclear type mitochondrial complex I deficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 LEXMATCH -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 LEXMATCH -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619012 LEXMATCH -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 LEXMATCH -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619024 LEXMATCH -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 LEXMATCH -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619025 LEXMATCH MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch DOID:0112346 hereditary spastic paraplegia 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619027 LEXMATCH MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch DOID:0112138 primary coenzyme Q10 deficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 LEXMATCH -MONDO:0033620 myofibrillar myopathy 10 skos:closeMatch DOID:0112108 myofibrillar myopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619040 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:closeMatch DOID:0112109 spermatogenic failure 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619044 LEXMATCH -MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:closeMatch DOID:0112137 combined oxidative phosphorylation deficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619057 LEXMATCH -MONDO:0033643 inflammatory bowel disease 30 skos:closeMatch DOID:0112154 inflammatory bowel disease 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619079 LEXMATCH MONDO:0033657 leukodystrophy, hypomyelinating, 20 skos:closeMatch DOID:0112153 hypomyelinating leukodystrophy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619071 LEXMATCH MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch DOID:0112159 autosomal dominant nonsyndromic deafness 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619081 LEXMATCH MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch DOID:0112160 autosomal dominant nonsyndromic deafness 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch DOID:0112161 Noonan syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619087 LEXMATCH MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch DOID:0112162 autosomal recessive nonsyndromic deafness 116 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:closeMatch DOID:0112163 spermatogenic failure 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619094 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:closeMatch DOID:0112164 spermatogenic failure 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619095 LEXMATCH MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch DOID:0080939 hereditary angioedema type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 LEXMATCH MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 LEXMATCH -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 LEXMATCH MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 LEXMATCH MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch DOID:0081114 benign familial infantile seizures 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617360 LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch DOID:0111880 Diamond-Blackfan anemia 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 LEXMATCH MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch DOID:0081222 autosomal recessive intellectual developmental disorder 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617432 LEXMATCH MONDO:0044317 premature ovarian failure 13 skos:closeMatch DOID:0080870 primary ovarian insufficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617442 LEXMATCH MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, type xviii LEXMATCH MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617952 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 52 LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 LEXMATCH MONDO:0044776 premature ovarian failure 10 skos:closeMatch DOID:0080867 primary ovarian insufficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612885 LEXMATCH @@ -1622,74 +872,28 @@ MONDO:0044777 premature ovarian failure 14 skos:closeMatch DOID:0080871 primary MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx107 LEXMATCH MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 LEXMATCH MONDO:0049223 osteogenesis imperfecta, type 19 skos:closeMatch DOID:0111847 osteogenesis imperfecta type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301014 LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia LEXMATCH -MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch DOID:0080962 anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 LEXMATCH -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 LEXMATCH MONDO:0054601 pituitary adenoma 5, multiple types skos:closeMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617540 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 LEXMATCH MONDO:0054665 pituitary adenoma 3, multiple types skos:closeMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617686 LEXMATCH MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch DOID:0112324 pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 LEXMATCH MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch DOID:0081156 common variable immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617765 LEXMATCH -MONDO:0054696 immunodeficiency 53 skos:closeMatch DOID:0111992 immunodeficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617585 LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617638 LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia LEXMATCH -MONDO:0054728 spermatogenic failure 24 skos:closeMatch DOID:0111929 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617959 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:closeMatch DOID:0111920 spermatogenic failure 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617960 LEXMATCH -MONDO:0054730 spermatogenic failure 26 skos:closeMatch DOID:0111924 spermatogenic failure 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617961 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:closeMatch DOID:0111928 spermatogenic failure 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:closeMatch DOID:0111916 spermatogenic failure 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 LEXMATCH -MONDO:0054733 spermatogenic failure 29 skos:closeMatch DOID:0111930 spermatogenic failure 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618091 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 3 LEXMATCH MONDO:0054752 multiple synostoses syndrome 4 skos:closeMatch DOID:0081320 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617898 LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 LEXMATCH MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch DOID:0080732 Ehlers-Danlos syndrome classic-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 LEXMATCH MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch DOID:0080669 posterior polymorphous corneal dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 LEXMATCH MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch DOID:0111852 primary ciliary dyskinesia 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 LEXMATCH MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch DOID:0112323 pontocerebellar hypoplasia type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 LEXMATCH -MONDO:0054849 inflammatory bowel disease 29 skos:closeMatch DOID:0112155 inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618077 LEXMATCH MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch DOID:0081224 autosomal recessive intellectual developmental disorder 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 LEXMATCH MONDO:0054862 premature ovarian failure 15 skos:closeMatch DOID:0080872 primary ovarian insufficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618096 LEXMATCH -MONDO:0060455 X-linked congenital hemolytic anemia skos:closeMatch DOID:0111846 X-linked congenital hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301015 LEXMATCH MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch DOID:0080978 arthrogryposis multiplex congenita-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617641 LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:closeMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617718 LEXMATCH -MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:closeMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617879 LEXMATCH MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:closeMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617913 LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch DOID:0112193 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 LEXMATCH MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch DOID:0112192 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 LEXMATCH MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch DOID:0112202 developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:308350 LEXMATCH -MONDO:0100105 brain small vessel disease 3 skos:closeMatch DOID:0112315 brain small vessel disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618360 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch DOID:0080947 acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c000629404 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 LEXMATCH +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH MONDO:0100218 arthrogryposis multiplex congenita 5 skos:closeMatch DOID:0080981 arthrogryposis multiplex congenita-5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618947 LEXMATCH -MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 LEXMATCH MONDO:0100223 mitochondrial complex I deficiency, nuclear type skos:closeMatch DOID:0112065 nuclear type mitochondrial complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:252010 LEXMATCH MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch DOID:0112074 nuclear type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 LEXMATCH -MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:closeMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:614080 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch DOID:0111761 46,XX sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 LEXMATCH -MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies LEXMATCH -MONDO:0100338 urinary tract infection skos:closeMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014552 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565561 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 LEXMATCH MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch DOID:0080698 Teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pascual-castroviejo syndrome LEXMATCH MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 LEXMATCH -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:closeMatch DOID:0081121 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619733 LEXMATCH -MONDO:0851095 KINSSHIP syndrome skos:closeMatch DOID:0112383 KINSSHIP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619297 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch DOID:0080679 neuronal intestinal dysplasia type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv index f91f7c8e..d5535d27 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv @@ -2,17 +2,15 @@ subject_id subject_label predicate_id object_id object_label mapping_justificati MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenocarcinoma LEXMATCH MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C92728 Alcohol Related Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol related neurodevelopmental disorder LEXMATCH MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 LEXMATCH MONDO:0000709 Crohn ileitis skos:closeMatch NCIT:C84782 Ileitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileitis LEXMATCH MONDO:0001071 intellectual disability skos:closeMatch NCIT:C84392 Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation LEXMATCH MONDO:0001142 salivary gland disorder skos:closeMatch NCIT:C27662 Non-Neoplastic Salivary Gland Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic salivary gland disorder LEXMATCH MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute esophagitis LEXMATCH -MONDO:0001657 brain cancer skos:closeMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary brain neoplasm LEXMATCH MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm LEXMATCH MONDO:0002037 pleural disorder skos:closeMatch NCIT:C27563 Non-Neoplastic Pleural Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic pleural disorder LEXMATCH MONDO:0002039 cognitive disorder skos:closeMatch NCIT:C34870 Organic Mental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic mental disorder LEXMATCH -MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis LEXMATCH MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis LEXMATCH +MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis LEXMATCH MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma LEXMATCH MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis LEXMATCH MONDO:0002211 B cell deficiency skos:closeMatch NCIT:C27141 Immunoglobulin Heavy Chain Deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deletion LEXMATCH @@ -39,8 +37,8 @@ MONDO:0003781 bronchitis skos:closeMatch NCIT:C26932 Acute Bronchitis semapv:Lex MONDO:0003805 malignant pericardial mesothelioma skos:closeMatch NCIT:C7632 Pericardial Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pericardial mesothelioma LEXMATCH MONDO:0004063 intermediate cell type iris melanoma skos:closeMatch NCIT:C174506 Iris Mixed Cell Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris mixed cell melanoma LEXMATCH MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain ependymoma LEXMATCH -MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements LEXMATCH MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements LEXMATCH +MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements LEXMATCH MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma LEXMATCH MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma LEXMATCH MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma LEXMATCH @@ -61,8 +59,8 @@ MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:Lex MONDO:0005520 rickets skos:closeMatch NCIT:C131447 Nutritional Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nutritional rickets LEXMATCH MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection LEXMATCH MONDO:0005560 brain disorder skos:closeMatch NCIT:C26920 Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label encephalopathy LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma LEXMATCH MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma LEXMATCH +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma LEXMATCH MONDO:0005623 autoimmune thyroid disease skos:closeMatch NCIT:C38766 Lymphocytic Thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic thyroiditis LEXMATCH MONDO:0005631 actinomycosis skos:closeMatch NCIT:C34349 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma LEXMATCH MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum LEXMATCH @@ -71,7 +69,6 @@ MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm I MONDO:0005915 pityriasis versicolor skos:closeMatch NCIT:C112833 Tinea Versicolor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea versicolor LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta LEXMATCH -MONDO:0005965 spinal stenosis skos:closeMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lumbar spinal stenosis LEXMATCH MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warty carcinoma LEXMATCH MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma LEXMATCH MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor LEXMATCH @@ -87,17 +84,14 @@ MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomo MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrotic syndrome with lesion of minimal change glomerulonephritis LEXMATCH MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate LEXMATCH MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C120205 Acampomelic Campomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acampomelic campomelic dysplasia LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 LEXMATCH MONDO:0007342 clubfoot skos:closeMatch NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly LEXMATCH MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm LEXMATCH MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy LEXMATCH MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome LEXMATCH MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis LEXMATCH MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch NCIT:C34711 Fredrickson Type IV Lipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fredrickson type iv lipidemia LEXMATCH MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia LEXMATCH MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome LEXMATCH MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis LEXMATCH MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 LEXMATCH MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia LEXMATCH @@ -126,11 +120,9 @@ MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176622 Gastroint MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NCIT:C168598 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, focal, with speech disorder and with or without mental retardation LEXMATCH MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NCIT:C85076 Spinal Muscular Atrophy of Childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy of childhood LEXMATCH MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NCIT:C156310 Spinal Muscular Atrophy Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy type 2 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis LEXMATCH MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg LEXMATCH MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c LEXMATCH MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma LEXMATCH -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 LEXMATCH MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch NCIT:C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay LEXMATCH MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a LEXMATCH @@ -143,15 +135,14 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch NCI MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type LEXMATCH MONDO:0010590 FG syndrome 1 skos:closeMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 LEXMATCH MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycerolemia LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 LEXMATCH MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 LEXMATCH +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 LEXMATCH MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome LEXMATCH MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis LEXMATCH MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct LEXMATCH MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis LEXMATCH MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, athabascan type LEXMATCH MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch NCIT:C184990 Parkinson Disease 6, Early Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, early onset LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome LEXMATCH MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma LEXMATCH MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lung lymphangioleiomyomatosis LEXMATCH MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 LEXMATCH @@ -160,7 +151,6 @@ MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NCIT:C16859 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 LEXMATCH MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis LEXMATCH MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma LEXMATCH MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis LEXMATCH MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 LEXMATCH @@ -174,22 +164,18 @@ MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma s MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor LEXMATCH MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 LEXMATCH MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch NCIT:C176910 Fanconi Anemia, Complementation Group O semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome LEXMATCH MONDO:0013308 CBL-related disorder skos:closeMatch NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia LEXMATCH MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type LEXMATCH MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 LEXMATCH MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l LEXMATCH MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 LEXMATCH MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 LEXMATCH MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch NCIT:C172639 BAP1 Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bap1 tumor predisposition syndrome LEXMATCH MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch NCIT:C128108 Idiopathic Membranous Glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic membranous glomerulopathy LEXMATCH MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve LEXMATCH MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch NCIT:C183526 Methylmalonic Aciduria and Homocystinuria, cblJ Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblj type LEXMATCH MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch NCIT:C172100 Childhood-Onset Epileptic Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset epileptic encephalopathy LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 LEXMATCH MONDO:0014262 Rienhoff syndrome skos:closeMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 LEXMATCH MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 LEXMATCH MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 LEXMATCH @@ -204,6 +190,7 @@ MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCI MONDO:0014708 ring chromosome 14 skos:closeMatch NCIT:C185638 Ring Chromosome 14 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome LEXMATCH MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome LEXMATCH MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor LEXMATCH +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchiolitis obliterans LEXMATCH MONDO:0015411 facial cleft skos:closeMatch NCIT:C124573 Prosoposchisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prosoposchisis LEXMATCH MONDO:0015434 ring chromosome 18 skos:closeMatch NCIT:C175706 Ring Chromosome 18 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome LEXMATCH MONDO:0015437 ring chromosome 21 skos:closeMatch NCIT:C186278 Ring Chromosome 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome LEXMATCH @@ -215,8 +202,8 @@ MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepati MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder LEXMATCH MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch LEXMATCH MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma LEXMATCH MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma LEXMATCH +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma LEXMATCH MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele LEXMATCH MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome LEXMATCH MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia LEXMATCH @@ -224,9 +211,9 @@ MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hype MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondritis LEXMATCH MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia LEXMATCH MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism LEXMATCH +MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34896 Paratyphoid Fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch NCIT:C45692 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax LEXMATCH MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma LEXMATCH MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia LEXMATCH @@ -242,33 +229,23 @@ MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Ac MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian sex cord tumor with annular tubules LEXMATCH MONDO:0022037 large-cell immunoblastic lymphoma skos:closeMatch NCIT:C3461 Immunoblastic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoblastic lymphoma LEXMATCH MONDO:0022096 pyogenic granuloma skos:closeMatch NCIT:C3480 Lobular Capillary Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lobular capillary hemangioma LEXMATCH -MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia LEXMATCH MONDO:0024249 pityriasis lichenoides skos:closeMatch NCIT:C37871 Pityriasis Lichenoides et Varioliformis Acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides et varioliformis acuta LEXMATCH MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis LEXMATCH MONDO:0024295 skin disease caused by bacterial infection skos:closeMatch NCIT:C157794 Bacterial Skin Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bacterial skin disorder LEXMATCH -MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve LEXMATCH MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder LEXMATCH +MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve LEXMATCH MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma LEXMATCH MONDO:0025419 furunculosis skos:closeMatch NCIT:C99087 Furuncle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label furuncle LEXMATCH MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 LEXMATCH -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay LEXMATCH -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 LEXMATCH -MONDO:0043251 odontoma skos:closeMatch NCIT:C3711 Compound Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label compound odontoma LEXMATCH MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ameloblastic fibro-odontoma LEXMATCH +MONDO:0043251 odontoma skos:closeMatch NCIT:C3711 Compound Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label compound odontoma LEXMATCH MONDO:0043303 hyperacusis skos:closeMatch NCIT:C122579 Phonophobia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phonophobia LEXMATCH MONDO:0043919 radiation pneumonitis skos:closeMatch NCIT:C9436 Radiation Fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiation fibrosis LEXMATCH MONDO:0043959 pseudolymphoma skos:closeMatch NCIT:C97078 Benign Lymphoid Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoid hyperplasia LEXMATCH MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome LEXMATCH MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus LEXMATCH MONDO:0045057 delirium skos:closeMatch NCIT:C34868 Organic Brain Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic brain syndrome LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sertoli cell-only syndrome LEXMATCH MONDO:0100081 sleep disorder skos:closeMatch NCIT:C94836 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia LEXMATCH MONDO:0100185 immune reconstitution inflammatory syndrome skos:closeMatch NCIT:C125712 Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label immune reconstitution inflammatory syndrome associated with kaposi sarcoma LEXMATCH MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency LEXMATCH MONDO:0100308 atactic disorder skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia LEXMATCH -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 LEXMATCH -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv index a4a1bb00..934af96f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -3,3 +3,8 @@ MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to LEXMATCH MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index ed771312..754675a8 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,18 +1,9 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome LEXMATCH MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 LEXMATCH MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 LEXMATCH MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sed and semd LEXMATCH +MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration LEXMATCH MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 LEXMATCH -MONDO:0023076 eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofuji disorder LEXMATCH MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 00f57403..7b23f88a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -1,8 +1,5 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000023 infantile liver failure skos:exactMatch DOID:0080716 infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome LEXMATCH -MONDO:0000087 polymicrogyria skos:exactMatch DOID:0080918 polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome LEXMATCH MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000348 obsolete posterior polar cataract skos:exactMatch DOID:0050537 posterior polar cataract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch DOID:0050612 gallbladder carcinoma in situ semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -10,7 +7,6 @@ MONDO:0000425 X-linked disease skos:exactMatch DOID:0050735 X-linked monogenic d MONDO:0000428 Y-linked disease skos:exactMatch DOID:0050738 Y-linked monogenic disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000595 sexual and gender identity disorders skos:exactMatch DOID:0060043 sexual health disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000638 benign glioma skos:exactMatch DOID:0080829 low grade glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign glioma LEXMATCH MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -18,9 +14,8 @@ MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0 MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080146 childhood B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000991 obsolete left bundle branch block skos:exactMatch DOID:10272 left bundle branch hemiblock semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001324 hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001509 endocrine exophthalmos skos:exactMatch DOID:0081120 Graves ophthalmopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid eye disorder LEXMATCH MONDO:0001578 obsolete hernia of ovary and fallopian tube skos:exactMatch DOID:12735 hernia of ovary and fallopian tube semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001662 obsolete right bundle branch block skos:exactMatch DOID:13209 right bundle branch block semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001679 obsolete crater-like holes of optic disc skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -28,532 +23,271 @@ MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch DOID:14070 vestibula MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002488 intraductal breast neoplasm skos:exactMatch DOID:3013 intraductal breast benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:3117 hepatobiliary benign neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatobiliary tumors LEXMATCH +MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:0080355 hepatobiliary system cancer semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:0080905 central nervous system neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system neuroblastoma LEXMATCH MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003192 rete ovarii neoplasm skos:exactMatch DOID:4895 rete ovarii benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003308 pleural mesothelioma skos:exactMatch DOID:5157 benign pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of pleura LEXMATCH MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003607 neuritis of upper limb skos:exactMatch DOID:572 mononeuritis of upper limb and mononeuritis multiplex semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004649 anaerobic pneumonia skos:exactMatch DOID:873 anaerobic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaerobic pneumonia LEXMATCH MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch DOID:9459 isthmus cancer semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell acute lymphoblastic leukemia LEXMATCH -MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated chondrosarcoma LEXMATCH MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005161 human papilloma virus infection skos:exactMatch DOID:11166 Human papillomavirus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label human papillomavirus infectious disorder LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch DOID:0081085 acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation LEXMATCH MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia without maturation LEXMATCH -MONDO:0005405 childhood onset asthma skos:exactMatch DOID:0080815 childhood-onset asthma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood asthma LEXMATCH MONDO:0005525 T-cell leukemia skos:exactMatch DOID:715 obsolete T-cell lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma LEXMATCH -MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch DOID:0080777 lung sarcomatoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung sarcomatoid carcinoma LEXMATCH MONDO:0006372 pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma LEXMATCH -MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinonasal undifferentiated carcinoma LEXMATCH MONDO:0006515 acute pancreatitis skos:exactMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis LEXMATCH MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym overactive bladder LEXMATCH MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder LEXMATCH MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006728 obsolete discitis skos:exactMatch DOID:10986 discitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aarskog syndrome LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type LEXMATCH MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder LEXMATCH MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 LEXMATCH -MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch DOID:0080606 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 1 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome LEXMATCH MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 LEXMATCH +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome LEXMATCH MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 LEXMATCH -MONDO:0007171 atrial standstill 1 skos:exactMatch DOID:0080662 atrial standstill 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 1 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch DOID:0070358 primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 1 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hardcastle syndrome LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome LEXMATCH MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome LEXMATCH MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome LEXMATCH MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0007299 Sotos syndrome 1 skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 1 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch DOID:0112363 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocostal dysostosis type 5 LEXMATCH +MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome LEXMATCH MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 LEXMATCH MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pretibial dystrophic epidermolysis bullosa LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny LEXMATCH MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny LEXMATCH +MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny LEXMATCH MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperalphalipoproteinemia type 1 LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:exactMatch DOID:0080833 laryngomalacia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital laryngomalacia LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i LEXMATCH +MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder LEXMATCH MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch DOID:0080789 Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 1 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch DOID:0112241 multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trismus-pseudocamptodactyly syndrome LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dutch-kentucky syndrome LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-beals syndrome LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 7 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trismus-pseudocamptodactyly syndrome LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht syndrome LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 LEXMATCH MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1a LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch DOID:0081024 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 1 LEXMATCH -MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with punctate corneal dystrophy LEXMATCH MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spondyloepiphyseal dysplasia tarda LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type LEXMATCH MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otospondylomegaepiphyseal dysplasia, autosomal dominant LEXMATCH -MONDO:0008512 syndactyly type 1 skos:exactMatch DOID:0111816 syndactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 1 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:exactMatch DOID:0111817 syndactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 3 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:exactMatch DOID:0111818 syndactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 4 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:exactMatch DOID:0111819 syndactyly type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 5 LEXMATCH +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type LEXMATCH MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch DOID:0081317 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 1 LEXMATCH -MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0111907 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophilia due to thrombin defect LEXMATCH -MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophilia due to activated protein c resistance LEXMATCH MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 2a LEXMATCH MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 2a LEXMATCH MONDO:0008676 white sponge nevus 1 skos:exactMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 1 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch DOID:0112130 autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 3 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 3 LEXMATCH +MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:exactMatch DOID:0080756 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a LEXMATCH -MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch DOID:0111874 Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sabinas brittle hair syndrome LEXMATCH MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, classic type LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, debre type LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:exactMatch DOID:0111985 immunodeficiency 32B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 32b LEXMATCH -MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch DOID:0080672 fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 1 LEXMATCH -MONDO:0009263 GAPO syndrome skos:exactMatch DOID:0112249 GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome LEXMATCH +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal dysplasia-anemia syndrome LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ghosal hematodiaphyseal syndrome LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal syndrome LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:exactMatch DOID:0112246 glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaric acidemia type 3 LEXMATCH MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutathione synthetase deficiency without type 5-oxoprolinuria LEXMATCH MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 59 and hypoglycemia LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency with skin granulomas LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency LEXMATCH MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency LEXMATCH MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 2 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic veno-occlusive disorder-immunodeficiency syndrome LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functional methionine synthase deficiency type cble LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency LEXMATCH MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome LEXMATCH -MONDO:0009448 iminoglycinuria skos:exactMatch DOID:0112265 iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 1 LEXMATCH MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch DOID:0080791 Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 3 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009720 Keipert syndrome skos:exactMatch DOID:0111842 Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch DOID:0080390 nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finnish congenital nephrosis LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type LEXMATCH +MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH +MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome LEXMATCH MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 LEXMATCH +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy LEXMATCH +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 2 LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b LEXMATCH -MONDO:0010008 sarcosinemia skos:exactMatch DOID:0112307 sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch DOID:0080612 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 7 LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to zap70 deficiency LEXMATCH MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency LEXMATCH MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda LEXMATCH MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch DOID:0112195 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloperipheral dysplasia LEXMATCH -MONDO:0010092 Filippi syndrome skos:exactMatch DOID:0112194 Filippi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filippi syndrome LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch DOID:0112191 tetraamelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tetraamelia-multiple malformations syndrome LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch DOID:0112183 familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroid dyshormonogenesis LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 2a LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 3 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 4 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 5 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 1 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btp1 syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constitutional mismatch repair deficiency syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia/hypoplasia of limbs and pelvis LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of ulna and fibula LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym al awadi-raas-rothschild syndrome LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit LEXMATCH MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency LEXMATCH MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria LEXMATCH MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome type 1 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x LEXMATCH -MONDO:0010201 Winchester syndrome skos:exactMatch DOID:0080696 Winchester syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:exactMatch DOID:0112171 wrinkly skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wrinkly skin syndrome LEXMATCH -MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label de sanctis-cacchione syndrome LEXMATCH -MONDO:0010221 CHIME syndrome skos:exactMatch DOID:0112152 CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome LEXMATCH MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked lissencephaly type 1 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome LEXMATCH MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amme complex LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats-mr LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amme syndrome LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia LEXMATCH +MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome LEXMATCH +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome LEXMATCH +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia LEXMATCH MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch DOID:0112149 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal osseous dysplasia-pigmentary defects syndrome LEXMATCH -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uruguay faciocardiomusculoskeletal syndrome LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immune deficiency LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch DOID:0112128 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:exactMatch DOID:0111999 immunodeficiency 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 61 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia LEXMATCH MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hemoglobin h disorder LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-thalassemia-myelodysplastic syndrome LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hbh disorder LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome LEXMATCH -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome LEXMATCH -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis LEXMATCH -MONDO:0010367 SHOX-related short stature skos:exactMatch DOID:0112120 SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency LEXMATCH +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 33 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency LEXMATCH MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency LEXMATCH MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly LEXMATCH MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 LEXMATCH MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia LEXMATCH -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromosome xp11.22 duplication syndrome LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome LEXMATCH -MONDO:0010441 CK syndrome skos:exactMatch DOID:0111898 CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked dominant chondrodysplasia, chassaing-lacombe type LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 2 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked parkinsonism-spasticity syndrome LEXMATCH +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 LEXMATCH MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome LEXMATCH MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 14 with mandibulofacial dysostosis LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 3 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome LEXMATCH -MONDO:0010498 MEND syndrome skos:exactMatch DOID:0111865 MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome LEXMATCH -MONDO:0010504 immunodeficiency 47 skos:exactMatch DOID:0112002 immunodeficiency 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 47 LEXMATCH MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome LEXMATCH +MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 LEXMATCH MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch DOID:0111861 Meester-Loeys syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder LEXMATCH MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinal muscular atrophy type 2 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spinal muscular atrophy type 2 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked distal arthrogryposis multiplex congenita LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy with arthrogryposis LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy LEXMATCH MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 LEXMATCH -MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0081164 dilated cardiomyopathy 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy type 3b LEXMATCH MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss LEXMATCH MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked LEXMATCH +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss LEXMATCH +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome LEXMATCH +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked LEXMATCH MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch DOID:0111388 X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hypoparathyroidism LEXMATCH -MONDO:0010621 CHILD syndrome skos:exactMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 LEXMATCH MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblx LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx LEXMATCH -MONDO:0010669 syndactyly type 8 skos:exactMatch DOID:0111813 syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz dysplasia LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear skin defects with multiple congenital anomalies LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mls syndrome LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH +MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 LEXMATCH MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch DOID:0080776 partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome LEXMATCH +MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome LEXMATCH -MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda with characteristic facies LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch DOID:0111706 oblique facial clefting 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tessier number type 4 facial cleft LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association LEXMATCH MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 8 LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mmep syndrome LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 8 LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viljoen-smart syndrome LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental verbal dyspraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood apraxia of speech LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability LEXMATCH -MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome LEXMATCH +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 LEXMATCH +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association LEXMATCH MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch DOID:0081102 familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gestational hyperthyroidism LEXMATCH +MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome LEXMATCH MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disorder LEXMATCH MONDO:0011381 dominant beta-thalassemia skos:exactMatch DOID:0080770 autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body beta-thalassemia LEXMATCH MONDO:0011493 Stickler syndrome type 2 skos:exactMatch DOID:0080675 Stickler syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 LEXMATCH MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myopathy and ophthalmoplegia LEXMATCH -MONDO:0011603 GNE myopathy skos:exactMatch DOID:0080718 GNE myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gne myopathy LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 2 LEXMATCH MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 15 with mandibulofacial dysostosis LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0080942 anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 6 LEXMATCH +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 1 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pafah1b1-related lissencephaly LEXMATCH MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmoplantaris striata type 3 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch DOID:0080691 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair LEXMATCH MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch DOID:0081116 benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal-infantile seizures LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with brain and digit anomalies LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 LEXMATCH MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 LEXMATCH -MONDO:0011959 sweet syndrome skos:exactMatch DOID:0080746 Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil immunodeficiency syndrome LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neutrophil immunodeficiency syndrome LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelogenous leukemia, bcr-abl1 positive LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH +MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 LEXMATCH MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis type 2 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch DOID:0080695 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome LEXMATCH +MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd LEXMATCH MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid LEXMATCH +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 LEXMATCH MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 LEXMATCH +MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid LEXMATCH MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 LEXMATCH +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 LEXMATCH +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 LEXMATCH +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency LEXMATCH -MONDO:0012270 Tukel syndrome skos:exactMatch DOID:0081021 Tukel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tukel syndrome LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch DOID:0080926 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 7q11.23 microduplication syndrome LEXMATCH MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency LEXMATCH MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency LEXMATCH +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency LEXMATCH MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 2 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch DOID:0081025 retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 3a LEXMATCH MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 LEXMATCH MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0111942 immunodeficiency 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 25 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:exactMatch DOID:0080597 Kleefstra syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch DOID:0081022 retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal cone dystrophy type 3b LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch DOID:0081023 retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 4 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 LEXMATCH MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile agranulocytosis LEXMATCH -MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome LEXMATCH MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 2 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 4 LEXMATCH +MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome LEXMATCH +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency LEXMATCH MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome LEXMATCH MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:exactMatch DOID:0111989 immunodeficiency 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 35 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type LEXMATCH +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome LEXMATCH MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ane syndrome LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type LEXMATCH +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds LEXMATCH MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 LEXMATCH MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency LEXMATCH +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 LEXMATCH MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmoplantaris striata type 2 LEXMATCH +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency LEXMATCH MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly LEXMATCH MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 3 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch DOID:0070359 primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 2 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch DOID:0070360 primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 3 LEXMATCH MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital hrg deficiency LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency LEXMATCH MONDO:0013209 non-alcoholic fatty liver disease skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 LEXMATCH MONDO:0013229 hot water reflex epilepsy skos:exactMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hot water epilepsy LEXMATCH -MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 2 LEXMATCH MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 2 LEXMATCH MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 3 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:exactMatch DOID:0080804 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 2 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:exactMatch DOID:0080790 Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 2 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:exactMatch DOID:0111944 immunodeficiency 31B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 31b LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:exactMatch DOID:0111996 immunodeficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 51 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:exactMatch DOID:0112235 lissencephaly 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 4 LEXMATCH +MONDO:0013505 spermatogenic failure 9 skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 9 LEXMATCH MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement LEXMATCH MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy LEXMATCH MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:exactMatch DOID:0080805 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 3 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:exactMatch DOID:0111946 immunodeficiency 31C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31c LEXMATCH -MONDO:0013605 brittle cornea syndrome 2 skos:exactMatch DOID:0080729 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome type 2 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocytopenia and mycobacterial infection syndrome LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dendritic cell, monocyte, b and nk lymphoid deficiency LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 21 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monocytopenia with susceptibility to infections LEXMATCH -MONDO:0013624 Rafiq syndrome skos:exactMatch DOID:0081097 Rafiq syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rafiq syndrome LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:exactMatch DOID:0070361 primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 4 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:exactMatch DOID:0070362 primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 5 LEXMATCH -MONDO:0013719 cranioectodermal dysplasia 4 skos:exactMatch DOID:0080806 cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 4 LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder LEXMATCH MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 LEXMATCH +MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder LEXMATCH +MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder LEXMATCH +MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 LEXMATCH MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related bleeding disorder LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related coagulopathy LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch DOID:0111908 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombomodulin-related bleeding disorder LEXMATCH -MONDO:0013795 fibrochondrogenesis 2 skos:exactMatch DOID:0080673 fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 2 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:exactMatch DOID:0081113 Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 2 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH +MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 LEXMATCH +MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 LEXMATCH MONDO:0013885 Malan overgrowth syndrome skos:exactMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 LEXMATCH MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch DOID:0080920 bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 28 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 29, mycobacteriosis LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12b deficiency LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch DOID:0111950 immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 29 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency LEXMATCH +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency LEXMATCH MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial stat1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial stat1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch DOID:0111945 immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a LEXMATCH +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a LEXMATCH MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch DOID:0111892 Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency LEXMATCH +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency LEXMATCH MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 14b LEXMATCH -MONDO:0014046 Cowden syndrome 4 skos:exactMatch DOID:0081000 Cowden syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 4 LEXMATCH -MONDO:0014047 Cowden syndrome 5 skos:exactMatch DOID:0081001 Cowden syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 5 LEXMATCH -MONDO:0014048 Cowden syndrome 6 skos:exactMatch DOID:0081002 Cowden syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 6 LEXMATCH MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 5 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch DOID:0081111 osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerotic metaphyseal dysplasia LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency LEXMATCH MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to card11 deficiency LEXMATCH MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a LEXMATCH +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency LEXMATCH MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 2 LEXMATCH MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome LEXMATCH MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps45 deficiency LEXMATCH +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome LEXMATCH MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies LEXMATCH MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 94 LEXMATCH MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 LEXMATCH @@ -561,581 +295,178 @@ MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency LEXMATCH MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome LEXMATCH MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alacrima, achalasia, and mental retardation syndrome LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 14 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch DOID:0111987 immunodeficiency 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 13 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch DOID:0111715 Schaaf-Yang syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schaaf-yang syndrome LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:exactMatch DOID:0111882 Diamond-Blackfan anemia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 12 LEXMATCH MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch DOID:0111959 immunodeficiency 15B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 15b LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma LEXMATCH +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 LEXMATCH MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:exactMatch DOID:0080759 Fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 3 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3-gamma deficiency LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 17, cd3 gamma deficient LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0111973 immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 17 LEXMATCH +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 LEXMATCH +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0060018 CD3gamma deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cd3gamma deficiency LEXMATCH MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0060017 CD3epsilon deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0111971 immunodeficiency 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 18 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:exactMatch DOID:0111972 immunodeficiency 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 19 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd16 deficiency LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch DOID:0111941 immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 20 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosch-boonstra-schaaf optic atrophy syndrome LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering LEXMATCH -MONDO:0014329 atrial standstill 2 skos:exactMatch DOID:0080663 atrial standstill 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 2 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency LEXMATCH +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency LEXMATCH +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency LEXMATCH MONDO:0014346 white sponge nevus 2 skos:exactMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 2 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:exactMatch DOID:0111953 immunodeficiency 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 23 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch DOID:0111802 syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym colobomatous microphthalmia-rhizomelic dysplasia syndrome LEXMATCH -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch DOID:0112339 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency LEXMATCH +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency LEXMATCH MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:exactMatch DOID:0111889 Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 13 LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency LEXMATCH MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111956 immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial ifngammar1 deficiency LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:exactMatch DOID:0111949 immunodeficiency 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 36 LEXMATCH +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency LEXMATCH MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency LEXMATCH MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency LEXMATCH -MONDO:0014491 immunodeficiency 37 skos:exactMatch DOID:0111939 immunodeficiency 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 37 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete isg15 deficiency LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch DOID:0111934 immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 38 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome LEXMATCH +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency LEXMATCH MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar-facial-dental syndrome LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebellar-facial-dental syndrome LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebellofaciodental syndrome LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome LEXMATCH -MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch DOID:0112231 lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 7 with cerebellar hypoplasia LEXMATCH -MONDO:0014597 immunodeficiency 39 skos:exactMatch DOID:0111969 immunodeficiency 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 39 LEXMATCH +MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome LEXMATCH MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome LEXMATCH MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copa syndrome LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch DOID:0080411 familial adenomatous polyposis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis type 3 LEXMATCH +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome LEXMATCH MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 LEXMATCH MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:exactMatch DOID:0080913 cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 3 LEXMATCH MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency LEXMATCH MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation LEXMATCH MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch DOID:0111975 immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 44 LEXMATCH -MONDO:0014727 immunodeficiency 45 skos:exactMatch DOID:0111994 immunodeficiency 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 45 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency LEXMATCH +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation LEXMATCH MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 LEXMATCH -MONDO:0014802 Cowden syndrome 7 skos:exactMatch DOID:0081003 Cowden syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 7 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:exactMatch DOID:0112368 Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 5 LEXMATCH +MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency LEXMATCH +MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency LEXMATCH MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:exactMatch DOID:0081011 Bardet-Biedl syndrome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 22 LEXMATCH -MONDO:0014951 Sotos syndrome 3 skos:exactMatch DOID:0112104 Sotos syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 3 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch DOID:0081008 intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gnb5-related intellectual disability-cardiac arrhythmia syndrome LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch DOID:0081008 intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z LEXMATCH -MONDO:0014981 immunodeficiency 49 skos:exactMatch DOID:0111979 immunodeficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 49 LEXMATCH -MONDO:0014992 lissencephaly 8 skos:exactMatch DOID:0112233 lissencephaly 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 8 LEXMATCH MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, type ij LEXMATCH -MONDO:0015021 hypotonia, ataxia, and delayed development syndrome skos:exactMatch DOID:0081176 hypotonia, ataxia, and delayed development syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia, ataxia, and delayed development syndrome LEXMATCH -MONDO:0015131 combined immunodeficiency skos:exactMatch DOID:0111962 combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency LEXMATCH -MONDO:0015146 classic lissencephaly skos:exactMatch DOID:0112237 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:exactMatch DOID:0112232 lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita LEXMATCH -MONDO:0015204 microlissencephaly skos:exactMatch DOID:0112234 microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch DOID:0081075 Marsili syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insensitivity to pain LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch DOID:0080895 rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma LEXMATCH +MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 LEXMATCH MONDO:0015408 diffuse lymphatic malformation skos:exactMatch DOID:0081031 generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly LEXMATCH -MONDO:0015588 limbic encephalitis skos:exactMatch DOID:0080741 limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type LEXMATCH MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0112312 male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia LEXMATCH +MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type LEXMATCH +MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to round-headed spermatozoa LEXMATCH +MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to globozoospermia LEXMATCH +MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym male infertility due to globozoospermia LEXMATCH MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma LEXMATCH -MONDO:0015790 central diabetes insipidus skos:exactMatch DOID:0081055 central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus LEXMATCH -MONDO:0016052 atypical autism skos:exactMatch DOID:0060042 atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch DOID:0080921 bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch DOID:0112322 pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:exactMatch DOID:0080771 beta-thalassemia major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia major LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:exactMatch DOID:0080772 beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia intermedia LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch DOID:0080724 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kenny-caffey syndrome LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:exactMatch DOID:0081127 mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia LEXMATCH -MONDO:0016612 X-linked cerebellar ataxia skos:exactMatch DOID:0111828 X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebellar ataxia LEXMATCH MONDO:0016642 meningioma skos:exactMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:exactMatch DOID:0081044 frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:exactMatch DOID:4857 diffuse astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse astrocytoma LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch DOID:7154 anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligodendroglioma LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:exactMatch DOID:5889 anaplastic ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ependymoma LEXMATCH -MONDO:0016705 angiocentric glioma skos:exactMatch DOID:0081261 angiocentric glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiocentric glioma LEXMATCH MONDO:0016715 ependymoblastoma skos:exactMatch DOID:0081286 embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH -MONDO:0016723 pineocytoma skos:exactMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineocytoma LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:exactMatch DOID:0081251 papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary tumor of the pineal region LEXMATCH MONDO:0016727 extraventricular neurocytoma skos:exactMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:exactMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor LEXMATCH MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch DOID:0112328 pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch DOID:0112295 spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch DOID:0111822 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch DOID:0080919 unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral focal polymicrogyria LEXMATCH MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:exactMatch DOID:3125 multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to type 10p11.21p12.31 microdeletion LEXMATCH -MONDO:0017288 DICER1 syndrome skos:exactMatch DOID:0081063 DICER1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicer1 syndrome LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:exactMatch DOID:0080779 plasmablastic lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmablastic lymphoma LEXMATCH +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system LEXMATCH MONDO:0017607 caudal regression sequence skos:exactMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch DOID:0112317 Schindler disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch DOID:0080929 variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080780 acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia LEXMATCH MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with mutated cebpa LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interferon gamma receptor type 2 deficiency LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch DOID:0111995 immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor type 2 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial ifngammar1 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial interferon gamma receptor type 1 deficiency LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch DOID:0080932 primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch DOID:0080699 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrwt amyloidosis LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch DOID:0080937 wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis LEXMATCH -MONDO:0018053 trichothiodystrophy skos:exactMatch DOID:0111866 trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy LEXMATCH MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch DOID:0112374 muscular dystrophy-dystroglycanopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy-dystroglycanopathy LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch DOID:0111936 immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation LEXMATCH MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gcgr-related hyperglucagonemia LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch DOID:0112306 Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder LEXMATCH MONDO:0018589 AApoAIV amyloidosis skos:exactMatch DOID:0080927 apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta2-microglobulinic amyloidosis LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis LEXMATCH MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis LEXMATCH MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch DOID:0081126 DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens LEXMATCH MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch DOID:0080751 keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans LEXMATCH MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch DOID:0081105 keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata LEXMATCH MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz microphthalmia LEXMATCH +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder LEXMATCH MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome LEXMATCH +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder LEXMATCH MONDO:0018948 multiminicore myopathy skos:exactMatch DOID:0080991 multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:exactMatch DOID:0080852 paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus LEXMATCH MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia LEXMATCH -MONDO:0019127 polymyositis skos:exactMatch DOID:0080745 polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein s deficiency LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:exactMatch DOID:0112259 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia LEXMATCH -MONDO:0019165 central precocious puberty skos:exactMatch DOID:0112308 central precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central precocious puberty LEXMATCH MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 3 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 3 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch DOID:0112320 Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 3 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:exactMatch DOID:0080850 pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:exactMatch DOID:0080744 antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch DOID:6785 desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor LEXMATCH MONDO:0019438 AL amyloidosis skos:exactMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis LEXMATCH -MONDO:0019439 AA amyloidosis skos:exactMatch DOID:0080936 serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary amyloidosis LEXMATCH -MONDO:0019439 AA amyloidosis skos:exactMatch DOID:0080936 serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aa amyloidosis LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch DOID:0080928 dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dialysis-related amyloidosis LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:exactMatch DOID:0080795 acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ cd56+ hematodermic neoplasm/tumor LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ natural killer cell leukemia LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic natural killer leukemia/lymphoma LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic nk-cell lymphoma LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch DOID:0080797 nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal type extranodal nk/t-cell lymphoma LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch DOID:0081049 hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:exactMatch DOID:0080915 histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH +MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a LEXMATCH MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i LEXMATCH +MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b LEXMATCH MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii LEXMATCH -MONDO:0019624 acquired angioedema skos:exactMatch DOID:0080941 acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch DOID:0112284 spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone resistance LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch DOID:0112260 Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leydig cell hypoplasia due to partial lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial lh receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial luteinizing hormone resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch DOID:0112261 Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance LEXMATCH +MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b LEXMATCH MONDO:0019976 dementia pugilistica skos:exactMatch DOID:0081291 chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy LEXMATCH -MONDO:0020068 postinfectious encephalitis skos:exactMatch DOID:10993 postinfectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious encephalitis LEXMATCH MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy LEXMATCH MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with maturation LEXMATCH MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch DOID:0080924 bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria LEXMATCH MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:exactMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 93 LEXMATCH MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 1 LEXMATCH MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:exactMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch DOID:0081078 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 LEXMATCH MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b LEXMATCH MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch DOID:0080670 Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 1 LEXMATCH MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch DOID:0081297 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 1 LEXMATCH -MONDO:0020849 immunodeficiency 57 skos:exactMatch DOID:0111952 immunodeficiency 57 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 57 LEXMATCH -MONDO:0020851 spermatogenic failure 30 skos:exactMatch DOID:0111913 spermatogenic failure 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 30 LEXMATCH -MONDO:0020852 spermatogenic failure 31 skos:exactMatch DOID:0111922 spermatogenic failure 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 31 LEXMATCH -MONDO:0020855 spermatogenic failure 32 skos:exactMatch DOID:0111925 spermatogenic failure 32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 32 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome LEXMATCH MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch DOID:0081293 salivary gland mucoepidermoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucoepidermoid carcinoma LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch DOID:0080775 complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete androgen insensitivity syndrome LEXMATCH -MONDO:0021060 RASopathy skos:exactMatch DOID:0080690 RASopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasopathy LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:exactMatch DOID:0080803 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 1 LEXMATCH -MONDO:0021115 luminal B breast carcinoma skos:exactMatch DOID:0080674 luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luminal b breast carcinoma LEXMATCH -MONDO:0021115 luminal B breast carcinoma skos:exactMatch DOID:0080674 luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym luminal b breast carcinoma LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021232 pineal body neoplasm skos:exactMatch DOID:0081248 pineocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinealoma LEXMATCH -MONDO:0021441 benign neoplasm of exocrine pancreas skos:exactMatch DOID:0080781 benign exocrine pancreas neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign exocrine pancreas neoplasm LEXMATCH -MONDO:0021553 transverse myelitis skos:exactMatch DOID:0080743 transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transverse myelitis LEXMATCH -MONDO:0021637 low grade glioma skos:exactMatch DOID:0080829 low grade glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low grade glioma LEXMATCH MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021915 arakawa syndrome 2 skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type LEXMATCH -MONDO:0021915 arakawa syndrome 2 skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type LEXMATCH -MONDO:0022519 autoimmune myocarditis skos:exactMatch DOID:0080767 autoimmune myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune myocarditis LEXMATCH -MONDO:0022742 occupational asthma skos:exactMatch DOID:0080820 occupational asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occupational asthma LEXMATCH -MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile astrocytoma LEXMATCH -MONDO:0022963 desmoplastic infantile astrocytoma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile astrocytoma LEXMATCH -MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile ganglioglioma LEXMATCH -MONDO:0022965 desmoplastic infantile ganglioglioma skos:exactMatch DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma LEXMATCH -MONDO:0022993 dipsogenic diabetes insipidus skos:exactMatch DOID:0081058 dipsogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dipsogenic diabetes insipidus LEXMATCH -MONDO:0023227 gestational diabetes insipidus skos:exactMatch DOID:0081057 gestational diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational diabetes insipidus LEXMATCH -MONDO:0023664 spermatogenic failure 54 skos:exactMatch DOID:0112335 spermatogenic failure 54 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 54 LEXMATCH -MONDO:0023670 Bardet-Biedl syndrome 20 skos:exactMatch DOID:0081009 Bardet-Biedl syndrome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 20 LEXMATCH MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 3 LEXMATCH -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch DOID:0080883 vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d-dependent rickets LEXMATCH +MONDO:0024286 benign blood vessel neoplasm skos:exactMatch DOID:60006 benign vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch DOID:0080370 ovarian sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch DOID:0080757 Fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 1 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 1 LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:exactMatch DOID:0111808 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 1 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:exactMatch DOID:0080717 infantile liver failure syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 1 LEXMATCH MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy LEXMATCH -MONDO:0025699 Coffin-Siris syndrome 12 skos:exactMatch DOID:0112370 Coffin-Siris syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 12 LEXMATCH -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:exactMatch DOID:0111845 Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mullegama-klein-martinez syndrome LEXMATCH -MONDO:0026724 Paganini-Miozzo syndrome skos:exactMatch DOID:0111843 Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paganini-miozzo syndrome LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:exactMatch DOID:0111841 Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shukla-vernon syndrome LEXMATCH -MONDO:0026730 Basilicata-Akhtar syndrome skos:exactMatch DOID:0111838 Basilicata-Akhtar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basilicata-akhtar syndrome LEXMATCH -MONDO:0026777 VEXAS syndrome skos:exactMatch DOID:0080828 VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome LEXMATCH MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency LEXMATCH MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 LEXMATCH MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 LEXMATCH MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 67 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:exactMatch DOID:0111915 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 33 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:exactMatch DOID:0111911 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 34 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:exactMatch DOID:0112117 combined oxidative phosphorylation deficiency 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 40 LEXMATCH -MONDO:0030007 combined oxidative phosphorylation deficiency 41 skos:exactMatch DOID:0112119 combined oxidative phosphorylation deficiency 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 41 LEXMATCH -MONDO:0030008 combined oxidative phosphorylation deficiency 42 skos:exactMatch DOID:0112118 combined oxidative phosphorylation deficiency 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 42 LEXMATCH MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch DOID:0080950 alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-mental retardation syndrome type 4 LEXMATCH -MONDO:0030013 immunodeficiency 66 skos:exactMatch DOID:0111998 immunodeficiency 66 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 66 LEXMATCH -MONDO:0030017 combined oxidative phosphorylation deficiency 43 skos:exactMatch DOID:0112116 combined oxidative phosphorylation deficiency 43 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 43 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:exactMatch DOID:0080963 anauxetic dysplasia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia type 3 LEXMATCH -MONDO:0030026 retinal dystrophy with leukodystrophy skos:exactMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with leukodystrophy LEXMATCH -MONDO:0030031 lissencephaly 10 skos:exactMatch DOID:0112229 lissencephaly 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 10 LEXMATCH -MONDO:0030049 46,xx sex reversal 5 skos:exactMatch DOID:0080943 46,XX sex reversal 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 5 LEXMATCH MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 86 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:exactMatch DOID:0080761 Fanconi renotubular syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 5 LEXMATCH MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 LEXMATCH -MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of corpus callosum, cardiac, ocular, and genital syndrome LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:exactMatch DOID:0080792 Treacher Collins syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 4 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:exactMatch DOID:0112146 retinitis pigmentosa 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 89 LEXMATCH MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia with corneal dystrophy LEXMATCH MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 2 LEXMATCH -MONDO:0030307 spermatogenic failure 55 skos:exactMatch DOID:0112337 spermatogenic failure 55 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 55 LEXMATCH -MONDO:0030430 spermatogenic failure 56 skos:exactMatch DOID:0112336 spermatogenic failure 56 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 56 LEXMATCH -MONDO:0030439 spermatogenic failure 57 skos:exactMatch DOID:0112338 spermatogenic failure 57 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 57 LEXMATCH -MONDO:0030463 spermatogenic failure 58 skos:exactMatch DOID:0112352 spermatogenic failure 58 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 58 LEXMATCH -MONDO:0030492 spermatogenic failure 59 skos:exactMatch DOID:0112357 spermatogenic failure 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 59 LEXMATCH -MONDO:0030493 spermatogenic failure 60 skos:exactMatch DOID:0112355 spermatogenic failure 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 60 LEXMATCH -MONDO:0030507 spermatogenic failure 61 skos:exactMatch DOID:0112350 spermatogenic failure 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 61 LEXMATCH -MONDO:0030508 spermatogenic failure 62 skos:exactMatch DOID:0112351 spermatogenic failure 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 62 LEXMATCH -MONDO:0030515 spermatogenic failure 63 skos:exactMatch DOID:0112356 spermatogenic failure 63 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 63 LEXMATCH -MONDO:0030522 spermatogenic failure 64 skos:exactMatch DOID:0112353 spermatogenic failure 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 64 LEXMATCH -MONDO:0030531 spermatogenic failure 65 skos:exactMatch DOID:0112354 spermatogenic failure 65 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 65 LEXMATCH -MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch DOID:0081073 Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome LEXMATCH -MONDO:0030674 Teebi hypertelorism syndrome 2 skos:exactMatch DOID:0081074 Teebi hypertelorism syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 2 LEXMATCH MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 4 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:exactMatch DOID:0112175 spermatogenic failure 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 47 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:exactMatch DOID:0112176 spermatogenic failure 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 48 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:exactMatch DOID:0112223 developmental and epileptic encephalopathy 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 89 LEXMATCH MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:exactMatch DOID:0112271 spermatogenic failure 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 49 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:exactMatch DOID:0080952 AMED syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome LEXMATCH -MONDO:0030926 spermatogenic failure 51 skos:exactMatch DOID:0112273 spermatogenic failure 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 51 LEXMATCH -MONDO:0030938 spermatogenic failure 52 skos:exactMatch DOID:0112270 spermatogenic failure 52 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 52 LEXMATCH -MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH -MONDO:0030981 immunodeficiency 79 skos:exactMatch DOID:0112277 immunodeficiency 79 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 79 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 LEXMATCH +MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH -MONDO:0030989 spermatogenic failure 53 skos:exactMatch DOID:0112279 spermatogenic failure 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 53 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome LEXMATCH +MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 LEXMATCH MONDO:0031043 lymphatic malformation 12 skos:exactMatch DOID:0081030 central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly LEXMATCH -MONDO:0031219 mismatch repair cancer syndrome skos:exactMatch DOID:0112182 mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mismatch repair cancer syndrome LEXMATCH MONDO:0031421 Olmsted syndrome skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome LEXMATCH -MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:exactMatch DOID:0112140 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 83 LEXMATCH MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:exactMatch DOID:0111960 immunodeficiency 15A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 15a LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:exactMatch DOID:0112141 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 84 LEXMATCH MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia LEXMATCH MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 69 LEXMATCH MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 70 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:exactMatch DOID:0111896 Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 18 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:exactMatch DOID:0111886 Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 19 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:exactMatch DOID:0111891 Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 20 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:exactMatch DOID:0112228 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 9 with complex brainstem malformation LEXMATCH MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 71 LEXMATCH -MONDO:0032686 spermatogenic failure 35 skos:exactMatch DOID:0111914 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 35 LEXMATCH MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:exactMatch DOID:0112142 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 85 LEXMATCH -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly, growth deficiency, seizures, and brain malformations LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:exactMatch DOID:0112367 Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 8 LEXMATCH MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 72 LEXMATCH -MONDO:0032723 immunodeficiency 60 skos:exactMatch DOID:0111954 immunodeficiency 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 60 LEXMATCH MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 74 LEXMATCH -MONDO:0032739 spermatogenic failure 36 skos:exactMatch DOID:0111921 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 36 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:exactMatch DOID:0111927 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 37 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:exactMatch DOID:0111919 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 38 LEXMATCH MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 75 LEXMATCH -MONDO:0032763 immunodeficiency 62 skos:exactMatch DOID:0111991 immunodeficiency 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 62 LEXMATCH MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 LEXMATCH MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH -MONDO:0032783 aortic valve disease 3 skos:exactMatch DOID:0080977 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic valve disorder type 3 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:exactMatch DOID:0112169 Noonan syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:exactMatch DOID:0112371 Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 10 LEXMATCH -MONDO:0032794 leber congenital amaurosis 19 skos:exactMatch DOID:0081169 Leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis type 19 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch DOID:0080766 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis et progressiva type 6 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:exactMatch DOID:0111980 immunodeficiency 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 64 LEXMATCH MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 LEXMATCH MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome LEXMATCH MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome LEXMATCH +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome LEXMATCH +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency LEXMATCH MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:exactMatch DOID:0112143 retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 86 LEXMATCH -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:exactMatch DOID:0080945 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal obesity-metabolic syndrome type 4 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:exactMatch DOID:0112170 Noonan syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 LEXMATCH MONDO:0032842 Siddiqi syndrome skos:exactMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siddiqi syndrome LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:exactMatch DOID:0111926 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 39 LEXMATCH -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:exactMatch DOID:0111978 immunodeficiency 65 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections LEXMATCH MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:exactMatch DOID:0111918 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 40 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:exactMatch DOID:0111912 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 41 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch DOID:0112144 retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement LEXMATCH MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 LEXMATCH MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:exactMatch DOID:0111923 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 42 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:exactMatch DOID:0111917 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 43 LEXMATCH MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:exactMatch DOID:0112372 Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 11 LEXMATCH MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 LEXMATCH MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandestig-stefanova syndrome LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:exactMatch DOID:0112145 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 88 LEXMATCH -MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:exactMatch DOID:0112113 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 45 LEXMATCH -MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:exactMatch DOID:0112115 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 46 LEXMATCH -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:exactMatch DOID:0112114 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 47 LEXMATCH -MONDO:0033541 immunodeficiency 69 skos:exactMatch DOID:0112006 immunodeficiency 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 69 LEXMATCH -MONDO:0033542 immunodeficiency 70 skos:exactMatch DOID:0112005 immunodeficiency 70 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 70 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:exactMatch DOID:0080840 optic atrophy 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy type 12 LEXMATCH MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH -MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 73b with defective neutrophil chemotaxis and lymphopenia LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 73c with defective neutrophil chemotaxis and hypogammaglobulinemia LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:exactMatch DOID:0112147 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 90 LEXMATCH -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:exactMatch DOID:0112112 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 48 LEXMATCH -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:exactMatch DOID:0112110 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 49 LEXMATCH -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:exactMatch DOID:0112111 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 50 LEXMATCH -MONDO:0033620 myofibrillar myopathy 10 skos:exactMatch DOID:0112108 myofibrillar myopathy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy type 10 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:exactMatch DOID:0112109 spermatogenic failure 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 44 LEXMATCH -MONDO:0033631 combined oxidative phosphorylation deficiency 51 skos:exactMatch DOID:0112137 combined oxidative phosphorylation deficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 51 LEXMATCH -MONDO:0033643 inflammatory bowel disease 30 skos:exactMatch DOID:0112154 inflammatory bowel disease 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 30 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:exactMatch DOID:0112161 Noonan syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:exactMatch DOID:0112163 spermatogenic failure 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 45 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:exactMatch DOID:0112164 spermatogenic failure 46 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 46 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch DOID:0111952 immunodeficiency 57 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune dysregulation-inflammatory bowel disorder-arthritis-recurrent infections-lymphopenia syndrome LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch DOID:0080892 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma LEXMATCH MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 LEXMATCH -MONDO:0034127 IgA pemphigus skos:exactMatch DOID:0080851 IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch DOID:0080976 acute myeloid leukemia with BCR-ABL1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with bcr-abl1 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch DOID:0112311 male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to acephalic spermatozoa LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); etv6-runx1 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hyperdiploidy LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hypodiploidy LEXMATCH -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycosylphosphatidylinositol biosynthesis defect type 16 LEXMATCH -MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch DOID:0111947 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency LEXMATCH -MONDO:0043275 TORCH syndrome skos:exactMatch DOID:0080835 TORCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torch syndrome LEXMATCH -MONDO:0044210 thalassemia minor skos:exactMatch DOID:0080774 thalassemia minor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalassemia minor LEXMATCH +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:exactMatch DOID:0081010 Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 21 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:exactMatch DOID:0111893 Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 16 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:exactMatch DOID:0111880 Diamond-Blackfan anemia 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 17 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature, hearing loss, retinitis pigmentosa, and distinctive facies LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch DOID:0111983 immunodeficiency 52 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lat deficiency LEXMATCH MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive complex spg due to kennedy pathway dysfunction LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch DOID:0112349 hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction LEXMATCH -MONDO:0044923 acute myeloid leukemia with mutated NPM1 skos:exactMatch DOID:0081089 acute myeloid leukemia with mutated NPM1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with mutated npm1 LEXMATCH -MONDO:0045055 glycogen-rich carcinoma skos:exactMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen-rich carcinoma LEXMATCH -MONDO:0054561 anauxetic dysplasia 2 skos:exactMatch DOID:0080962 anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia type 2 LEXMATCH -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 LEXMATCH MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types LEXMATCH MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 5, multiple types LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH -MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH -MONDO:0054696 immunodeficiency 53 skos:exactMatch DOID:0111992 immunodeficiency 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 53 LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch DOID:0111958 immunodeficiency 11B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis LEXMATCH -MONDO:0054728 spermatogenic failure 24 skos:exactMatch DOID:0111929 spermatogenic failure 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 24 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:exactMatch DOID:0111920 spermatogenic failure 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 25 LEXMATCH -MONDO:0054730 spermatogenic failure 26 skos:exactMatch DOID:0111924 spermatogenic failure 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 26 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:exactMatch DOID:0111928 spermatogenic failure 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 27 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:exactMatch DOID:0111916 spermatogenic failure 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 28 LEXMATCH -MONDO:0054733 spermatogenic failure 29 skos:exactMatch DOID:0111930 spermatogenic failure 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 29 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:exactMatch DOID:0080689 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 3 LEXMATCH +MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch DOID:0081320 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 4 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:exactMatch DOID:0112369 Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 7 LEXMATCH -MONDO:0054849 inflammatory bowel disease 29 skos:exactMatch DOID:0112155 inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 29 LEXMATCH MONDO:0056804 benign neoplasm of peripheral nervous system skos:exactMatch DOID:0080320 peripheral nervous system benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0060455 X-linked congenital hemolytic anemia skos:exactMatch DOID:0111846 X-linked congenital hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked congenital hemolytic anemia LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:exactMatch DOID:0112276 neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with involuntary movements LEXMATCH -MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay LEXMATCH +MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH -MONDO:0060650 Leber congenital amaurosis with early-onset deafness skos:exactMatch DOID:0112240 Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis with early-onset deafness LEXMATCH MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:exactMatch DOID:0112193 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia syndrome type 2 LEXMATCH MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:exactMatch DOID:0112192 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia syndrome type 1 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch DOID:0112202 developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy LEXMATCH -MONDO:0100063 Pericytoma with t(7;12) skos:exactMatch DOID:0080896 pericytoma with t(7;12) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pericytoma with t(7;12) LEXMATCH -MONDO:0100105 brain small vessel disease 3 skos:exactMatch DOID:0112315 brain small vessel disease 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain small vessel disorder type 3 LEXMATCH -MONDO:0100112 acyl-CoA binding domain containing protein 5 deficiency skos:exactMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acbd5 deficiency LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:exactMatch DOID:0080947 acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis LEXMATCH -MONDO:0100153 tubulinopathy skos:exactMatch DOID:0112227 tubulinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulinopathy LEXMATCH -MONDO:0100160 alcoholic ketoacidosis skos:exactMatch DOID:0080949 alcoholic ketoacidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic ketoacidosis LEXMATCH -MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch DOID:0080958 primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency LEXMATCH -MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hypoalphalipoproteinemia LEXMATCH -MONDO:0100222 A20 haploinsufficiency skos:exactMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym a20 haploinsufficiency LEXMATCH -MONDO:0100233 long COVID-19 skos:exactMatch DOID:0080848 long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-acute sequelae of sars-cov-2 infection LEXMATCH -MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch DOID:0111761 46,XX sex reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 LEXMATCH +MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques LEXMATCH MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma LEXMATCH -MONDO:0100338 urinary tract infection skos:exactMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:exactMatch DOID:0111218 Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia type 1 LEXMATCH +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch DOID:0081073 Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch DOID:0080698 Teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 1 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia LEXMATCH -MONDO:0850092 post-cardiac arrest syndrome skos:exactMatch DOID:0070306 post-cardiac arrest syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-cardiac arrest syndrome LEXMATCH -MONDO:0850093 absence epilepsy skos:exactMatch DOID:0070309 absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence epilepsy LEXMATCH -MONDO:0850101 spitzoid melanoma skos:exactMatch DOID:0070326 spitzoid melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spitzoid melanoma LEXMATCH -MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch DOID:0070327 melanoma in congenital melanocytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma in congenital melanocytic nevus LEXMATCH -MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch DOID:0070333 breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma LEXMATCH -MONDO:0850125 malignant adenoma skos:exactMatch DOID:0080364 malignant adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant adenoma LEXMATCH -MONDO:0850128 epididymis disease skos:exactMatch DOID:0080373 epididymis disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epididymis disorder LEXMATCH -MONDO:0850129 gastroesophageal cancer skos:exactMatch DOID:0080374 gastroesophageal cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroesophageal cancer LEXMATCH -MONDO:0850130 gastroesophageal adenocarcinoma skos:exactMatch DOID:0080375 gastroesophageal adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroesophageal adenocarcinoma LEXMATCH -MONDO:0850149 nephroma skos:exactMatch DOID:0080615 nephroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephroma LEXMATCH -MONDO:0850151 lymph node carcinoma skos:exactMatch DOID:0080618 lymph node carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymph node carcinoma LEXMATCH -MONDO:0850152 auditory system benign neoplasm skos:exactMatch DOID:0080619 auditory system benign neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auditory system benign neoplasm LEXMATCH -MONDO:0850154 tongue carcinoma skos:exactMatch DOID:0080641 tongue carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma LEXMATCH -MONDO:0850156 B-lymphoblastic leukemia/lymphoma MLL rearranged skos:exactMatch DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma mll rearranged LEXMATCH -MONDO:0850157 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 skos:exactMatch DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with etv6-runx1 LEXMATCH -MONDO:0850160 B-lymphoblastic leukemia/lymphoma with IL3-IGH skos:exactMatch DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with il3-igh LEXMATCH -MONDO:0850161 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like skos:exactMatch DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma, bcr-abl1–like LEXMATCH -MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 skos:exactMatch DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with iamp21 LEXMATCH -MONDO:0850199 NK cell deficiency skos:exactMatch DOID:0080709 NK cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nk cell deficiency LEXMATCH -MONDO:0850200 T cell and NK cell immunodeficiency skos:exactMatch DOID:0080710 T cell and NK cell immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t cell and nk cell immunodeficiency LEXMATCH -MONDO:0850201 hereditary alpha tryptasemia syndrome skos:exactMatch DOID:0080714 hereditary alpha tryptasemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary alpha tryptasemia syndrome LEXMATCH -MONDO:0850223 Libman-Sacks endocarditis skos:exactMatch DOID:0080740 Libman-Sacks endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label libman-sacks endocarditis LEXMATCH -MONDO:0850273 salivary gland mucinous adenocarcinoma skos:exactMatch DOID:0080800 salivary gland mucinous adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucinous adenocarcinoma LEXMATCH -MONDO:0850281 mammary analogue secretory carcinoma skos:exactMatch DOID:0080808 mammary analogue secretory carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mammary analogue secretory carcinoma LEXMATCH -MONDO:0850295 acquired laryngomalacia skos:exactMatch DOID:0080834 acquired laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired laryngomalacia LEXMATCH -MONDO:0850338 spinal ependymoma, MYCN-amplified skos:exactMatch DOID:0080888 spinal ependymoma, MYCN-amplified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal ependymoma, mycn-amplified LEXMATCH -MONDO:0850345 lung pleomorphic carcinoma skos:exactMatch DOID:0080899 lung pleomorphic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung pleomorphic carcinoma LEXMATCH -MONDO:0850347 bladder sarcomatoid transitional cell carcinoma skos:exactMatch DOID:0080901 bladder sarcomatoid transitional cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder sarcomatoid transitional cell carcinoma LEXMATCH -MONDO:0850348 bladder small cell carcinoma skos:exactMatch DOID:0080902 bladder small cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder small cell carcinoma LEXMATCH -MONDO:0850371 nonobstructive coronary artery disease skos:exactMatch DOID:0080938 nonobstructive coronary artery disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nonobstructive coronary artery disorder LEXMATCH -MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered skos:exactMatch DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered LEXMATCH -MONDO:0850426 high-grade B-cell lymphoma double-hit/triple-hit skos:exactMatch DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade b-cell lymphoma double-hit/triple-hit LEXMATCH -MONDO:0850445 benign peritoneal solitary fibrous tumor skos:exactMatch DOID:0081026 benign peritoneal solitary fibrous tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign peritoneal solitary fibrous tumor LEXMATCH -MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma-delta t-cell lymphoma LEXMATCH -MONDO:0850461 neurobehavioral disorder with prenatal alcohol exposure skos:exactMatch DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurobehavioral disorder with prenatal alcohol exposure LEXMATCH -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch DOID:0081121 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities LEXMATCH -MONDO:0850519 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia skos:exactMatch DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia LEXMATCH -MONDO:0850812 dendritic cell deficiency skos:exactMatch DOID:0111963 dendritic cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell deficiency LEXMATCH -MONDO:0851095 KINSSHIP syndrome skos:exactMatch DOID:0112383 KINSSHIP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome LEXMATCH -MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch DOID:370 malignant olfactory nerve neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm LEXMATCH -MONDO:0851103 Bartholin's gland disease skos:exactMatch DOID:60002 Bartholin's gland disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartholins gland disorder LEXMATCH -MONDO:0851105 cerebrovascular benign neoplasm skos:exactMatch DOID:60007 cerebrovascular benign neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrovascular benign neoplasm LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 7d25fa66..549fb9e2 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -1,20 +1,20 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000022 nocturnal enuresis skos:exactMatch ICD10CM:N39.44 Nocturnal enuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocturnal enuresis LEXMATCH MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrocephalopolysyndactyly LEXMATCH -MONDO:0000129 glutaric aciduria skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric aciduria LEXMATCH MONDO:0000129 glutaric aciduria skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutaric aciduria LEXMATCH +MONDO:0000129 glutaric aciduria skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric aciduria LEXMATCH MONDO:0000153 transposition of the great arteries skos:exactMatch ICD10CM:Q20.3 Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transposition of great vessels LEXMATCH -MONDO:0000156 trigonocephaly skos:exactMatch ICD10CM:Q75.0 Craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trigonocephaly LEXMATCH MONDO:0000156 trigonocephaly skos:exactMatch ICD10CM:Q75.0 Craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trigonocephaly LEXMATCH +MONDO:0000156 trigonocephaly skos:exactMatch ICD10CM:Q75.0 Craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trigonocephaly LEXMATCH MONDO:0000190 ventricular fibrillation skos:exactMatch ICD10CM:I49.01 Ventricular fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular fibrillation LEXMATCH -MONDO:0000239 adiaspiromycosis skos:exactMatch ICD10CM:B48.8 Other specified mycoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adiaspiromycosis LEXMATCH MONDO:0000239 adiaspiromycosis skos:exactMatch ICD10CM:B48.8 Other specified mycoses semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adiaspiromycosis LEXMATCH +MONDO:0000239 adiaspiromycosis skos:exactMatch ICD10CM:B48.8 Other specified mycoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adiaspiromycosis LEXMATCH MONDO:0000241 Keshan disease skos:exactMatch ICD10CM:E59 Dietary selenium deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keshan disorder LEXMATCH MONDO:0000265 aspiration pneumonia skos:exactMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspiration pneumonia LEXMATCH MONDO:0000265 aspiration pneumonia skos:exactMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspiration pneumonia LEXMATCH MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch ICD10CM:B60.2 Naegleriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary amebic meningoencephalitis LEXMATCH -MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis LEXMATCH MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis LEXMATCH +MONDO:0000293 coenurosis skos:exactMatch ICD10CM:B71.8 Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis LEXMATCH MONDO:0000295 acanthocephaliasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthocephaliasis LEXMATCH MONDO:0000299 thelaziasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thelaziasis LEXMATCH MONDO:0000299 thelaziasis skos:exactMatch ICD10CM:B83.8 Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thelaziasis LEXMATCH @@ -44,8 +44,8 @@ MONDO:0000647 benign vaginal neoplasm skos:exactMatch ICD10CM:D28.1 Benign neopl MONDO:0000693 bipolar II disorder skos:exactMatch ICD10CM:F31.81 Bipolar II disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bipolar ii disorder LEXMATCH MONDO:0000701 ischemic colitis skos:exactMatch ICD10CM:K55.9 Vascular disorder of intestine, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ischemic colitis LEXMATCH MONDO:0000702 microscopic colitis skos:exactMatch ICD10CM:K52.83 Microscopic colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic colitis LEXMATCH -MONDO:0000741 angular cheilitis skos:exactMatch ICD10CM:K13.0 Diseases of lips semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angular cheilitis LEXMATCH MONDO:0000741 angular cheilitis skos:exactMatch ICD10CM:K13.0 Diseases of lips semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angular cheilitis LEXMATCH +MONDO:0000741 angular cheilitis skos:exactMatch ICD10CM:K13.0 Diseases of lips semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angular cheilitis LEXMATCH MONDO:0000751 cervical polyp skos:exactMatch ICD10CM:N84.1 Polyp of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of cervix uteri LEXMATCH MONDO:0000754 anal fistula skos:exactMatch ICD10CM:K60.5 Anorectal fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anorectal fistula LEXMATCH MONDO:0000809 purpura fulminans skos:exactMatch ICD10CM:D65 Disseminated intravascular coagulation [defibrination syndrome] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura fulminans LEXMATCH @@ -65,8 +65,8 @@ MONDO:0000952 cancer of long bone of lower limb skos:exactMatch ICD10CM:C40.2 Ma MONDO:0000955 ileum cancer skos:exactMatch ICD10CM:C17.2 Malignant neoplasm of ileum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ileum LEXMATCH MONDO:0000956 small intestine cancer skos:exactMatch ICD10CM:C17 Malignant neoplasm of small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of small intestine LEXMATCH MONDO:0000957 lacrimal passage granuloma skos:exactMatch ICD10CM:H04.81 Granuloma of lacrimal passages semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granuloma of lacrimal passages LEXMATCH -MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pinta LEXMATCH MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinta LEXMATCH +MONDO:0000979 pinta disease skos:exactMatch ICD10CM:A67 Pinta [carate] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pinta LEXMATCH MONDO:0000980 aortic atherosclerosis skos:exactMatch ICD10CM:I70.0 Atherosclerosis of aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atherosclerosis of aorta LEXMATCH MONDO:0000984 thalassemia skos:exactMatch ICD10CM:D57.40 Sickle-cell thalassemia without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell thalassemia without crisis LEXMATCH MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch ICD10CM:I21.4 Non-ST elevation (NSTEMI) myocardial infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute subendocardial myocardial infarction LEXMATCH @@ -85,18 +85,18 @@ MONDO:0001036 hypopyon skos:exactMatch ICD10CM:H20.05 Hypopyon semapv:LexicalMat MONDO:0001037 ring corneal ulcer skos:exactMatch ICD10CM:H16.02 Ring corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring corneal ulcer LEXMATCH MONDO:0001038 perforated corneal ulcer skos:exactMatch ICD10CM:H16.07 Perforated corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perforated corneal ulcer LEXMATCH MONDO:0001040 nasopharyngitis skos:exactMatch ICD10CM:J31.1 Chronic nasopharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic nasopharyngitis LEXMATCH -MONDO:0001046 imperforate anus skos:exactMatch ICD10CM:Q42.3 Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imperforate anus LEXMATCH MONDO:0001046 imperforate anus skos:exactMatch ICD10CM:Q42.3 Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym imperforate anus LEXMATCH -MONDO:0001061 pylorus cancer skos:exactMatch ICD10CM:C16.4 Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of prepylorus LEXMATCH +MONDO:0001046 imperforate anus skos:exactMatch ICD10CM:Q42.3 Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imperforate anus LEXMATCH MONDO:0001061 pylorus cancer skos:exactMatch ICD10CM:C16.4 Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pylorus LEXMATCH +MONDO:0001061 pylorus cancer skos:exactMatch ICD10CM:C16.4 Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of prepylorus LEXMATCH MONDO:0001062 pyloric antrum cancer skos:exactMatch ICD10CM:C16.3 Malignant neoplasm of pyloric antrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pyloric antrum LEXMATCH MONDO:0001064 acute eustachian salpingitis skos:exactMatch ICD10CM:H68.01 Acute Eustachian salpingitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute eustachian salpingitis LEXMATCH MONDO:0001065 supine hypotensive syndrome skos:exactMatch ICD10CM:O26.5 Maternal hypotension syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supine hypotensive syndrome LEXMATCH -MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frambesia, initial or primary LEXMATCH +MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label initial lesions of yaws LEXMATCH MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws LEXMATCH -MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.2 Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws LEXMATCH MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer LEXMATCH -MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label initial lesions of yaws LEXMATCH +MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.0 Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frambesia, initial or primary LEXMATCH +MONDO:0001067 early yaws skos:exactMatch ICD10CM:A66.2 Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws LEXMATCH MONDO:0001084 primary optic atrophy skos:exactMatch ICD10CM:H47.21 Primary optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary optic atrophy LEXMATCH MONDO:0001087 schizotypal personality disorder skos:exactMatch ICD10CM:F21 Schizotypal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizotypal personality disorder LEXMATCH MONDO:0001099 lactocele skos:exactMatch ICD10CM:N64.89 Other specified disorders of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactocele LEXMATCH @@ -106,8 +106,8 @@ MONDO:0001106 kidney failure skos:exactMatch ICD10CM:N28.9 Disorder of kidney an MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.22 Chronic petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic petrositis LEXMATCH MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.21 Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis LEXMATCH MONDO:0001110 chronic pyelonephritis skos:exactMatch ICD10CM:N11 Chronic tubulo-interstitial nephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic pyelonephritis LEXMATCH -MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia LEXMATCH MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial polycythemia LEXMATCH +MONDO:0001115 familial polycythemia skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia LEXMATCH MONDO:0001116 mesenteric lymphadenitis skos:exactMatch ICD10CM:I88.0 Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric lymphadenitis LEXMATCH MONDO:0001116 mesenteric lymphadenitis skos:exactMatch ICD10CM:I88.0 Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesenteric lymphadenitis LEXMATCH MONDO:0001117 methemoglobinemia skos:exactMatch ICD10CM:D74 Methemoglobinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobinemia LEXMATCH @@ -115,22 +115,22 @@ MONDO:0001118 Queensland tick typhus skos:exactMatch ICD10CM:A77.3 Spotted fever MONDO:0001119 premature menopause skos:exactMatch ICD10CM:E28.31 Premature menopause semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature menopause LEXMATCH MONDO:0001128 nasal cavity cancer skos:exactMatch ICD10CM:C30.0 Malignant neoplasm of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasal cavity LEXMATCH MONDO:0001143 paralytic strabismus skos:exactMatch ICD10CM:H49 Paralytic strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic strabismus LEXMATCH -MONDO:0001147 meningocele skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningocele LEXMATCH MONDO:0001147 meningocele skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningocele LEXMATCH +MONDO:0001147 meningocele skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningocele LEXMATCH MONDO:0001149 microcephaly skos:exactMatch ICD10CM:Q02 Microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly LEXMATCH -MONDO:0001154 Siberian tick typhus skos:exactMatch ICD10CM:A77.2 Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym siberian tick typhus LEXMATCH MONDO:0001154 Siberian tick typhus skos:exactMatch ICD10CM:A77.2 Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym north asian tick fever LEXMATCH +MONDO:0001154 Siberian tick typhus skos:exactMatch ICD10CM:A77.2 Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym siberian tick typhus LEXMATCH MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28 Gastrojejunal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrojejunal ulcer LEXMATCH MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28.1 Acute gastrojejunal ulcer with perforation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute gastrojejunal ulcer with perforation LEXMATCH MONDO:0001156 borderline personality disorder skos:exactMatch ICD10CM:F60.3 Borderline personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline personality disorder LEXMATCH MONDO:0001166 nephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephritis LEXMATCH -MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G80.2 Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic hemiplegic cerebral palsy LEXMATCH MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G81.1 Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia LEXMATCH -MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.03 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH +MONDO:0001168 spastic hemiplegia skos:exactMatch ICD10CM:G80.2 Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic hemiplegic cerebral palsy LEXMATCH MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.0 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH -MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder LEXMATCH +MONDO:0001171 acute salpingo-oophoritis skos:exactMatch ICD10CM:N70.03 Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salpingo-oophoritis LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian abscess LEXMATCH +MONDO:0001172 salpingo-oophoritis skos:exactMatch ICD10CM:N70 Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder LEXMATCH MONDO:0001174 conjunctival vascular disorder skos:exactMatch ICD10CM:H11.41 Vascular abnormalities of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular abnormalities of conjunctiva LEXMATCH MONDO:0001175 immature cataract skos:exactMatch ICD10CM:H25.09 Other age-related incipient cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water clefts LEXMATCH MONDO:0001179 pinguecula skos:exactMatch ICD10CM:H11.15 Pinguecula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinguecula LEXMATCH @@ -141,8 +141,8 @@ MONDO:0001198 acquired thrombocytopenia skos:exactMatch ICD10CM:D69.5 Secondary MONDO:0001205 hypersecretion glaucoma skos:exactMatch ICD10CM:H40.82 Hypersecretion glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersecretion glaucoma LEXMATCH MONDO:0001206 aqueous misdirection skos:exactMatch ICD10CM:H40.83 Aqueous misdirection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aqueous misdirection LEXMATCH MONDO:0001208 acute respiratory failure skos:exactMatch ICD10CM:J96.0 Acute respiratory failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute respiratory failure LEXMATCH -MONDO:0001209 common wart skos:exactMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym common wart LEXMATCH MONDO:0001209 common wart skos:exactMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common wart LEXMATCH +MONDO:0001209 common wart skos:exactMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym common wart LEXMATCH MONDO:0001209 common wart skos:exactMatch ICD10CM:B07 Viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym verruca vulgaris LEXMATCH MONDO:0001210 enophthalmos skos:exactMatch ICD10CM:H05.4 Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos LEXMATCH MONDO:0001212 non-suppurative otitis media skos:exactMatch ICD10CM:H65 Nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonsuppurative otitis media LEXMATCH @@ -161,8 +161,8 @@ MONDO:0001247 social phobia skos:exactMatch ICD10CM:F40.1 Social phobias semapv: MONDO:0001249 trachoma skos:exactMatch ICD10CM:A71 Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma LEXMATCH MONDO:0001249 trachoma skos:exactMatch ICD10CM:A71.0 Initial stage of trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trachoma dubium LEXMATCH MONDO:0001250 keratomalacia skos:exactMatch ICD10CM:H18.44 Keratomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratomalacia LEXMATCH -MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african histoplasmosis LEXMATCH MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african histoplasmosis LEXMATCH +MONDO:0001262 African histoplasmosis skos:exactMatch ICD10CM:B39.5 Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african histoplasmosis LEXMATCH MONDO:0001268 gingival recession skos:exactMatch ICD10CM:K06.01 Gingival recession, localized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession, localized LEXMATCH MONDO:0001270 stone in bladder diverticulum skos:exactMatch ICD10CM:N21.0 Calculus in bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calculus in diverticulum of bladder LEXMATCH MONDO:0001271 lens subluxation skos:exactMatch ICD10CM:H27.11 Subluxation of lens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subluxation of lens LEXMATCH @@ -175,8 +175,8 @@ MONDO:0001307 corneal abscess skos:exactMatch ICD10CM:H16.31 Corneal abscess sem MONDO:0001317 phlyctenulosis skos:exactMatch ICD10CM:H16.25 Phlyctenular keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phlyctenular keratoconjunctivitis LEXMATCH MONDO:0001320 ring staphyloma skos:exactMatch ICD10CM:H15.85 Ring staphyloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring staphyloma LEXMATCH MONDO:0001322 pericardium cancer skos:exactMatch ICD10CM:C38.0 Malignant neoplasm of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of pericardium LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60.2 Malignant neoplasm of body of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of penis LEXMATCH MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60 Malignant neoplasm of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of penis LEXMATCH +MONDO:0001325 penile cancer skos:exactMatch ICD10CM:C60.2 Malignant neoplasm of body of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of penis LEXMATCH MONDO:0001329 accommodative spasm skos:exactMatch ICD10CM:H52.53 Spasm of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spasm of accommodation LEXMATCH MONDO:0001334 hypertrichosis of eyelid skos:exactMatch ICD10CM:H02.86 Hypertrichosis of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis of eyelid LEXMATCH MONDO:0001335 hypotrichosis of eyelid skos:exactMatch ICD10CM:H02.72 Madarosis of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypotrichosis of eyelid LEXMATCH @@ -186,11 +186,11 @@ MONDO:0001350 parametrium malignant neoplasm skos:exactMatch ICD10CM:C57.3 Malig MONDO:0001352 round ligament malignant neoplasm skos:exactMatch ICD10CM:C57.2 Malignant neoplasm of round ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of round ligament LEXMATCH MONDO:0001355 ocular siderosis skos:exactMatch ICD10CM:H44.32 Siderosis of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label siderosis of eye LEXMATCH MONDO:0001356 iron deficiency anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iron deficiency anemia LEXMATCH -MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochromic anemia LEXMATCH MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochromic anemia LEXMATCH +MONDO:0001357 hypochromic anemia skos:exactMatch ICD10CM:D50 Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochromic anemia LEXMATCH MONDO:0001364 regular astigmatism skos:exactMatch ICD10CM:H52.22 Regular astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regular astigmatism LEXMATCH -MONDO:0001370 pericardial effusion skos:exactMatch ICD10CM:I31.3 Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericardial effusion LEXMATCH MONDO:0001370 pericardial effusion skos:exactMatch ICD10CM:I31.3 Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pericardial effusion LEXMATCH +MONDO:0001370 pericardial effusion skos:exactMatch ICD10CM:I31.3 Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericardial effusion LEXMATCH MONDO:0001377 vitreous syneresis skos:exactMatch ICD10CM:H43.81 Vitreous degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitreous degeneration LEXMATCH MONDO:0001378 urachus cancer skos:exactMatch ICD10CM:C67.7 Malignant neoplasm of urachus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of urachus LEXMATCH MONDO:0001385 cortical blindness skos:exactMatch ICD10CM:H47.61 Cortical blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical blindness LEXMATCH @@ -200,8 +200,8 @@ MONDO:0001395 macular keratitis skos:exactMatch ICD10CM:H16.11 Macular keratitis MONDO:0001398 ureter benign neoplasm skos:exactMatch ICD10CM:D30.2 Benign neoplasm of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of ureter LEXMATCH MONDO:0001402 vaginal cancer skos:exactMatch ICD10CM:C52 Malignant neoplasm of vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vagina LEXMATCH MONDO:0001409 esophagitis skos:exactMatch ICD10CM:K20 Esophagitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophagitis LEXMATCH -MONDO:0001414 osteopoikilosis skos:exactMatch ICD10CM:Q78.8 Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopoikilosis LEXMATCH MONDO:0001414 osteopoikilosis skos:exactMatch ICD10CM:Q78.8 Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteopoikilosis LEXMATCH +MONDO:0001414 osteopoikilosis skos:exactMatch ICD10CM:Q78.8 Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopoikilosis LEXMATCH MONDO:0001422 primary aldosteronism skos:exactMatch ICD10CM:E26.01 Conn's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conns syndrome LEXMATCH MONDO:0001429 transient arthropathy skos:exactMatch ICD10CM:M12.8 Other specific arthropathies, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient arthropathy LEXMATCH MONDO:0001430 deep corneal vascularisation skos:exactMatch ICD10CM:H16.44 Deep vascularization of cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep vascularization of cornea LEXMATCH @@ -232,8 +232,8 @@ MONDO:0001507 viral labyrinthitis skos:exactMatch ICD10CM:A88.1 Epidemic vertigo MONDO:0001512 intermittent proptosis skos:exactMatch ICD10CM:H05.25 Intermittent exophthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent exophthalmos LEXMATCH MONDO:0001513 pulsating exophthalmos skos:exactMatch ICD10CM:H05.26 Pulsating exophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulsating exophthalmos LEXMATCH MONDO:0001523 luxation of globe skos:exactMatch ICD10CM:H44.82 Luxation of globe semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label luxation of globe LEXMATCH -MONDO:0001528 vulva cancer skos:exactMatch ICD10CM:C51.9 Malignant neoplasm of vulva, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vulva, unspecified LEXMATCH MONDO:0001528 vulva cancer skos:exactMatch ICD10CM:C51 Malignant neoplasm of vulva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vulva LEXMATCH +MONDO:0001528 vulva cancer skos:exactMatch ICD10CM:C51.9 Malignant neoplasm of vulva, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vulva, unspecified LEXMATCH MONDO:0001529 pancytopenia skos:exactMatch ICD10CM:D61.81 Pancytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia LEXMATCH MONDO:0001541 plantar nerve lesion skos:exactMatch ICD10CM:G57.6 Lesion of plantar nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lesion of plantar nerve LEXMATCH MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch ICD10CM:H73.82 Atrophic nonflaccid tympanic membrane semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophic nonflaccid tympanic membrane LEXMATCH @@ -245,8 +245,8 @@ MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch ICD10CM:H04.03 MONDO:0001590 quadriplegia skos:exactMatch ICD10CM:G82.5 Quadriplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label quadriplegia LEXMATCH MONDO:0001594 Achilles bursitis skos:exactMatch ICD10CM:M76.6 Achilles tendinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achilles bursitis LEXMATCH MONDO:0001596 hypochondriasis skos:exactMatch ICD10CM:F45.21 Hypochondriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondriasis LEXMATCH -MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch ICD10CM:K11.8 Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland LEXMATCH MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch ICD10CM:K11.8 Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland LEXMATCH +MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch ICD10CM:K11.8 Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland LEXMATCH MONDO:0001603 paralytic lagophthalmos skos:exactMatch ICD10CM:H02.23 Paralytic lagophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic lagophthalmos LEXMATCH MONDO:0001610 acute dacryocystitis skos:exactMatch ICD10CM:H04.32 Acute dacryocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute dacryocystitis LEXMATCH MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch ICD10CM:B30.0 Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shipyard eye LEXMATCH @@ -254,8 +254,8 @@ MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch ICD10CM:B30.0 Kerato MONDO:0001638 protein-deficiency anemia skos:exactMatch ICD10CM:D53.0 Protein deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001641 severe pre-eclampsia skos:exactMatch ICD10CM:O14.1 Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia LEXMATCH MONDO:0001642 hordeolum externum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hordeolum externum LEXMATCH -MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce LEXMATCH MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of foreskin LEXMATCH +MONDO:0001653 prepuce cancer skos:exactMatch ICD10CM:C60.0 Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce LEXMATCH MONDO:0001654 spermatic cord cancer skos:exactMatch ICD10CM:C63.1 Malignant neoplasm of spermatic cord semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spermatic cord LEXMATCH MONDO:0001657 brain cancer skos:exactMatch ICD10CM:C71 Malignant neoplasm of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain LEXMATCH MONDO:0001676 erythropoietic protoporphyria skos:exactMatch ICD10CM:E80.0 Hereditary erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythropoietic protoporphyria LEXMATCH @@ -265,8 +265,8 @@ MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch ICD10CM:H10.43 C MONDO:0001691 laryngeal cartilage cancer skos:exactMatch ICD10CM:C32.3 Malignant neoplasm of laryngeal cartilage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of laryngeal cartilage LEXMATCH MONDO:0001694 diffuse interstitial keratitis skos:exactMatch ICD10CM:H16.32 Diffuse interstitial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse interstitial keratitis LEXMATCH MONDO:0001708 pulmonary sarcoidosis skos:exactMatch ICD10CM:D86.0 Sarcoidosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sarcoidosis of lung LEXMATCH -MONDO:0001714 bejel skos:exactMatch ICD10CM:A65 Nonvenereal syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bejel LEXMATCH MONDO:0001714 bejel skos:exactMatch ICD10CM:A65 Nonvenereal syphilis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym njovera LEXMATCH +MONDO:0001714 bejel skos:exactMatch ICD10CM:A65 Nonvenereal syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bejel LEXMATCH MONDO:0001716 corneal argyrosis skos:exactMatch ICD10CM:H18.02 Argentous corneal deposits semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argentous corneal deposits LEXMATCH MONDO:0001717 posterior corneal pigmentation skos:exactMatch ICD10CM:H18.05 Posterior corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior corneal pigmentations LEXMATCH MONDO:0001718 scleritis skos:exactMatch ICD10CM:H15.0 Scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleritis LEXMATCH @@ -276,8 +276,8 @@ MONDO:0001725 balanitis xerotica obliterans skos:exactMatch ICD10CM:N48.0 Leukop MONDO:0001734 tuberous sclerosis skos:exactMatch ICD10CM:Q85.1 Tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberous sclerosis LEXMATCH MONDO:0001742 interval angle-closure glaucoma skos:exactMatch ICD10CM:H40.23 Intermittent angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent angle-closure glaucoma LEXMATCH MONDO:0001746 optic disk drusen skos:exactMatch ICD10CM:H47.32 Drusen of optic disc semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drusen of optic disc LEXMATCH -MONDO:0001748 maxillary sinus carcinoma skos:exactMatch ICD10CM:C31.0 Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of maxillary sinus LEXMATCH MONDO:0001748 maxillary sinus carcinoma skos:exactMatch ICD10CM:C31.0 Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of antrum LEXMATCH +MONDO:0001748 maxillary sinus carcinoma skos:exactMatch ICD10CM:C31.0 Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of maxillary sinus LEXMATCH MONDO:0001751 cholestasis skos:exactMatch ICD10CM:K83.1 Obstruction of bile duct semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstruction of bile duct LEXMATCH MONDO:0001752 alveolar periostitis skos:exactMatch ICD10CM:M27.3 Alveolitis of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dry socket LEXMATCH MONDO:0001760 photokeratitis skos:exactMatch ICD10CM:H16.13 Photokeratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label photokeratitis LEXMATCH @@ -319,10 +319,10 @@ MONDO:0001910 ochronosis disorder skos:exactMatch ICD10CM:E70.29 Other disorders MONDO:0001913 oligospermia skos:exactMatch ICD10CM:N46.1 Oligospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligospermia LEXMATCH MONDO:0001914 scleromalacia perforans skos:exactMatch ICD10CM:H15.05 Scleromalacia perforans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromalacia perforans LEXMATCH MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch ICD10CM:H04.21 Epiphora due to excess lacrimation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphora due to excess lacrimation LEXMATCH -MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder LEXMATCH MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic atticoantral suppurative otitis media LEXMATCH -MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis LEXMATCH +MONDO:0001921 chronic atticoantral disease skos:exactMatch ICD10CM:H66.2 Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder LEXMATCH MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis LEXMATCH +MONDO:0001928 suppurative cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis LEXMATCH MONDO:0001929 ascending cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ascending cholangitis LEXMATCH MONDO:0001929 ascending cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ascending cholangitis LEXMATCH MONDO:0001935 neurogenic arthropathy skos:exactMatch ICD10CM:M14.6 Charcôt's joint semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathic arthropathy LEXMATCH @@ -330,31 +330,31 @@ MONDO:0001936 brawny scleritis skos:exactMatch ICD10CM:H15.02 Brawny scleritis s MONDO:0001938 vulvar dystrophy skos:exactMatch ICD10CM:N90.4 Leukoplakia of vulva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of vulva LEXMATCH MONDO:0001941 blindness (disorder) skos:exactMatch ICD10CM:H54 Blindness and low vision semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch ICD10CM:G21.3 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism LEXMATCH -MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis LEXMATCH MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis LEXMATCH +MONDO:0001947 suppurative thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis LEXMATCH MONDO:0001950 corneal ectasia skos:exactMatch ICD10CM:H18.71 Corneal ectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ectasia LEXMATCH MONDO:0001955 protozoal dysentery skos:exactMatch ICD10CM:A07.9 Protozoal intestinal disease, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protozoal dysentery LEXMATCH MONDO:0001965 sclerosing keratitis skos:exactMatch ICD10CM:H16.33 Sclerosing keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing keratitis LEXMATCH MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch ICD10CM:H40.22 Chronic angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic angle-closure glaucoma LEXMATCH MONDO:0001971 farmer's lung disease skos:exactMatch ICD10CM:J67.0 Farmer's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farmers lung LEXMATCH MONDO:0001979 dumping syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dumping syndrome LEXMATCH -MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.248 Other Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.24 Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH +MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.248 Other Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder LEXMATCH MONDO:0001984 candidal paronychia skos:exactMatch ICD10CM:B37.2 Candidiasis of skin and nail semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym candidal paronychia LEXMATCH MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foster-kennedy syndrome LEXMATCH MONDO:0002003 papilledema skos:exactMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papilledema LEXMATCH MONDO:0002033 cecum cancer skos:exactMatch ICD10CM:C18.0 Malignant neoplasm of cecum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cecum LEXMATCH MONDO:0002043 ectropion skos:exactMatch ICD10CM:H02.1 Ectropion of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectropion of eyelid LEXMATCH MONDO:0002046 alcohol abuse skos:exactMatch ICD10CM:F10.1 Alcohol abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse LEXMATCH +MONDO:0002052 lymphadenitis skos:exactMatch ICD10CM:I88.1 Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphadenitis LEXMATCH MONDO:0002052 lymphadenitis skos:exactMatch ICD10CM:I88.1 Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenitis LEXMATCH MONDO:0002052 lymphadenitis skos:exactMatch ICD10CM:I88.1 Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphadenitis LEXMATCH -MONDO:0002052 lymphadenitis skos:exactMatch ICD10CM:I88.1 Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphadenitis LEXMATCH MONDO:0002056 breast fibroadenoma skos:exactMatch ICD10CM:D24 Benign neoplasm of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibroadenoma of breast LEXMATCH MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch ICD10CM:C50.2 Malignant neoplasm of upper-inner quadrant of breast semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch ICD10CM:C50.3 Malignant neoplasm of lower-inner quadrant of breast semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002070 ventricular septal defect skos:exactMatch ICD10CM:Q21.0 Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect LEXMATCH -MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome LEXMATCH MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome LEXMATCH +MONDO:0002083 Richter syndrome skos:exactMatch ICD10CM:C91.1 Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome LEXMATCH MONDO:0002088 partial retinal vein occlusion skos:exactMatch ICD10CM:H34.82 Venous engorgement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial retinal vein occlusion LEXMATCH MONDO:0002088 partial retinal vein occlusion skos:exactMatch ICD10CM:H34.82 Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion LEXMATCH MONDO:0002108 thyroid cancer skos:exactMatch ICD10CM:C73 Malignant neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thyroid gland LEXMATCH @@ -364,14 +364,14 @@ MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch ICD10CM:H01.13 Ecz MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch ICD10CM:H01.1 Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid LEXMATCH MONDO:0002152 intermittent squint skos:exactMatch ICD10CM:H50.3 Intermittent heterotropia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent heterotropia LEXMATCH MONDO:0002155 cholecystitis skos:exactMatch ICD10CM:K81 Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of fallopian tube LEXMATCH MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube LEXMATCH +MONDO:0002158 fallopian tube cancer skos:exactMatch ICD10CM:C57.0 Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of fallopian tube LEXMATCH MONDO:0002164 focal chorioretinitis skos:exactMatch ICD10CM:H30.0 Focal chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym focal chorioretinitis LEXMATCH MONDO:0002170 chronic eustachian salpingitis skos:exactMatch ICD10CM:H68.02 Chronic Eustachian salpingitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic eustachian salpingitis LEXMATCH MONDO:0002178 placenta cancer skos:exactMatch ICD10CM:C58 Malignant neoplasm of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of placenta LEXMATCH +MONDO:0002181 exostosis skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exostosis LEXMATCH MONDO:0002181 exostosis skos:exactMatch ICD10CM:M25.7 Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte LEXMATCH MONDO:0002181 exostosis skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exostosis LEXMATCH -MONDO:0002181 exostosis skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exostosis LEXMATCH MONDO:0002185 hyperostosis skos:exactMatch ICD10CM:M89.3 Hypertrophy of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophy of bone LEXMATCH MONDO:0002212 pneumonic tularemia skos:exactMatch ICD10CM:A21.2 Pulmonary tularemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary tularemia LEXMATCH MONDO:0002238 ascending colon cancer skos:exactMatch ICD10CM:C18.2 Malignant neoplasm of ascending colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ascending colon LEXMATCH @@ -381,35 +381,35 @@ MONDO:0002268 dyspepsia skos:exactMatch ICD10CM:K30 Functional dyspepsia semapv: MONDO:0002282 West Nile fever skos:exactMatch ICD10CM:A92.3 West Nile virus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym west nile fever LEXMATCH MONDO:0002290 clitoris cancer skos:exactMatch ICD10CM:C51.2 Malignant neoplasm of clitoris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of clitoris LEXMATCH MONDO:0002303 central retinal vein occlusion skos:exactMatch ICD10CM:H34.81 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal vein occlusion LEXMATCH -MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein s deficiency LEXMATCH MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protein s deficiency LEXMATCH +MONDO:0002304 protein S deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein s deficiency LEXMATCH MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch ICD10CM:H10.52 Angular blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angular blepharoconjunctivitis LEXMATCH MONDO:0002310 anterior dislocation of lens skos:exactMatch ICD10CM:H27.12 Anterior dislocation of lens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior dislocation of lens LEXMATCH MONDO:0002317 central nervous system origin vertigo skos:exactMatch ICD10CM:H81.4 Vertigo of central origin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vertigo of central origin LEXMATCH -MONDO:0002345 cervicitis skos:exactMatch ICD10CM:N72 Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervicitis LEXMATCH MONDO:0002345 cervicitis skos:exactMatch ICD10CM:N72 Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervicitis LEXMATCH +MONDO:0002345 cervicitis skos:exactMatch ICD10CM:N72 Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervicitis LEXMATCH MONDO:0002350 familial nephrotic syndrome skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital nephrotic syndrome LEXMATCH MONDO:0002351 glottis cancer skos:exactMatch ICD10CM:C32.0 Malignant neoplasm of glottis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of glottis LEXMATCH MONDO:0002352 larynx cancer skos:exactMatch ICD10CM:C32 Malignant neoplasm of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of larynx LEXMATCH MONDO:0002354 benign laryngeal neoplasm skos:exactMatch ICD10CM:D14.1 Benign neoplasm of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of larynx LEXMATCH MONDO:0002357 hepatic flexure cancer skos:exactMatch ICD10CM:C18.3 Malignant neoplasm of hepatic flexure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of hepatic flexure LEXMATCH MONDO:0002361 transverse colon cancer skos:exactMatch ICD10CM:C18.4 Malignant neoplasm of transverse colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of transverse colon LEXMATCH -MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermoid cyst LEXMATCH MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dermoid cyst LEXMATCH +MONDO:0002378 dermoid cyst skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermoid cyst LEXMATCH MONDO:0002407 capillary hemangioma skos:exactMatch ICD10CM:Q82.5 Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strawberry nevus LEXMATCH MONDO:0002412 disorder of glycogen metabolism skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder LEXMATCH MONDO:0002420 tic disorder skos:exactMatch ICD10CM:F95 Tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tic disorder LEXMATCH MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch ICD10CM:J84.112 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic fibrosing alveolitis LEXMATCH MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch ICD10CM:J84.11 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic interstitial pneumonia LEXMATCH MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch ICD10CM:C72.4 Malignant neoplasm of acoustic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant neoplasm of acoustic nerve LEXMATCH -MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired polycythemia LEXMATCH MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired polycythemia LEXMATCH +MONDO:0002438 acquired polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired polycythemia LEXMATCH MONDO:0002440 erythropoietin polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrogenous polycythemia LEXMATCH -MONDO:0002443 bruxism skos:exactMatch ICD10CM:G47.63 Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism LEXMATCH MONDO:0002443 bruxism skos:exactMatch ICD10CM:F45.8 Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding LEXMATCH +MONDO:0002443 bruxism skos:exactMatch ICD10CM:G47.63 Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism LEXMATCH MONDO:0002457 Treacher-Collins syndrome skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome LEXMATCH -MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis LEXMATCH MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis LEXMATCH +MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis LEXMATCH MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis LEXMATCH MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis LEXMATCH MONDO:0002474 primary hyperoxaluria skos:exactMatch ICD10CM:E72.53 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria LEXMATCH @@ -432,10 +432,10 @@ MONDO:0002903 articulation disorder skos:exactMatch ICD10CM:F80.0 Phonological d MONDO:0002912 brainstem cancer skos:exactMatch ICD10CM:C71.7 Malignant neoplasm of brain stem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain stem LEXMATCH MONDO:0002929 pulmonary immaturity skos:exactMatch ICD10CM:P28.0 Primary atelectasis of newborn semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary atelectasis of newborn LEXMATCH MONDO:0002931 conjunctivochalasis skos:exactMatch ICD10CM:H11.82 Conjunctivochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjunctivochalasis LEXMATCH -MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch ICD10CM:C44.510 Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of anal margin LEXMATCH MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch ICD10CM:C44.510 Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of perianal skin LEXMATCH -MONDO:0002965 parovarian cyst skos:exactMatch ICD10CM:Q50.5 Embryonic cyst of broad ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parovarian cyst LEXMATCH +MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch ICD10CM:C44.510 Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of anal margin LEXMATCH MONDO:0002965 parovarian cyst skos:exactMatch ICD10CM:Q50.5 Embryonic cyst of broad ligament semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym parovarian cyst LEXMATCH +MONDO:0002965 parovarian cyst skos:exactMatch ICD10CM:Q50.5 Embryonic cyst of broad ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parovarian cyst LEXMATCH MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch ICD10CM:B35.0 Tinea barbae and tinea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scalp ringworm LEXMATCH MONDO:0002969 ciliary body cancer skos:exactMatch ICD10CM:C69.4 Malignant neoplasm of ciliary body semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ciliary body LEXMATCH MONDO:0002972 posterior mediastinum cancer skos:exactMatch ICD10CM:C38.2 Malignant neoplasm of posterior mediastinum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior mediastinum LEXMATCH @@ -473,10 +473,9 @@ MONDO:0004126 thyroiditis skos:exactMatch ICD10CM:E06 Thyroiditis semapv:Lexical MONDO:0004151 spinal meninges cancer skos:exactMatch ICD10CM:C70.1 Malignant neoplasm of spinal meninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spinal meninges LEXMATCH MONDO:0004170 nodular episcleritis skos:exactMatch ICD10CM:H15.12 Nodular episcleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular episcleritis LEXMATCH MONDO:0004177 benign urethral neoplasm skos:exactMatch ICD10CM:D30.4 Benign neoplasm of urethra semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of urethra LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:exactMatch ICD10CM:M92.52 Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osgood-schlatter disorder LEXMATCH MONDO:0004241 Osgood-Schlatter disease skos:exactMatch ICD10CM:M92.52 Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osgood-schlatter disorder LEXMATCH +MONDO:0004241 Osgood-Schlatter disease skos:exactMatch ICD10CM:M92.52 Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osgood-schlatter disorder LEXMATCH MONDO:0004272 urinary bladder tuberculosis skos:exactMatch ICD10CM:A18.12 Tuberculosis of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of bladder LEXMATCH -MONDO:0004375 end stage renal failure skos:exactMatch ICD10CM:N18.5 Chronic kidney disease, stage 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic kidney disorder, stage type 5 LEXMATCH MONDO:0004375 end stage renal failure skos:exactMatch ICD10CM:N18.6 End stage renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label end stage renal disorder LEXMATCH MONDO:0004390 ocular hypotension skos:exactMatch ICD10CM:H44.4 Hypotony of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotony of eye LEXMATCH MONDO:0004431 hemarthrosis skos:exactMatch ICD10CM:M25.0 Hemarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemarthrosis LEXMATCH @@ -490,12 +489,12 @@ MONDO:0004522 peritonitis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis MONDO:0004549 cork-handlers' disease skos:exactMatch ICD10CM:J67.3 Suberosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label suberosis LEXMATCH MONDO:0004566 postgastrectomy syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postgastrectomy syndrome LEXMATCH MONDO:0004568 paralytic ileus skos:exactMatch ICD10CM:K56.0 Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus LEXMATCH -MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency LEXMATCH MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ariboflavinosis LEXMATCH +MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency LEXMATCH MONDO:0004573 ariboflavinosis skos:exactMatch ICD10CM:E53.0 Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riboflavin deficiency LEXMATCH MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I01.2 Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis LEXMATCH -MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:M05.3 Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis LEXMATCH MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:I09.0 Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis LEXMATCH +MONDO:0004582 rheumatic myocarditis skos:exactMatch ICD10CM:M05.3 Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis LEXMATCH MONDO:0004584 maple bark strippers' lung skos:exactMatch ICD10CM:J67.6 Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale LEXMATCH MONDO:0004585 polyhydramnios skos:exactMatch ICD10CM:O40 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios LEXMATCH MONDO:0004587 hereditary night blindness skos:exactMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness LEXMATCH @@ -508,23 +507,23 @@ MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.8 Malignant neoplasm MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10.2 Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lateral wall of oropharynx LEXMATCH MONDO:0004614 chronic monocytic leukemia skos:exactMatch ICD10CM:C93.1 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic monocytic leukemia LEXMATCH MONDO:0004618 diplegia of upper limb skos:exactMatch ICD10CM:G83.0 Diplegia of upper limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diplegia of upper limbs LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma LEXMATCH MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma LEXMATCH +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch ICD10CM:C81.2 Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma LEXMATCH MONDO:0004637 aryepiglottic fold cancer skos:exactMatch ICD10CM:C13.1 Malignant neoplasm of aryepiglottic fold, hypopharyngeal aspect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004643 myeloid leukemia skos:exactMatch ICD10CM:C92 Myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid leukemia LEXMATCH -MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer LEXMATCH MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym decubitus ulcer LEXMATCH +MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer LEXMATCH MONDO:0004646 decubitus ulcer skos:exactMatch ICD10CM:L89 Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pressure ulcer LEXMATCH -MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01.5 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH +MONDO:0004648 vascular dementia skos:exactMatch ICD10CM:F01.5 Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia LEXMATCH MONDO:0004652 bacterial pneumonia skos:exactMatch ICD10CM:J15.6 Pneumonia due to other Gram-negative bacteria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to other gram-negative bacteria LEXMATCH MONDO:0004657 disseminated chorioretinitis skos:exactMatch ICD10CM:H30.1 Disseminated chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated chorioretinitis LEXMATCH MONDO:0004658 breast carcinoma in situ skos:exactMatch ICD10CM:D05 Carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of breast LEXMATCH MONDO:0004659 eye carcinoma in situ skos:exactMatch ICD10CM:D09.2 Carcinoma in situ of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of eye LEXMATCH MONDO:0004662 heterophyiasis skos:exactMatch ICD10CM:B66.8 Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heterophyiasis LEXMATCH MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH -MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma LEXMATCH MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma LEXMATCH +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch ICD10CM:C81.1 Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma LEXMATCH MONDO:0004666 metagonimiasis skos:exactMatch ICD10CM:B66.8 Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metagonimiasis LEXMATCH MONDO:0004667 sublingual gland cancer skos:exactMatch ICD10CM:C08.1 Malignant neoplasm of sublingual gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of sublingual gland LEXMATCH MONDO:0004671 penis carcinoma in situ skos:exactMatch ICD10CM:D07.4 Carcinoma in situ of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of penis LEXMATCH @@ -533,8 +532,8 @@ MONDO:0004686 lattice corneal dystrophy skos:exactMatch ICD10CM:H18.54 Lattice c MONDO:0004700 parotid gland cancer skos:exactMatch ICD10CM:C07 Malignant neoplasm of parotid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parotid gland LEXMATCH MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch ICD10CM:H01.12 Discoid lupus erythematosus of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus of eyelid LEXMATCH MONDO:0004718 xeroderma of eyelid skos:exactMatch ICD10CM:H01.14 Xeroderma of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma of eyelid LEXMATCH -MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant neoplasm of submandibular gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of submandibular gland LEXMATCH MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant neoplasm of submandibular gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of submaxillary gland LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch ICD10CM:C08.0 Malignant neoplasm of submandibular gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of submandibular gland LEXMATCH MONDO:0004746 myopathy of extraocular muscle skos:exactMatch ICD10CM:H05.82 Myopathy of extraocular muscles semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy of extraocular muscles LEXMATCH MONDO:0004747 cleft lip skos:exactMatch ICD10CM:Q36 Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip LEXMATCH MONDO:0004758 scotoma skos:exactMatch ICD10CM:H53.42 Scotoma of blind spot area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scotoma of blind spot area LEXMATCH @@ -558,11 +557,11 @@ MONDO:0004841 kidney hypertrophy skos:exactMatch ICD10CM:N28.81 Hypertrophy of k MONDO:0004842 stomatitis skos:exactMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral mucositis LEXMATCH MONDO:0004844 oral mucosa leukoplakia skos:exactMatch ICD10CM:K13.21 Leukoplakia of oral mucosa, including tongue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukokeratosis of oral mucosa LEXMATCH MONDO:0004845 aphthous stomatitis skos:exactMatch ICD10CM:K12.0 Recurrent oral aphthae semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aphthous stomatitis LEXMATCH -MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature separation of placenta LEXMATCH MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature separation of placenta LEXMATCH +MONDO:0004846 placental abruption skos:exactMatch ICD10CM:O45 Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature separation of placenta LEXMATCH MONDO:0004847 senile cataract skos:exactMatch ICD10CM:H25 Age-related cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senile cataract LEXMATCH -MONDO:0004848 ulcerative stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative stomatitis LEXMATCH MONDO:0004848 ulcerative stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative stomatitis LEXMATCH +MONDO:0004848 ulcerative stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative stomatitis LEXMATCH MONDO:0004853 gonococcal endophthalmia skos:exactMatch ICD10CM:A54.39 Other gonococcal eye infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonococcal endophthalmia LEXMATCH MONDO:0004856 rosacea conjunctivitis skos:exactMatch ICD10CM:H10.82 Rosacea conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rosacea conjunctivitis LEXMATCH MONDO:0004861 ophthalmia nodosa skos:exactMatch ICD10CM:H16.24 Ophthalmia nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmia nodosa LEXMATCH @@ -600,8 +599,8 @@ MONDO:0005041 glaucoma skos:exactMatch ICD10CM:H40 Glaucoma semapv:LexicalMatchi MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I10 Essential (primary) hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym high blood pressure LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.1 Kaposi's sarcoma of soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of soft tissue LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46 Kaposi's sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposis sarcoma LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.5 Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung LEXMATCH MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.2 Kaposi's sarcoma of palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of palate LEXMATCH +MONDO:0005055 Kaposi's sarcoma skos:exactMatch ICD10CM:C46.5 Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung LEXMATCH MONDO:0005077 pertussis skos:exactMatch ICD10CM:A37 Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough LEXMATCH MONDO:0005078 phyllodes tumor skos:exactMatch ICD10CM:D48.6 Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes LEXMATCH MONDO:0005081 preeclampsia skos:exactMatch ICD10CM:O14 Pre-eclampsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pre-eclampsia LEXMATCH @@ -612,32 +611,32 @@ MONDO:0005100 systemic sclerosis skos:exactMatch ICD10CM:M34.0 Progressive syste MONDO:0005101 ulcerative colitis skos:exactMatch ICD10CM:K51 Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis LEXMATCH MONDO:0005119 anthrax infection skos:exactMatch ICD10CM:A22 Anthrax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anthrax LEXMATCH MONDO:0005136 malaria skos:exactMatch ICD10CM:B53 Other specified malaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis LEXMATCH -MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder LEXMATCH MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-traumatic stress disorder LEXMATCH +MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder LEXMATCH +MONDO:0005146 post-traumatic stress disorder skos:exactMatch ICD10CM:F43.1 Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis LEXMATCH MONDO:0005147 type 1 diabetes mellitus skos:exactMatch ICD10CM:E10 Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus LEXMATCH MONDO:0005148 type 2 diabetes mellitus skos:exactMatch ICD10CM:E11 Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus LEXMATCH -MONDO:0005150 age-related macular degeneration skos:exactMatch ICD10CM:H35.30 Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration LEXMATCH MONDO:0005150 age-related macular degeneration skos:exactMatch ICD10CM:H35.30 Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym age-related macular degeneration LEXMATCH -MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.5 Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured LEXMATCH +MONDO:0005150 age-related macular degeneration skos:exactMatch ICD10CM:H35.30 Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration LEXMATCH MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.3 Abdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abdominal aortic aneurysm, ruptured LEXMATCH MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.1 Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured LEXMATCH +MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.5 Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured LEXMATCH MONDO:0005160 aortic aneurysm skos:exactMatch ICD10CM:I71.8 Aortic aneurysm of unspecified site, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm of unspecified site, ruptured LEXMATCH MONDO:0005165 benign neoplasm skos:exactMatch ICD10CM:D10-D36 Benign neoplasms, except benign neuroendocrine tumors (D10-D36) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M19 Other and unspecified osteoarthritis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkinsons disorder LEXMATCH MONDO:0005180 Parkinson disease skos:exactMatch ICD10CM:G20 Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis agitans LEXMATCH MONDO:0005186 cocaine dependence skos:exactMatch ICD10CM:F14.2 Cocaine dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine dependence LEXMATCH -MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH +MONDO:0005187 human herpesvirus 8 infection skos:exactMatch ICD10CM:B10.89 Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus type 8 infection LEXMATCH MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch ICD10CM:N42.31 Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin LEXMATCH MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch ICD10CM:N42.31 Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic intraepithelial neoplasia LEXMATCH MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy LEXMATCH -MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60 Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy LEXMATCH MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60.1 Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic disorder of breast LEXMATCH +MONDO:0005219 breast fibrocystic disease skos:exactMatch ICD10CM:N60 Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy LEXMATCH MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m1 LEXMATCH -MONDO:0005227 abscess skos:exactMatch ICD10CM:G06.1 Intraspinal abscess and granuloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH MONDO:0005227 abscess skos:exactMatch ICD10CM:N34.0 Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH +MONDO:0005227 abscess skos:exactMatch ICD10CM:G06.1 Intraspinal abscess and granuloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess LEXMATCH MONDO:0005242 empyema skos:exactMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym empyema LEXMATCH MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M27.2 Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteomyelitis LEXMATCH MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M86 Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis LEXMATCH @@ -645,9 +644,9 @@ MONDO:0005246 osteomyelitis skos:exactMatch ICD10CM:M27.2 Inflammatory condition MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch ICD10CM:M08.4 Pauciarticular juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005252 heart failure skos:exactMatch ICD10CM:I50 Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure LEXMATCH MONDO:0005253 high output heart failure skos:exactMatch ICD10CM:I50.83 High output heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high output heart failure LEXMATCH +MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder LEXMATCH MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder LEXMATCH MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84 Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders LEXMATCH -MONDO:0005258 autism spectrum disorder skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder LEXMATCH MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile autism LEXMATCH MONDO:0005260 autism skos:exactMatch ICD10CM:F84.0 Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome LEXMATCH MONDO:0005277 migraine disorder skos:exactMatch ICD10CM:G43 Migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label migraine LEXMATCH @@ -671,15 +670,15 @@ MONDO:0005377 nephrotic syndrome skos:exactMatch ICD10CM:N04 Nephrotic syndrome MONDO:0005382 bone Paget disease skos:exactMatch ICD10CM:M88 Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteitis deformans LEXMATCH MONDO:0005382 bone Paget disease skos:exactMatch ICD10CM:M88 Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis deformans LEXMATCH MONDO:0005383 panic disorder skos:exactMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panic disorder LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis LEXMATCH MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary biliary cholangitis LEXMATCH MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nonsuppurative destructive cholangitis LEXMATCH +MONDO:0005388 primary biliary cholangitis skos:exactMatch ICD10CM:K74.3 Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis LEXMATCH MONDO:0005402 lymphoid leukemia skos:exactMatch ICD10CM:C91 Lymphoid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid leukemia LEXMATCH MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch ICD10CM:G93.3 Postviral fatigue syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postviral fatigue syndrome LEXMATCH MONDO:0005406 gestational diabetes skos:exactMatch ICD10CM:O24.4 Gestational diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational diabetes mellitus LEXMATCH MONDO:0005411 gallbladder cancer skos:exactMatch ICD10CM:C23 Malignant neoplasm of gallbladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gallbladder LEXMATCH -MONDO:0005439 familial hypercholesterolemia skos:exactMatch ICD10CM:E78.01 Familial hypercholesterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypercholesterolemia LEXMATCH MONDO:0005439 familial hypercholesterolemia skos:exactMatch ICD10CM:E78.00 Pure hypercholesterolemia, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperbetalipoproteinemia LEXMATCH +MONDO:0005439 familial hypercholesterolemia skos:exactMatch ICD10CM:E78.01 Familial hypercholesterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypercholesterolemia LEXMATCH MONDO:0005447 testicular cancer skos:exactMatch ICD10CM:C62 Malignant neoplasm of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of testis LEXMATCH MONDO:0005453 congenital heart disease skos:exactMatch ICD10CM:Q24.9 Congenital malformation of heart, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital anomaly of heart LEXMATCH MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch ICD10CM:H33.0 Retinal detachment with retinal break semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rhegmatogenous retinal detachment LEXMATCH @@ -689,8 +688,8 @@ MONDO:0005469 orthostatic hypotension skos:exactMatch ICD10CM:I95.1 Orthostatic MONDO:0005475 migraine with aura skos:exactMatch ICD10CM:G43.1 Migraine with aura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label migraine with aura LEXMATCH MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodontia LEXMATCH MONDO:0005486 tooth agenesis skos:exactMatch ICD10CM:K00.0 Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia LEXMATCH -MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever LEXMATCH MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever LEXMATCH +MONDO:0005502 dengue disease skos:exactMatch ICD10CM:A90 Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever LEXMATCH MONDO:0005507 gingival cancer skos:exactMatch ICD10CM:C03 Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gum LEXMATCH MONDO:0005507 gingival cancer skos:exactMatch ICD10CM:C03 Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of gingiva LEXMATCH MONDO:0005530 opiate dependence skos:exactMatch ICD10CM:F11.2 Opioid dependence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opioid dependence LEXMATCH @@ -698,8 +697,8 @@ MONDO:0005541 spondylolysis skos:exactMatch ICD10CM:M43.0 Spondylolysis semapv:L MONDO:0005550 infectious disease skos:exactMatch ICD10CM:B99.8 Other infectious disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious disorder LEXMATCH MONDO:0005555 cycloplegia skos:exactMatch ICD10CM:H52.52 Paresis of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paresis of accommodation LEXMATCH MONDO:0005566 neonatal abstinence syndrome skos:exactMatch ICD10CM:P96.1 Neonatal withdrawal symptoms from maternal use of drugs of addiction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal abstinence syndrome LEXMATCH -MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atheroembolism LEXMATCH MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesterol embolism LEXMATCH +MONDO:0005568 cholesterol embolism skos:exactMatch ICD10CM:I75 Atheroembolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atheroembolism LEXMATCH MONDO:0005582 binge eating disorder skos:exactMatch ICD10CM:F50.81 Binge eating disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label binge eating disorder LEXMATCH MONDO:0005618 anxiety disorder skos:exactMatch ICD10CM:F41.1 Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anxiety state LEXMATCH MONDO:0005619 typhoid fever skos:exactMatch ICD10CM:A01.0 Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever LEXMATCH @@ -710,20 +709,20 @@ MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch ICD10CM:A96 Arenavira MONDO:0005659 atrophic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophic rhinitis LEXMATCH MONDO:0005659 atrophic rhinitis skos:exactMatch ICD10CM:J31.0 Chronic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ozena LEXMATCH MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brill-zinsser disorder LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym recrudescent typhus LEXMATCH MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus LEXMATCH -MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.2 Cannabis dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cannabis dependence LEXMATCH +MONDO:0005680 Brill-Zinsser disease skos:exactMatch ICD10CM:A75.1 Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym recrudescent typhus LEXMATCH MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.1 Cannabis abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cannabis abuse LEXMATCH +MONDO:0005689 cannabis dependence skos:exactMatch ICD10CM:F12.2 Cannabis dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cannabis dependence LEXMATCH MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label varicella LEXMATCH MONDO:0005700 chickenpox skos:exactMatch ICD10CM:B01 Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym varicella LEXMATCH -MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis LEXMATCH MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute nasopharyngitis LEXMATCH MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis LEXMATCH +MONDO:0005709 common cold skos:exactMatch ICD10CM:J00 Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis LEXMATCH MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia LEXMATCH MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecthyma contagiosum LEXMATCH MONDO:0005717 contagious pustular dermatitis skos:exactMatch ICD10CM:B08.02 Orf virus disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym contagious pustular dermatitis LEXMATCH -MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute obstructive laryngitis LEXMATCH MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute obstructive laryngitis LEXMATCH +MONDO:0005722 croup skos:exactMatch ICD10CM:J05.0 Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute obstructive laryngitis LEXMATCH MONDO:0005723 Cryptococcal meningitis skos:exactMatch ICD10CM:B45.1 Cerebral cryptococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryptococcal meningitis LEXMATCH MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch ICD10CM:A98.4 Ebola virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebola virus disorder LEXMATCH MONDO:0005739 echinostomiasis skos:exactMatch ICD10CM:B66.8 Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym echinostomiasis LEXMATCH @@ -731,32 +730,32 @@ MONDO:0005757 eumycotic mycetoma skos:exactMatch ICD10CM:B47.0 Eumycetoma semapv MONDO:0005757 eumycotic mycetoma skos:exactMatch ICD10CM:B47.0 Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eumycetoma LEXMATCH MONDO:0005761 filarial elephantiasis skos:exactMatch ICD10CM:H02.85 Elephantiasis of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label elephantiasis of eyelid LEXMATCH MONDO:0005761 filarial elephantiasis skos:exactMatch ICD10CM:B74.0 Filariasis due to Wuchereria bancrofti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bancroftian elephantiasis LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH +MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch ICD10CM:A18.3 Tuberculosis of intestines, peritoneum and mesenteric glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of intestines, peritoneum and mesenteric glands LEXMATCH MONDO:0005779 hand, foot and mouth disease skos:exactMatch ICD10CM:B08.4 Enteroviral vesicular stomatitis with exanthem semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hand, foot and mouth disorder LEXMATCH MONDO:0005791 herpangina skos:exactMatch ICD10CM:B08.5 Enteroviral vesicular pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpangina LEXMATCH -MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.03 Abscess of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym furuncle of eyelid LEXMATCH MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.01 Hordeolum externum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stye LEXMATCH +MONDO:0005800 hordeolum skos:exactMatch ICD10CM:H00.03 Abscess of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym furuncle of eyelid LEXMATCH MONDO:0005806 hypopharynx cancer skos:exactMatch ICD10CM:C13.2 Malignant neoplasm of posterior wall of hypopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of hypopharynx LEXMATCH MONDO:0005808 inclusion conjunctivitis skos:exactMatch ICD10CM:A71 Trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trachoma LEXMATCH MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10CM:B27.0 Gammaherpesviral mononucleosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gammaherpesviral mononucleosis LEXMATCH MONDO:0005810 infectious mononucleosis skos:exactMatch ICD10CM:B27 Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis LEXMATCH -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH +MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interdigitating dendritic cell sarcoma LEXMATCH MONDO:0005824 Legionnaires' disease skos:exactMatch ICD10CM:A48.1 Legionnaires' disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legionnaires' disorder LEXMATCH MONDO:0005826 lipid pneumonia skos:exactMatch ICD10CM:J69.1 Pneumonitis due to inhalation of oils and essences semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exogenous lipoid pneumonia LEXMATCH -MONDO:0005829 louping ill skos:exactMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym louping ill LEXMATCH MONDO:0005829 louping ill skos:exactMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym louping ill LEXMATCH +MONDO:0005829 louping ill skos:exactMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym louping ill LEXMATCH MONDO:0005831 lymph node tuberculosis skos:exactMatch ICD10CM:A18.2 Tuberculous peripheral lymphadenopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous adenitis LEXMATCH -MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale LEXMATCH -MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder LEXMATCH MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym climatic or tropical bubo LEXMATCH -MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible LEXMATCH -MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone LEXMATCH +MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder LEXMATCH +MONDO:0005834 lymphogranuloma venereum skos:exactMatch ICD10CM:A55 Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale LEXMATCH MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of inferior maxilla LEXMATCH -MONDO:0005845 meningoencephalitis skos:exactMatch ICD10CM:G04 Encephalitis, myelitis and encephalomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis LEXMATCH +MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone LEXMATCH +MONDO:0005837 mandibular cancer skos:exactMatch ICD10CM:C41.1 Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible LEXMATCH MONDO:0005845 meningoencephalitis skos:exactMatch ICD10CM:A69.22 Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis LEXMATCH +MONDO:0005845 meningoencephalitis skos:exactMatch ICD10CM:G04 Encephalitis, myelitis and encephalomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis LEXMATCH MONDO:0005846 microsporidiosis skos:exactMatch ICD10CM:B60.8 Other specified protozoal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microsporidiosis LEXMATCH MONDO:0005851 Miller Fisher syndrome skos:exactMatch ICD10CM:G61.0 Guillain-Barre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miller fisher syndrome LEXMATCH MONDO:0005854 mixed connective tissue disease skos:exactMatch ICD10CM:M35.1 Other overlap syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed connective tissue disorder LEXMATCH @@ -764,8 +763,8 @@ MONDO:0005864 muscle cancer skos:exactMatch ICD10CM:C49 Malignant neoplasm of ot MONDO:0005866 mycobacterium avium complex disease skos:exactMatch ICD10CM:A31.0 Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch ICD10CM:J15.7 Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae LEXMATCH MONDO:0005881 oligohydramnios skos:exactMatch ICD10CM:O41.0 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios LEXMATCH -MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis LEXMATCH MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis LEXMATCH +MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis LEXMATCH MONDO:0005890 osteitis fibrosa skos:exactMatch ICD10CM:E21.0 Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis fibrosa cystica generalisata LEXMATCH MONDO:0005898 paronychia skos:exactMatch ICD10CM:L03.0 Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paronychia LEXMATCH MONDO:0005898 paronychia skos:exactMatch ICD10CM:L03.0 Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paronychia LEXMATCH @@ -783,14 +782,14 @@ MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78 Strongyloidiasis sema MONDO:0005974 strongyloidiasis skos:exactMatch ICD10CM:B78.7 Disseminated strongyloidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disseminated strongyloidiasis LEXMATCH MONDO:0005976 syphilis skos:exactMatch ICD10CM:A52.3 Neurosyphilis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym syphilis LEXMATCH MONDO:0005979 thoracic outlet syndrome skos:exactMatch ICD10CM:G54.0 Brachial plexus disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thoracic outlet syndrome LEXMATCH -MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxocariasis LEXMATCH MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visceral larva migrans LEXMATCH -MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J04.2 Acute laryngotracheitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tracheitis LEXMATCH +MONDO:0005988 toxocariasis skos:exactMatch ICD10CM:B83.0 Visceral larva migrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxocariasis LEXMATCH MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J42 Unspecified chronic bronchitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic tracheitis LEXMATCH +MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J04.2 Acute laryngotracheitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tracheitis LEXMATCH MONDO:0006001 urinary schistosomiasis skos:exactMatch ICD10CM:B65.0 Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schistosomiasis due to schistosoma haematobium LEXMATCH MONDO:0006001 urinary schistosomiasis skos:exactMatch ICD10CM:B65.0 Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosomiasis due to schistosoma haematobium LEXMATCH -MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prinzmetal angina LEXMATCH MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina LEXMATCH +MONDO:0006021 Prinzmetal angina skos:exactMatch ICD10CM:I20.1 Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prinzmetal angina LEXMATCH MONDO:0006022 acidosis disorder skos:exactMatch ICD10CM:E87.2 Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis LEXMATCH MONDO:0006031 chronic rhinosinusitis skos:exactMatch ICD10CM:J32 Chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic sinusitis LEXMATCH MONDO:0006032 cystitis skos:exactMatch ICD10CM:N30 Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis LEXMATCH @@ -804,11 +803,11 @@ MONDO:0006237 granulocytic sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma MONDO:0006237 granulocytic sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma LEXMATCH MONDO:0006241 hepatic granuloma skos:exactMatch ICD10CM:D86.89 Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic granuloma LEXMATCH MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch ICD10CM:D05.0 Lobular carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lobular carcinoma in situ of breast LEXMATCH -MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33 Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp LEXMATCH MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33.0 Polyp of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of nasal cavity LEXMATCH +MONDO:0006314 nasal cavity polyp skos:exactMatch ICD10CM:J33 Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp LEXMATCH MONDO:0006354 parathyroid hyperplasia skos:exactMatch ICD10CM:E21.0 Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperplasia of parathyroid LEXMATCH -MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of peritoneum LEXMATCH MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum LEXMATCH +MONDO:0006362 peritoneal mesothelioma skos:exactMatch ICD10CM:C45.1 Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of peritoneum LEXMATCH MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH MONDO:0006500 hemangioma skos:exactMatch ICD10CM:D18.0 Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemangioma LEXMATCH @@ -829,23 +828,23 @@ MONDO:0006585 neurodermatitis skos:exactMatch ICD10CM:L28.0 Lichen simplex chron MONDO:0006586 neurotic excoriation skos:exactMatch ICD10CM:L98.1 Factitial dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic excoriation LEXMATCH MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21 Seborrheic dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrheic dermatitis LEXMATCH MONDO:0006608 seborrheic dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH -MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.1 Seborrheic infantile dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrheic infantile dermatitis LEXMATCH MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label seborrhea capitis LEXMATCH MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.0 Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap LEXMATCH +MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch ICD10CM:L21.1 Seborrheic infantile dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrheic infantile dermatitis LEXMATCH MONDO:0006613 stromal corneal pigmentation skos:exactMatch ICD10CM:H18.06 Stromal corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stromal corneal pigmentations LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sneddon-wilkinson disorder LEXMATCH MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subcorneal pustular dermatitis LEXMATCH +MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch ICD10CM:L13.1 Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sneddon-wilkinson disorder LEXMATCH MONDO:0006624 overactive bladder skos:exactMatch ICD10CM:N32.81 Overactive bladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overactive bladder LEXMATCH MONDO:0006637 acute kidney tubular necrosis skos:exactMatch ICD10CM:N17.0 Acute kidney failure with tubular necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute tubular necrosis LEXMATCH MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch ICD10CM:H47.01 Ischemic optic neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ischemic optic neuropathy LEXMATCH MONDO:0006653 anthracosilicosis skos:exactMatch ICD10CM:J60 Coalworker's pneumoconiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anthracosilicosis LEXMATCH MONDO:0006654 anthracosis skos:exactMatch ICD10CM:J60 Coalworker's pneumoconiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anthracosis LEXMATCH -MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic meningitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic meningitis LEXMATCH MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aseptic meningitis LEXMATCH +MONDO:0006662 aseptic meningitis skos:exactMatch ICD10CM:G03.0 Nonpyogenic meningitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic meningitis LEXMATCH MONDO:0006664 atrial septal defect skos:exactMatch ICD10CM:Q21.1 Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect LEXMATCH MONDO:0006666 atrophy of thyroid skos:exactMatch ICD10CM:E03.4 Atrophy of thyroid (acquired) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophy of thyroid LEXMATCH -MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis LEXMATCH MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis LEXMATCH +MONDO:0006669 bacterial endocarditis skos:exactMatch ICD10CM:I33.0 Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis LEXMATCH MONDO:0006670 bacterial meningitis skos:exactMatch ICD10CM:G00 Bacterial meningitis, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial meningitis LEXMATCH MONDO:0006676 beriberi skos:exactMatch ICD10CM:E51.1 Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi LEXMATCH MONDO:0006676 beriberi skos:exactMatch ICD10CM:E51 Thiamine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thiamine deficiency LEXMATCH @@ -854,8 +853,8 @@ MONDO:0006688 byssinosis skos:exactMatch ICD10CM:J66.1 Flax-dressers' disease se MONDO:0006699 choledocholithiasis skos:exactMatch ICD10CM:K80.5 Calculus of bile duct without cholangitis or cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choledocholithiasis LEXMATCH MONDO:0006700 choroid cancer skos:exactMatch ICD10CM:C69.3 Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of choroid LEXMATCH MONDO:0006713 corneal neovascularization skos:exactMatch ICD10CM:H16.4 Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization LEXMATCH -MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis LEXMATCH MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis LEXMATCH +MONDO:0006721 de Quervain disease skos:exactMatch ICD10CM:M65.4 Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis LEXMATCH MONDO:0006723 denture stomatitis skos:exactMatch ICD10CM:K12.1 Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym denture stomatitis LEXMATCH MONDO:0006731 drug-induced akathisia skos:exactMatch ICD10CM:G25.71 Drug induced akathisia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006733 dry eye syndrome skos:exactMatch ICD10CM:H04.12 Dry eye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dry eye syndrome LEXMATCH @@ -863,8 +862,8 @@ MONDO:0006734 benign duodenal neoplasm skos:exactMatch ICD10CM:D13.2 Benign neop MONDO:0006744 endolymphatic hydrops skos:exactMatch ICD10CM:H81.0 Ménière's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym labyrinthine hydrops LEXMATCH MONDO:0006748 epilepsia partialis continua skos:exactMatch ICD10CM:G40.1 Localization-related (focal) (partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsia partialis continua LEXMATCH MONDO:0006783 hemopneumothorax skos:exactMatch ICD10CM:J94.2 Hemothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemopneumothorax LEXMATCH -MONDO:0006786 hepatic vein thrombosis skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic vein thrombosis LEXMATCH MONDO:0006786 hepatic vein thrombosis skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic vein thrombosis LEXMATCH +MONDO:0006786 hepatic vein thrombosis skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic vein thrombosis LEXMATCH MONDO:0006788 hydrophthalmos skos:exactMatch ICD10CM:Q15.0 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrophthalmos LEXMATCH MONDO:0006797 hypertensive retinopathy skos:exactMatch ICD10CM:H35.03 Hypertensive retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive retinopathy LEXMATCH MONDO:0006802 inappropriate ADH syndrome skos:exactMatch ICD10CM:E22.2 Syndrome of inappropriate secretion of antidiuretic hormone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndrome of inappropriate secretion of antidiuretic hormone LEXMATCH @@ -874,11 +873,11 @@ MONDO:0006815 jejunal cancer skos:exactMatch ICD10CM:C17.1 Malignant neoplasm of MONDO:0006820 kidney cortex necrosis skos:exactMatch ICD10CM:N17.1 Acute kidney failure with acute cortical necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cortical necrosis LEXMATCH MONDO:0006827 lateral medullary syndrome skos:exactMatch ICD10CM:G46.3 Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wallenberg syndrome LEXMATCH MONDO:0006830 leukoplakia of penis skos:exactMatch ICD10CM:N48.0 Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis LEXMATCH -MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.9 Malignant neoplasm of lip, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified LEXMATCH -MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.5 Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect LEXMATCH MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.4 Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect LEXMATCH -MONDO:0006835 lipoid nephrosis skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoid nephrosis LEXMATCH +MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.5 Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect LEXMATCH +MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00.9 Malignant neoplasm of lip, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified LEXMATCH MONDO:0006835 lipoid nephrosis skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoid nephrosis LEXMATCH +MONDO:0006835 lipoid nephrosis skos:exactMatch ICD10CM:N04 Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoid nephrosis LEXMATCH MONDO:0006840 lymphangiectasis skos:exactMatch ICD10CM:I89.0 Lymphedema, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangiectasis LEXMATCH MONDO:0006846 malignant hypertension skos:exactMatch ICD10CM:I16.1 Hypertensive emergency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive emergency LEXMATCH MONDO:0006851 meconium aspiration syndrome skos:exactMatch ICD10CM:P24.0 Meconium aspiration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium aspiration LEXMATCH @@ -887,8 +886,8 @@ MONDO:0006864 necrotizing sialometaplasia skos:exactMatch ICD10CM:K11.8 Other di MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trench mouth LEXMATCH MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincents angina LEXMATCH MONDO:0006875 ocular hypertension skos:exactMatch ICD10CM:H40.05 Ocular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension LEXMATCH -MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H46.0 Optic papillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic papillitis LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H47.11 Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure LEXMATCH +MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H46.0 Optic papillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic papillitis LEXMATCH MONDO:0006884 panophthalmitis skos:exactMatch ICD10CM:H44.01 Panophthalmitis (acute) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panophthalmitis LEXMATCH MONDO:0006896 peptic esophagitis skos:exactMatch ICD10CM:K21.00 Gastro-esophageal reflux disease with esophagitis, without bleeding semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflux esophagitis LEXMATCH MONDO:0006903 peroneal nerve paralysis skos:exactMatch ICD10CM:G57.3 Lesion of lateral popliteal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal nerve palsy LEXMATCH @@ -921,25 +920,25 @@ MONDO:0007099 familial visceral amyloidosis skos:exactMatch ICD10CM:E85.0 Non-ne MONDO:0007122 anisocoria skos:exactMatch ICD10CM:H57.02 Anisocoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisocoria LEXMATCH MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch ICD10CM:M48.1 Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis LEXMATCH MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch ICD10CM:M48.1 Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia cutis congenita LEXMATCH MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita LEXMATCH +MONDO:0007145 aplasia cutis congenita skos:exactMatch ICD10CM:Q84.8 Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia cutis congenita LEXMATCH MONDO:0007150 arcus senilis skos:exactMatch ICD10CM:H18.41 Arcus senilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arcus senilis LEXMATCH MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lown-ganong-levine syndrome LEXMATCH MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lown-ganong-levine syndrome LEXMATCH MONDO:0007243 Burkitt lymphoma skos:exactMatch ICD10CM:C83.7 Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatocellular carcinoma LEXMATCH +MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma LEXMATCH MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatocellular carcinoma LEXMATCH MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma LEXMATCH +MONDO:0007256 hepatocellular carcinoma skos:exactMatch ICD10CM:C22.0 Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatocellular carcinoma LEXMATCH MONDO:0007294 central core myopathy skos:exactMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central core disorder LEXMATCH MONDO:0007303 cervical rib disease skos:exactMatch ICD10CM:Q76.5 Cervical rib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical rib LEXMATCH -MONDO:0007315 cherubism skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cherubism LEXMATCH MONDO:0007315 cherubism skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cherubism LEXMATCH +MONDO:0007315 cherubism skos:exactMatch ICD10CM:M27.8 Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cherubism LEXMATCH MONDO:0007329 cirrhosis, familial skos:exactMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic cirrhosis LEXMATCH MONDO:0007340 cleidocranial dysplasia skos:exactMatch ICD10CM:Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleidocranial dysostosis LEXMATCH MONDO:0007342 clubfoot skos:exactMatch ICD10CM:Q66.0 Congenital talipes equinovarus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital talipes equinovarus LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:exactMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria LEXMATCH MONDO:0007369 hereditary coproporphyria skos:exactMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary coproporphyria LEXMATCH +MONDO:0007369 hereditary coproporphyria skos:exactMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria LEXMATCH MONDO:0007404 Cri-du-chat syndrome skos:exactMatch ICD10CM:Q93.4 Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri-du-chat syndrome LEXMATCH MONDO:0007404 Cri-du-chat syndrome skos:exactMatch ICD10CM:Q93.4 Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome LEXMATCH MONDO:0007405 Crouzon syndrome skos:exactMatch ICD10CM:Q75.1 Craniofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial dysostosis LEXMATCH @@ -948,63 +947,63 @@ MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglob MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia LEXMATCH MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary cryoglobulinemia LEXMATCH MONDO:0007417 Darier disease skos:exactMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis follicularis LEXMATCH -MONDO:0007430 dens evaginatus skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus LEXMATCH MONDO:0007430 dens evaginatus skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dens evaginatus LEXMATCH +MONDO:0007430 dens evaginatus skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus LEXMATCH MONDO:0007473 Duane retraction syndrome skos:exactMatch ICD10CM:H50.81 Duane's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duanes syndrome LEXMATCH MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beckwith-wiedemann syndrome LEXMATCH MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beckwith-wiedemann syndrome LEXMATCH MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch ICD10CM:E31.21 Multiple endocrine neoplasia [MEN] type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wermers syndrome LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camurati-engelmann syndrome LEXMATCH MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive diaphyseal dysplasia LEXMATCH -MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:L72.0 Epidermal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermal cyst LEXMATCH +MONDO:0007542 Camurati-Engelmann disease skos:exactMatch ICD10CM:Q78.3 Progressive diaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camurati-engelmann syndrome LEXMATCH MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:K09.8 Other cysts of oral region, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermoid cyst LEXMATCH +MONDO:0007547 epidermoid cysts skos:exactMatch ICD10CM:L72.0 Epidermal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermal cyst LEXMATCH MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch ICD10CM:D75.0 Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial erythrocytosis LEXMATCH MONDO:0007576 esophageal cancer skos:exactMatch ICD10CM:C15 Malignant neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of esophagus LEXMATCH -MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid arthritis with splenoadenomegaly and leukopenia LEXMATCH MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label feltys syndrome LEXMATCH +MONDO:0007603 Felty syndrome skos:exactMatch ICD10CM:M05.0 Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid arthritis with splenoadenomegaly and leukopenia LEXMATCH MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0007639 fundus albipunctatus skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary retinal dystrophy LEXMATCH -MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH +MONDO:0007650 MALT lymphoma skos:exactMatch ICD10CM:C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue LEXMATCH MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis LEXMATCH MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch ICD10CM:A81.82 Gerstmann-Sträussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007661 Tourette syndrome skos:exactMatch ICD10CM:F95.2 Tourette's disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tourettes syndrome LEXMATCH MONDO:0007686 gray platelet syndrome skos:exactMatch ICD10CM:D69.1 Qualitative platelet defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grey platelet syndrome LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holt-oram syndrome LEXMATCH MONDO:0007732 Holt-Oram syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holt-oram syndrome LEXMATCH -MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huntingtons disorder LEXMATCH +MONDO:0007732 Holt-Oram syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holt-oram syndrome LEXMATCH MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym huntingtons chorea LEXMATCH -MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia LEXMATCH +MONDO:0007739 Huntington disease skos:exactMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huntingtons disorder LEXMATCH MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia LEXMATCH -MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpigmentation of eyelid LEXMATCH +MONDO:0007752 hyperheparinemia skos:exactMatch ICD10CM:D68.32 Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia LEXMATCH MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid LEXMATCH -MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondroplasia LEXMATCH +MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch ICD10CM:H02.71 Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpigmentation of eyelid LEXMATCH MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia LEXMATCH +MONDO:0007793 hypochondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondroplasia LEXMATCH MONDO:0007827 inclusion body myositis skos:exactMatch ICD10CM:G72.41 Inclusion body myositis [IBM] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome LEXMATCH MONDO:0007863 Kleine-Levin syndrome skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kleine-levin syndrome LEXMATCH +MONDO:0007863 Kleine-Levin syndrome skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome LEXMATCH MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-trenaunay-weber syndrome LEXMATCH MONDO:0007869 Kyrle disease skos:exactMatch ICD10CM:L87.0 Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kyrle disorder LEXMATCH MONDO:0007869 Kyrle disease skos:exactMatch ICD10CM:L87.0 Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kyrle disorder LEXMATCH +MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91 Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis LEXMATCH MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91.3 Pseudocoxalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudocoxalgia LEXMATCH MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91.2 Coxa plana semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coxa plana LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch ICD10CM:M91 Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis LEXMATCH MONDO:0007886 uterine corpus leiomyoma skos:exactMatch ICD10CM:D25 Leiomyoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine fibroid LEXMATCH MONDO:0007896 acute monocytic leukemia skos:exactMatch ICD10CM:C93.0 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 LEXMATCH MONDO:0007915 systemic lupus erythematosus skos:exactMatch ICD10CM:M32 Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic lupus erythematosus LEXMATCH MONDO:0007915 systemic lupus erythematosus skos:exactMatch ICD10CM:M32 Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic lupus erythematosus LEXMATCH MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch ICD10CM:E71.440 Ruvalcaba-Myhre-Smith syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruvalcaba-myhre-smith syndrome LEXMATCH MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch ICD10CM:D46.C Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelodysplastic syndrome with type 5q deletion LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome LEXMATCH MONDO:0007946 jaw-winking syndrome skos:exactMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jaw-winking syndrome LEXMATCH +MONDO:0007946 jaw-winking syndrome skos:exactMatch ICD10CM:Q07.8 Other specified congenital malformations of nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome LEXMATCH MONDO:0007947 Marfan syndrome skos:exactMatch ICD10CM:Q87.4 Marfan's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfans syndrome LEXMATCH -MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct LEXMATCH MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckels diverticulum LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH +MONDO:0007955 Meckel diverticulum skos:exactMatch ICD10CM:Q43.0 Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct LEXMATCH MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome LEXMATCH +MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH MONDO:0007972 Meniere disease skos:exactMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo LEXMATCH MONDO:0008007 tooth ankylosis skos:exactMatch ICD10CM:K03.5 Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth LEXMATCH MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix LEXMATCH @@ -1018,28 +1017,28 @@ MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic MONDO:0008061 nail-patella syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nail patella syndrome LEXMATCH MONDO:0008075 schwannomatosis skos:exactMatch ICD10CM:Q85.03 Schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwannomatosis LEXMATCH MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cyclic hematopoiesis LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodic neutropenia LEXMATCH MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cyclic hematopoiesis LEXMATCH +MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodic neutropenia LEXMATCH MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anancastic neurosis LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH +MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH MONDO:0008145 Ollier disease skos:exactMatch ICD10CM:Q78.4 Enchondromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olliers disorder LEXMATCH MONDO:0008170 ovarian cancer skos:exactMatch ICD10CM:C56 Malignant neoplasm of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ovary LEXMATCH MONDO:0008171 nephrolithiasis skos:exactMatch ICD10CM:N20 Calculus of kidney and ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of kidney and ureter LEXMATCH MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paramyotonia congenita LEXMATCH MONDO:0008213 pectus excavatum skos:exactMatch ICD10CM:Q67.6 Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis LEXMATCH MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperkalemic periodic paralysis LEXMATCH MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch ICD10CM:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperkalemic periodic paralysis LEXMATCH MONDO:0008228 pernicious anemia skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biermer anemia LEXMATCH MONDO:0008231 Peyronie disease skos:exactMatch ICD10CM:N48.6 Induration penis plastica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peyronies disorder LEXMATCH -MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym piebaldism LEXMATCH MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism LEXMATCH +MONDO:0008244 piebaldism skos:exactMatch ICD10CM:E70.39 Other specified albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym piebaldism LEXMATCH MONDO:0008262 Poland syndrome skos:exactMatch ICD10CM:Q79.8 Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poland syndrome LEXMATCH MONDO:0008262 Poland syndrome skos:exactMatch ICD10CM:Q79.8 Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym poland syndrome LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH +MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peutz-jeghers syndrome LEXMATCH MONDO:0008300 Prader-Willi syndrome skos:exactMatch ICD10CM:Q87.11 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome LEXMATCH MONDO:0008315 prostate cancer skos:exactMatch ICD10CM:C61 Malignant neoplasm of prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prostate LEXMATCH MONDO:0008320 Protrusio acetabuli skos:exactMatch ICD10CM:M24.7 Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli LEXMATCH @@ -1048,16 +1047,16 @@ MONDO:0008346 pulmonary hemosiderosis skos:exactMatch ICD10CM:J84.03 Idiopathic MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy LEXMATCH MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy LEXMATCH MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch ICD10CM:O26.86 Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy LEXMATCH -MONDO:0008354 purpura simplex skos:exactMatch ICD10CM:D69.2 Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura simplex LEXMATCH MONDO:0008354 purpura simplex skos:exactMatch ICD10CM:D69.2 Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura simplex LEXMATCH +MONDO:0008354 purpura simplex skos:exactMatch ICD10CM:D69.2 Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura simplex LEXMATCH MONDO:0008388 ringed hair disease skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili annulati LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roussy-levy syndrome LEXMATCH MONDO:0008392 Roussy-Levy syndrome skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roussy-levy syndrome LEXMATCH +MONDO:0008392 Roussy-Levy syndrome skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roussy-levy syndrome LEXMATCH MONDO:0008394 Silver-Russell syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome LEXMATCH -MONDO:0008410 Scheuermann disease skos:exactMatch ICD10CM:M42.0 Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scheuermanns disorder LEXMATCH MONDO:0008410 Scheuermann disease skos:exactMatch ICD10CM:M42.0 Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of spine LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smith-magenis syndrome LEXMATCH +MONDO:0008410 Scheuermann disease skos:exactMatch ICD10CM:M42.0 Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scheuermanns disorder LEXMATCH MONDO:0008434 Smith-Magenis syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym smith-magenis syndrome LEXMATCH +MONDO:0008434 Smith-Magenis syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smith-magenis syndrome LEXMATCH MONDO:0008449 spina bifida skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida LEXMATCH MONDO:0008475 spondylolisthesis skos:exactMatch ICD10CM:M43.1 Spondylolisthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolisthesis LEXMATCH MONDO:0008485 sebocystomatosis skos:exactMatch ICD10CM:L72.2 Steatocystoma multiplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label steatocystoma multiplex LEXMATCH @@ -1079,21 +1078,21 @@ MONDO:0008633 Muckle-Wells syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-asso MONDO:0008633 Muckle-Wells syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym muckle-wells syndrome LEXMATCH MONDO:0008667 von Hippel-Lindau disease skos:exactMatch ICD10CM:Q85.8 Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von hippel-lindau syndrome LEXMATCH MONDO:0008678 Williams syndrome skos:exactMatch ICD10CM:Q93.82 Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams syndrome LEXMATCH -MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anomalous atrioventricular excitation LEXMATCH -MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolff-parkinson-white syndrome LEXMATCH MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome LEXMATCH +MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolff-parkinson-white syndrome LEXMATCH +MONDO:0008685 Wolff-Parkinson-white syndrome skos:exactMatch ICD10CM:I45.6 Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anomalous atrioventricular excitation LEXMATCH MONDO:0008692 abetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abetalipoproteinemia LEXMATCH MONDO:0008692 abetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abetalipoproteinemia LEXMATCH MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia of cardia LEXMATCH MONDO:0008698 achalasia skos:exactMatch ICD10CM:K22.0 Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiospasm LEXMATCH MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch ICD10CM:E83.39 Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid phosphatase deficiency LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:exactMatch ICD10CM:E83.2 Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica LEXMATCH MONDO:0008713 acrodermatitis enteropathica skos:exactMatch ICD10CM:E83.2 Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrodermatitis enteropathica LEXMATCH +MONDO:0008713 acrodermatitis enteropathica skos:exactMatch ICD10CM:E83.2 Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica LEXMATCH MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.312 Short chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008737 congenital afibrinogenemia skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital afibrinogenemia LEXMATCH MONDO:0008740 agnathia-otocephaly complex skos:exactMatch ICD10CM:Q18.2 Other branchial cleft malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otocephaly LEXMATCH -MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria LEXMATCH MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria LEXMATCH +MONDO:0008753 alkaptonuria skos:exactMatch ICD10CM:E70.29 Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria LEXMATCH MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch ICD10CM:G31.81 Alpers disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers disorder LEXMATCH MONDO:0008783 Tangier disease skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tangier disorder LEXMATCH MONDO:0008783 Tangier disease skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tangier disorder LEXMATCH @@ -1102,65 +1101,65 @@ MONDO:0008814 hyperargininemia skos:exactMatch ICD10CM:E72.21 Argininemia semapv MONDO:0008829 chylous ascites skos:exactMatch ICD10CM:I89.8 Other specified noninfective disorders of lymphatic vessels and lymph nodes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylous ascites LEXMATCH MONDO:0008830 aspartylglucosaminuria skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspartylglucosaminuria LEXMATCH MONDO:0008830 aspartylglucosaminuria skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:exactMatch ICD10CM:G11.3 Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxia telangiectasia LEXMATCH MONDO:0008840 ataxia telangiectasia skos:exactMatch ICD10CM:G11.3 Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia telangiectasia LEXMATCH +MONDO:0008840 ataxia telangiectasia skos:exactMatch ICD10CM:G11.3 Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxia telangiectasia LEXMATCH MONDO:0008867 biliary atresia skos:exactMatch ICD10CM:Q44.2 Atresia of bile ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of bile ducts LEXMATCH MONDO:0008889 thromboangiitis obliterans skos:exactMatch ICD10CM:I73.1 Thromboangiitis obliterans [Buerger's disease] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thromboangiitis obliterans LEXMATCH MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch ICD10CM:E71.41 Primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary carnitine deficiency LEXMATCH MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch ICD10CM:G11.19 Other early-onset cerebellar ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset cerebellar ataxia with retained tendon reflexes LEXMATCH MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch ICD10CM:H31.22 Choroidal dystrophy (central areolar) (generalized) (peripapillary) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal dystrophy LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia LEXMATCH +MONDO:0009009 hypoplasminogenemia skos:exactMatch ICD10CM:E88.02 Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia LEXMATCH MONDO:0009010 aortic arch interruption skos:exactMatch ICD10CM:Q25.21 Interruption of aortic arch semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009016 band keratopathy skos:exactMatch ICD10CM:H18.42 Band keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label band keratopathy LEXMATCH MONDO:0009022 corpus callosum, agenesis of skos:exactMatch ICD10CM:Q04.0 Congenital malformations of corpus callosum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of corpus callosum LEXMATCH -MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria LEXMATCH MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria LEXMATCH +MONDO:0009058 cystathioninuria skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria LEXMATCH MONDO:0009067 cystinuria skos:exactMatch ICD10CM:E72.01 Cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka LEXMATCH MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dandy-walker syndrome LEXMATCH MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dandy-walker syndrome LEXMATCH +MONDO:0009072 Dandy-Walker syndrome skos:exactMatch ICD10CM:Q03.1 Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka LEXMATCH MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch ICD10CM:E74.31 Sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sucrase-isomaltase deficiency LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome LEXMATCH MONDO:0009124 Dubowitz syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubowitz syndrome LEXMATCH +MONDO:0009124 Dubowitz syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome LEXMATCH MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dysautonomia LEXMATCH MONDO:0009131 Riley-Day syndrome skos:exactMatch ICD10CM:G90.1 Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia LEXMATCH MONDO:0009144 Ebstein anomaly skos:exactMatch ICD10CM:Q22.5 Ebstein's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebsteins anomaly LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH +MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondroectodermal dysplasia LEXMATCH MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch ICD10CM:Q81.1 Epidermolysis bullosa letalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa letalis LEXMATCH MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch ICD10CM:D60.1 Transient acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient acquired pure red cell aplasia LEXMATCH MONDO:0009210 congenital factor V deficiency skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proaccelerin deficiency LEXMATCH MONDO:0009211 congenital factor VII deficiency skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproconvertinemia LEXMATCH -MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis LEXMATCH MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fucosidosis LEXMATCH -MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency LEXMATCH +MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis LEXMATCH MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency LEXMATCH +MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency LEXMATCH MONDO:0009275 neonatal hemochromatosis skos:exactMatch ICD10CM:P78.84 Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis LEXMATCH MONDO:0009290 glycogen storage disease II skos:exactMatch ICD10CM:E74.02 Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disorder LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disorder LEXMATCH MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disorder LEXMATCH +MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disorder LEXMATCH MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andersen disorder LEXMATCH MONDO:0009293 glycogen storage disease V skos:exactMatch ICD10CM:E74.04 McArdle disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcardle disorder LEXMATCH MONDO:0009294 glycogen storage disease VI skos:exactMatch ICD10CM:E74.09 Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disorder LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hallervorden-spatz disorder LEXMATCH MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmentary pallidal degeneration LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubin-johnson syndrome LEXMATCH +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch ICD10CM:G23.0 Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hallervorden-spatz disorder LEXMATCH MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubin-johnson syndrome LEXMATCH -MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH +MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch ICD10CM:E80.6 Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubin-johnson syndrome LEXMATCH MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia LEXMATCH +MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperleucine-isoleucinemia LEXMATCH MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed hyperglyceridemia LEXMATCH +MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia LEXMATCH MONDO:0009388 hyperlysinemia skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlysinemia LEXMATCH MONDO:0009388 hyperlysinemia skos:exactMatch ICD10CM:E72.3 Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlysinemia LEXMATCH MONDO:0009451 Nezelof syndrome skos:exactMatch ICD10CM:D81.4 Nezelof's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nezelofs syndrome LEXMATCH MONDO:0009468 pseudotumor cerebri skos:exactMatch ICD10CM:G93.2 Benign intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign intracranial hypertension LEXMATCH MONDO:0009476 atresia of small intestine skos:exactMatch ICD10CM:Q41.1 Congenital absence, atresia and stenosis of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apple peel syndrome LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome LEXMATCH MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome LEXMATCH -MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym letterer-siwe disorder LEXMATCH +MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch ICD10CM:G40.8 Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome LEXMATCH MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym letterer-siwe disorder LEXMATCH +MONDO:0009519 letterer-Siwe disease skos:exactMatch ICD10CM:C96.0 Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym letterer-siwe disorder LEXMATCH MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disorder LEXMATCH MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chylomicron retention disorder LEXMATCH MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome LEXMATCH @@ -1168,8 +1167,8 @@ MONDO:0009650 mucolipidosis type II skos:exactMatch ICD10CM:E77.0 Defects in pos MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a LEXMATCH MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b LEXMATCH MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH +MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency LEXMATCH MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis LEXMATCH MONDO:0009692 primary myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis LEXMATCH MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch ICD10CM:G40.B Juvenile myoclonic epilepsy [impulsive petit mal] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy LEXMATCH @@ -1179,47 +1178,47 @@ MONDO:0009755 neutrophil actin dysfunction skos:exactMatch ICD10CM:D22 Melanocyt MONDO:0009756 Niemann-Pick disease type A skos:exactMatch ICD10CM:E75.240 Niemann-Pick disease type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disorder type a LEXMATCH MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cross syndrome LEXMATCH MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch ICD10CM:M86.3 Chronic multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic multifocal osteomyelitis LEXMATCH -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.1 Malignant neoplasm of body of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of pancreas LEXMATCH MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.2 Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas LEXMATCH -MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.0 Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas LEXMATCH MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25 Malignant neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pancreas LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.0 Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas LEXMATCH +MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch ICD10CM:C25.1 Malignant neoplasm of body of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of pancreas LEXMATCH MONDO:0009846 pentosuria skos:exactMatch ICD10CM:E74.89 Other specified disorders of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential pentosuria LEXMATCH MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency LEXMATCH MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.115 Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disorder LEXMATCH MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.117 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia LEXMATCH MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital poikiloderma LEXMATCH -MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia LEXMATCH MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia LEXMATCH +MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia LEXMATCH MONDO:0010011 schizencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schizencephaly LEXMATCH MONDO:0010011 schizencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizencephaly LEXMATCH MONDO:0010030 Sjogren syndrome skos:exactMatch ICD10CM:M35.0 Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sicca syndrome LEXMATCH +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria LEXMATCH MONDO:0010085 Schilder disease skos:exactMatch ICD10CM:G37.0 Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilders disorder LEXMATCH MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency LEXMATCH MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia LEXMATCH MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia LEXMATCH -MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism LEXMATCH MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym taurodontism LEXMATCH +MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism LEXMATCH MONDO:0010138 thyrotoxicosis skos:exactMatch ICD10CM:E05 Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxicosis LEXMATCH -MONDO:0010193 Weaver syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome LEXMATCH MONDO:0010193 Weaver syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weaver syndrome LEXMATCH +MONDO:0010193 Weaver syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome LEXMATCH MONDO:0010200 Wilson disease skos:exactMatch ICD10CM:E83.01 Wilson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wilsons disorder LEXMATCH MONDO:0010229 alopecia, congenital skos:exactMatch ICD10CM:Q84.0 Congenital alopecia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alopecia LEXMATCH MONDO:0010269 Coats disease skos:exactMatch ICD10CM:H35.02 Exudative retinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative retinopathy LEXMATCH -MONDO:0010383 fragile X syndrome skos:exactMatch ICD10CM:Q99.2 Fragile X chromosome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fragile x syndrome LEXMATCH MONDO:0010383 fragile X syndrome skos:exactMatch ICD10CM:Q99.2 Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome LEXMATCH +MONDO:0010383 fragile X syndrome skos:exactMatch ICD10CM:Q99.2 Fragile X chromosome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fragile x syndrome LEXMATCH MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch ICD10CM:D80.0 Hereditary hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked agammaglobulinemia LEXMATCH +MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia a LEXMATCH MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor viii deficiency LEXMATCH MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia a LEXMATCH -MONDO:0010602 hemophilia A skos:exactMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia a LEXMATCH -MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia b LEXMATCH +MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b LEXMATCH MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency LEXMATCH -MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder LEXMATCH +MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency LEXMATCH MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch ICD10CM:Q80.1 X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis LEXMATCH MONDO:0010631 incontinentia pigmenti skos:exactMatch ICD10CM:Q82.3 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti LEXMATCH MONDO:0010683 X-linked centronuclear myopathy skos:exactMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy LEXMATCH @@ -1236,24 +1235,24 @@ MONDO:0011182 trimethylaminuria skos:exactMatch ICD10CM:E72.52 Trimethylaminuria MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch ICD10CM:M48.8 Other specified spondylopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ossification of posterior longitudinal ligament LEXMATCH MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic myopathy LEXMATCH MONDO:0011284 astigmatism skos:exactMatch ICD10CM:H52.2 Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism LEXMATCH +MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.20 Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis LEXMATCH MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.2 Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disorder LEXMATCH MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.1 Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disorder without crisis LEXMATCH -MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.20 Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis LEXMATCH -MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peters anomaly LEXMATCH MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly LEXMATCH +MONDO:0011414 Peters anomaly skos:exactMatch ICD10CM:Q13.4 Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peters anomaly LEXMATCH MONDO:0011438 acne skos:exactMatch ICD10CM:L70.0 Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris LEXMATCH -MONDO:0011438 acne skos:exactMatch ICD10CM:L70 Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne LEXMATCH MONDO:0011438 acne skos:exactMatch ICD10CM:L70.2 Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis LEXMATCH +MONDO:0011438 acne skos:exactMatch ICD10CM:L70 Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne LEXMATCH MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch ICD10CM:G90.5 Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex regional pain syndrome i LEXMATCH MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch ICD10CM:G90.5 Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflex sympathetic dystrophy LEXMATCH MONDO:0011565 metabolic syndrome X skos:exactMatch ICD10CM:E88.81 Metabolic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysmetabolic syndrome x LEXMATCH MONDO:0011612 glycine encephalopathy skos:exactMatch ICD10CM:E72.51 Non-ketotic hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-ketotic hyperglycinemia LEXMATCH +MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis LEXMATCH MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pars planitis LEXMATCH MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis LEXMATCH -MONDO:0011644 pars planitis skos:exactMatch ICD10CM:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis LEXMATCH MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch ICD10CM:C49.A Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal stromal tumor LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch ICD10CM:E74.39 Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucose-galactose malabsorption LEXMATCH MONDO:0011731 glucose-galactose malabsorption skos:exactMatch ICD10CM:E74.39 Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucose-galactose malabsorption LEXMATCH +MONDO:0011731 glucose-galactose malabsorption skos:exactMatch ICD10CM:E74.39 Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucose-galactose malabsorption LEXMATCH MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch ICD10CM:E76.02 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler-scheie syndrome LEXMATCH MONDO:0011849 psoriatic arthritis skos:exactMatch ICD10CM:L40.5 Arthropathic psoriasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthropathic psoriasis LEXMATCH MONDO:0011876 juvenile absence epilepsy skos:exactMatch ICD10CM:G40.A Absence epileptic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile absence epilepsy LEXMATCH @@ -1263,8 +1262,8 @@ MONDO:0011962 endometrial cancer skos:exactMatch ICD10CM:C54.1 Malignant neoplas MONDO:0012038 speech-sound disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym speech-sound disorder LEXMATCH MONDO:0012038 speech-sound disorder skos:exactMatch ICD10CM:F80.0 Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-sound disorder LEXMATCH MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch ICD10CM:E70.81 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatic l-amino acid decarboxylase deficiency LEXMATCH -MONDO:0012316 Majeed syndrome skos:exactMatch ICD10CM:M04.8 Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym majeed syndrome LEXMATCH MONDO:0012316 Majeed syndrome skos:exactMatch ICD10CM:M04.8 Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym majeed syndrome LEXMATCH +MONDO:0012316 Majeed syndrome skos:exactMatch ICD10CM:M04.8 Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym majeed syndrome LEXMATCH MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80 Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis LEXMATCH MONDO:0012672 cholelithiasis skos:exactMatch ICD10CM:K80.2 Calculus of gallbladder without cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholelithiasis LEXMATCH MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch ICD10CM:M30.3 Mucocutaneous lymph node syndrome [Kawasaki] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous lymph node syndrome LEXMATCH @@ -1286,8 +1285,8 @@ MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.7 Barrett's esophagu MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.7 Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barretts syndrome LEXMATCH MONDO:0013662 Barrett esophagus skos:exactMatch ICD10CM:K22.1 Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis LEXMATCH MONDO:0013730 graft versus host disease skos:exactMatch ICD10CM:D89.81 Graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency LEXMATCH MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency LEXMATCH +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch ICD10CM:D81.32 Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency LEXMATCH MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch ICD10CM:E88.09 Other disorders of plasma-protein metabolism, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bisalbuminemia LEXMATCH MONDO:0014452 familial dysfibrinogenemia skos:exactMatch ICD10CM:D68.2 Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysfibrinogenemia LEXMATCH MONDO:0014624 Brown syndrome skos:exactMatch ICD10CM:H50.61 Brown's sheath syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label browns sheath syndrome LEXMATCH @@ -1295,11 +1294,11 @@ MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoprol MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder LEXMATCH MONDO:0015045 alpha-heavy chain disease skos:exactMatch ICD10CM:C88.3 Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha heavy chain disorder LEXMATCH MONDO:0015104 porphyria cutanea tarda skos:exactMatch ICD10CM:E80.1 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder LEXMATCH MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis LEXMATCH +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder LEXMATCH MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch ICD10CM:E27.1 Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary adrenocortical insufficiency LEXMATCH -MONDO:0015134 constitutional neutropenia skos:exactMatch ICD10CM:D70.0 Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia LEXMATCH MONDO:0015134 constitutional neutropenia skos:exactMatch ICD10CM:D70.0 Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile genetic agranulocytosis LEXMATCH +MONDO:0015134 constitutional neutropenia skos:exactMatch ICD10CM:D70.0 Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia LEXMATCH MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch ICD10CM:Q74.3 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita LEXMATCH MONDO:0015231 Bartter syndrome skos:exactMatch ICD10CM:E26.81 Bartter's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartters syndrome LEXMATCH MONDO:0015254 schistosomiasis skos:exactMatch ICD10CM:B65 Schistosomiasis [bilharziasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis LEXMATCH @@ -1315,8 +1314,8 @@ MONDO:0015397 oculo-auriculo-vertebral spectrum skos:exactMatch ICD10CM:Q87.0 Co MONDO:0015450 triatrial heart skos:exactMatch ICD10CM:Q24.2 Cor triatriatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor triatriatum LEXMATCH MONDO:0015453 Cogan syndrome skos:exactMatch ICD10CM:H16.32 Diffuse interstitial keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cogans syndrome LEXMATCH MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.819 Biotin-dependent carboxylase deficiency, unspecified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.81 Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple carboxylase deficiency LEXMATCH +MONDO:0015454 multiple carboxylase deficiency skos:exactMatch ICD10CM:D81.819 Biotin-dependent carboxylase deficiency, unspecified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015483 mandibulofacial dysostosis skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis LEXMATCH MONDO:0015486 keratoconus skos:exactMatch ICD10CM:H18.6 Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus LEXMATCH MONDO:0015496 macroglossia skos:exactMatch ICD10CM:Q38.2 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia LEXMATCH @@ -1325,15 +1324,15 @@ MONDO:0015517 common variable immunodeficiency skos:exactMatch ICD10CM:D83 Commo MONDO:0015540 hemophagocytic syndrome skos:exactMatch ICD10CM:D76.1 Hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemophagocytic lymphohistiocytosis LEXMATCH MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch ICD10CM:D47.02 Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated bone marrow mastocytosis LEXMATCH MONDO:0015613 dentin dysplasia skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinal dysplasia LEXMATCH +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy LEXMATCH MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder LEXMATCH MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disorder LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy LEXMATCH MONDO:0015636 dirofilariasis skos:exactMatch ICD10CM:B74.8 Other filariases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dirofilariasis LEXMATCH MONDO:0015661 dextrocardia skos:exactMatch ICD10CM:Q24.0 Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia LEXMATCH +MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symbiotic psychosis LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hellers syndrome LEXMATCH MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dementia infantilis LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:exactMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis LEXMATCH MONDO:0015691 hypereosinophilic syndrome skos:exactMatch ICD10CM:D72.11 Hypereosinophilic syndrome [HES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome LEXMATCH MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym refractory anemia with excess blasts in transformation LEXMATCH MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive centronuclear myopathy LEXMATCH @@ -1372,14 +1371,14 @@ MONDO:0016344 hydranencephaly skos:exactMatch ICD10CM:Q04.3 Other reduction defo MONDO:0016367 dermatomyositis skos:exactMatch ICD10CM:M33 Dermatopolymyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermatopolymyositis LEXMATCH MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch ICD10CM:G52.1 Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glossopharyngeal neuralgia LEXMATCH MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch ICD10CM:G52.1 Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glossopharyngeal neuralgia LEXMATCH -MONDO:0016466 asbestosis skos:exactMatch ICD10CM:J61 Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis LEXMATCH MONDO:0016466 asbestosis skos:exactMatch ICD10CM:J61 Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis LEXMATCH -MONDO:0016486 beta-thalassemia major skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major LEXMATCH +MONDO:0016466 asbestosis skos:exactMatch ICD10CM:J61 Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis LEXMATCH MONDO:0016486 beta-thalassemia major skos:exactMatch ICD10CM:D56.9 Thalassemia, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean anemia LEXMATCH +MONDO:0016486 beta-thalassemia major skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major LEXMATCH MONDO:0016486 beta-thalassemia major skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cooleys anemia LEXMATCH MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch ICD10CM:G40.81 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lennox-gastaut syndrome LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sclerosing mesenteritis LEXMATCH MONDO:0016544 IgG4-related mesenteritis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric panniculitis LEXMATCH +MONDO:0016544 IgG4-related mesenteritis skos:exactMatch ICD10CM:K65.4 Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sclerosing mesenteritis LEXMATCH MONDO:0016567 locked-in syndrome skos:exactMatch ICD10CM:G83.5 Locked-in state semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label locked-in state LEXMATCH MONDO:0016586 systemic mastocytosis skos:exactMatch ICD10CM:D47.02 Systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic mastocytosis LEXMATCH MONDO:0016595 inhalational anthrax skos:exactMatch ICD10CM:A22.1 Pulmonary anthrax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary anthrax LEXMATCH @@ -1389,17 +1388,17 @@ MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch ICD10CM:M67.0 Short MONDO:0016761 spondyloepiphyseal dysplasia skos:exactMatch ICD10CM:Q77.7 Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia LEXMATCH MONDO:0016770 actinic lichen planus skos:exactMatch ICD10CM:L43.3 Subacute (active) lichen planus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lichen planus tropicus LEXMATCH MONDO:0016820 Moyamoya disease skos:exactMatch ICD10CM:I67.5 Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH +MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy LEXMATCH MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch ICD10CM:H20.81 Fuchs' heterochromic cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fuchs' heterochromic cyclitis LEXMATCH MONDO:0017069 spina bifida cystica skos:exactMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningomyelocele LEXMATCH MONDO:0017078 cephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele LEXMATCH -MONDO:0017079 meningoencephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele LEXMATCH MONDO:0017079 meningoencephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalocele LEXMATCH -MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancrum oris LEXMATCH +MONDO:0017079 meningoencephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele LEXMATCH MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noma LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary pulmonary arterial hypertension LEXMATCH +MONDO:0017124 noma skos:exactMatch ICD10CM:A69.0 Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancrum oris LEXMATCH MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic pulmonary arterial hypertension LEXMATCH +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary pulmonary arterial hypertension LEXMATCH MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heritable pulmonary arterial hypertension LEXMATCH MONDO:0017169 multiple endocrine neoplasia skos:exactMatch ICD10CM:E31.2 Multiple endocrine neoplasia [MEN] syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple endocrine adenomatosis LEXMATCH MONDO:0017178 osteochondritis dissecans skos:exactMatch ICD10CM:M93.2 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans LEXMATCH @@ -1413,10 +1412,10 @@ MONDO:0017276 frontotemporal dementia skos:exactMatch ICD10CM:G31.0 Frontotempor MONDO:0017304 ocular albinism skos:exactMatch ICD10CM:E70.31 Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism LEXMATCH MONDO:0017362 neuralgic amyotrophy skos:exactMatch ICD10CM:G54.5 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy LEXMATCH MONDO:0017373 poliomyelitis skos:exactMatch ICD10CM:A80 Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis LEXMATCH -MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder LEXMATCH MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive arthritis LEXMATCH MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis LEXMATCH MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.1 Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy LEXMATCH +MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder LEXMATCH MONDO:0017410 porencephaly skos:exactMatch ICD10CM:Q04.6 Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly LEXMATCH MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch ICD10CM:G14 Postpolio syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postpolio syndrome LEXMATCH MONDO:0017450 split foot skos:exactMatch ICD10CM:Q72.7 Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot LEXMATCH @@ -1431,13 +1430,13 @@ MONDO:0017734 sialidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein d MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoalphalipoproteinemia LEXMATCH MONDO:0017774 hypobetalipoproteinemia skos:exactMatch ICD10CM:E78.6 Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypobetalipoproteinemia LEXMATCH MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.1 Acute and fulminating melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute and fulminating melioidosis LEXMATCH -MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.9 Melioidosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym whitmores disorder LEXMATCH MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.2 Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis LEXMATCH +MONDO:0017775 melioidosis skos:exactMatch ICD10CM:A24.9 Melioidosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym whitmores disorder LEXMATCH MONDO:0017778 lamellar ichthyosis skos:exactMatch ICD10CM:Q80.2 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis LEXMATCH MONDO:0017858 acute erythroid leukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia LEXMATCH MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch ICD10CM:Q25.6 Stenosis of pulmonary artery semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supravalvular pulmonary stenosis LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch ICD10CM:A96.0 Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label junin hemorrhagic fever LEXMATCH MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch ICD10CM:A96.0 Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym argentinian hemorrhagic fever LEXMATCH +MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch ICD10CM:A96.0 Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label junin hemorrhagic fever LEXMATCH MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch ICD10CM:A96.1 Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bolivian hemorrhagic fever LEXMATCH MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch ICD10CM:A96.1 Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label machupo hemorrhagic fever LEXMATCH MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch ICD10CM:D89.82 Autoimmune lymphoproliferative syndrome [ALPS] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome LEXMATCH @@ -1447,14 +1446,14 @@ MONDO:0017991 Takayasu arteritis skos:exactMatch ICD10CM:M31.4 Aortic arch syndr MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch ICD10CM:E85.82 Wild-type transthyretin-related (ATTR) amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis LEXMATCH MONDO:0018025 chronic actinic dermatitis skos:exactMatch ICD10CM:L57.1 Actinic reticuloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic reticuloid LEXMATCH MONDO:0018044 idiopathic hypersomnia skos:exactMatch ICD10CM:F51.11 Primary hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypersomnia LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus LEXMATCH MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk LEXMATCH MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus LEXMATCH +MONDO:0018072 persistent truncus arteriosus skos:exactMatch ICD10CM:Q20.0 Common arterial trunk semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus LEXMATCH MONDO:0018088 familial Mediterranean fever skos:exactMatch ICD10CM:M04.1 Periodic fever syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever LEXMATCH MONDO:0018089 double outlet right ventricle skos:exactMatch ICD10CM:Q20.3 Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dextrotransposition of aorta LEXMATCH MONDO:0018090 double outlet left ventricle skos:exactMatch ICD10CM:Q20.2 Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H20.82 Vogt-Koyanagi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vogt-koyanagi syndrome LEXMATCH MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H30.81 Harada's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label haradas disorder LEXMATCH +MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch ICD10CM:H20.82 Vogt-Koyanagi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vogt-koyanagi syndrome LEXMATCH MONDO:0018097 West syndrome skos:exactMatch ICD10CM:G40.82 Epileptic spasms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile spasms LEXMATCH MONDO:0018106 hereditary xanthinuria skos:exactMatch ICD10CM:E79.8 Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary xanthinuria LEXMATCH MONDO:0018106 hereditary xanthinuria skos:exactMatch ICD10CM:E79.8 Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary xanthinuria LEXMATCH @@ -1466,14 +1465,14 @@ MONDO:0018301 interstitial cystitis skos:exactMatch ICD10CM:N30.1 Interstitial c MONDO:0018305 chronic granulomatous disease skos:exactMatch ICD10CM:D71 Functional disorders of polymorphonuclear neutrophils semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dysphagocytosis LEXMATCH MONDO:0018309 Hirschsprung disease skos:exactMatch ICD10CM:Q43.1 Hirschsprung's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hirschsprungs disorder LEXMATCH MONDO:0018362 persistent idiopathic facial pain skos:exactMatch ICD10CM:G50.1 Atypical facial pain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical facial pain LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.22 Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.21 Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.6 Juvenile osteochondrosis of tarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.1 Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.0 Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.4 Juvenile osteochondrosis of patella semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M91.0 Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.6 Juvenile osteochondrosis of tarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.21 Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.7 Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.22 Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M92.0 Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH +MONDO:0018381 osteochondrosis skos:exactMatch ICD10CM:M91.0 Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis LEXMATCH MONDO:0018382 epiphysiolysis of the hip skos:exactMatch ICD10CM:M93.0 Slipped upper femoral epiphysis (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slipped upper femoral epiphysis LEXMATCH MONDO:0018408 cystic echinococcosis skos:exactMatch ICD10CM:B67.1 Echinococcus granulosus infection of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus infection of lung LEXMATCH MONDO:0018432 lichen myxedematosus skos:exactMatch ICD10CM:L98.5 Mucinosis of the skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lichen myxedematosus LEXMATCH @@ -1486,22 +1485,22 @@ MONDO:0018551 patent urachus skos:exactMatch ICD10CM:Q64.4 Malformation of urach MONDO:0018551 patent urachus skos:exactMatch ICD10CM:Q64.4 Malformation of urachus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym patent urachus LEXMATCH MONDO:0018570 hypophosphatasia skos:exactMatch ICD10CM:E83.39 Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypophosphatasia LEXMATCH MONDO:0018616 central serous chorioretinopathy skos:exactMatch ICD10CM:H35.71 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central serous chorioretinopathy LEXMATCH -MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label puerperal psychosis LEXMATCH -MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis LEXMATCH MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53 Mental and behavioral disorders associated with the puerperium, not elsewhere classified semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis LEXMATCH +MONDO:0018623 postpartum psychosis skos:exactMatch ICD10CM:F53.1 Puerperal psychosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label puerperal psychosis LEXMATCH MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sclerosing cholangitis LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis LEXMATCH MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis LEXMATCH +MONDO:0018646 sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis LEXMATCH MONDO:0018666 hepatoblastoma skos:exactMatch ICD10CM:C22.2 Hepatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoblastoma LEXMATCH MONDO:0018689 plasma cell leukemia skos:exactMatch ICD10CM:C90.1 Plasma cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasma cell leukemia LEXMATCH MONDO:0018690 Holmes-Adie syndrome skos:exactMatch ICD10CM:H57.05 Tonic pupil semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonic pupil LEXMATCH MONDO:0018695 avian influenza skos:exactMatch ICD10CM:J09.X Influenza due to identified novel influenza A virus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym avian influenza LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid LEXMATCH MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cicatricial pemphigoid LEXMATCH +MONDO:0018746 mucous membrane pemphigoid skos:exactMatch ICD10CM:L12.1 Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid LEXMATCH MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2 Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion LEXMATCH MONDO:0018755 scorpion envenomation skos:exactMatch ICD10CM:T63.2X Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch ICD10CM:M04.2 Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH MONDO:0018815 aneurysmal bone cyst skos:exactMatch ICD10CM:M85.5 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst LEXMATCH MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch ICD10CM:Q04.3 Other reduction deformities of brain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly LEXMATCH MONDO:0018849 dentinogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta LEXMATCH @@ -1533,8 +1532,8 @@ MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch ICD10CM:G MONDO:0018935 hairy cell leukemia skos:exactMatch ICD10CM:C91.4 Hairy cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hairy cell leukemia LEXMATCH MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch ICD10CM:E76.219 Morquio mucopolysaccharidoses, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome LEXMATCH MONDO:0018947 centronuclear myopathy skos:exactMatch ICD10CM:G71.22 Centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centronuclear myopathy LEXMATCH -MONDO:0018948 multiminicore myopathy skos:exactMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore disorder LEXMATCH MONDO:0018948 multiminicore myopathy skos:exactMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiminicore disorder LEXMATCH +MONDO:0018948 multiminicore myopathy skos:exactMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore disorder LEXMATCH MONDO:0018949 distal myopathy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal muscular dystrophy LEXMATCH MONDO:0018958 nemaline myopathy skos:exactMatch ICD10CM:G71.21 Nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy LEXMATCH MONDO:0018962 common mesentery skos:exactMatch ICD10CM:Q43.3 Congenital malformations of intestinal fixation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym universal mesentery LEXMATCH @@ -1550,23 +1549,23 @@ MONDO:0018992 IgG4-related thyroid disease skos:exactMatch ICD10CM:E06.5 Other c MONDO:0018997 Noonan syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome LEXMATCH MONDO:0018997 Noonan syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome LEXMATCH MONDO:0019000 perineural cyst skos:exactMatch ICD10CM:G96.191 Perineural cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst LEXMATCH +MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney LEXMATCH MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephronophthisis LEXMATCH MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephronophthisis LEXMATCH -MONDO:0019005 nephronophthisis skos:exactMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney LEXMATCH -MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele LEXMATCH MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos LEXMATCH +MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele LEXMATCH MONDO:0019015 omphalocele skos:exactMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele LEXMATCH +MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy LEXMATCH MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label takotsubo syndrome LEXMATCH MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch ICD10CM:I51.81 Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy LEXMATCH MONDO:0019023 cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytosis LEXMATCH MONDO:0019024 mast cell sarcoma skos:exactMatch ICD10CM:C96.22 Mast cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell sarcoma LEXMATCH MONDO:0019025 extracutaneous mastocytoma skos:exactMatch ICD10CM:D47.09 Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extracutaneous mastocytoma LEXMATCH MONDO:0019025 extracutaneous mastocytoma skos:exactMatch ICD10CM:D47.09 Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym extracutaneous mastocytoma LEXMATCH MONDO:0019034 accessory pancreas skos:exactMatch ICD10CM:Q45.3 Other congenital malformations of pancreas and pancreatic duct semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym accessory pancreas LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia LEXMATCH MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive supranuclear palsy LEXMATCH MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive supranuclear ophthalmoplegia LEXMATCH +MONDO:0019037 progressive supranuclear palsy skos:exactMatch ICD10CM:G23.1 Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia LEXMATCH MONDO:0019065 amyloidosis skos:exactMatch ICD10CM:E85 Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis LEXMATCH MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma LEXMATCH MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma LEXMATCH @@ -1586,13 +1585,13 @@ MONDO:0019167 immunoglobulin a vasculitis skos:exactMatch ICD10CM:D69.0 Allergic MONDO:0019168 pyomyositis skos:exactMatch ICD10CM:M60.0 Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis LEXMATCH MONDO:0019172 aniridia skos:exactMatch ICD10CM:Q13.1 Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia LEXMATCH MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch ICD10CM:Q13.81 Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riegers anomaly LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH MONDO:0019198 sympathetic ophthalmia skos:exactMatch ICD10CM:H44.13 Sympathetic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sympathetic uveitis LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa LEXMATCH MONDO:0019200 retinitis pigmentosa skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:exactMatch ICD10CM:J84.114 Acute interstitial pneumonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich syndrome LEXMATCH +MONDO:0019200 retinitis pigmentosa skos:exactMatch ICD10CM:H35.52 Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa LEXMATCH MONDO:0019203 acute interstitial pneumonia skos:exactMatch ICD10CM:J84.114 Acute interstitial pneumonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute interstitial pneumonitis LEXMATCH +MONDO:0019203 acute interstitial pneumonia skos:exactMatch ICD10CM:J84.114 Acute interstitial pneumonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich syndrome LEXMATCH MONDO:0019209 Japanese encephalitis skos:exactMatch ICD10CM:A83.0 Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis LEXMATCH MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch ICD10CM:C4A Merkel cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label merkel cell carcinoma LEXMATCH MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch ICD10CM:L56.5 Disseminated superficial actinic porokeratosis (DSAP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated superficial actinic porokeratosis LEXMATCH @@ -1605,34 +1604,34 @@ MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch ICD10CM:Q82.4 Ectode MONDO:0019314 cutaneous mastocytoma skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma LEXMATCH MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa LEXMATCH MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maculopapular cutaneous mastocytosis LEXMATCH +MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa LEXMATCH MONDO:0019319 verrucous nevus skos:exactMatch ICD10CM:Q82.5 Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verrucous nevus LEXMATCH -MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D86 Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis LEXMATCH MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis LEXMATCH MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D80-D89 Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis LEXMATCH +MONDO:0019338 sarcoidosis skos:exactMatch ICD10CM:D86 Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis LEXMATCH MONDO:0019342 Seckel syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seckel syndrome LEXMATCH -MONDO:0019349 Sotos syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome LEXMATCH MONDO:0019349 Sotos syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome LEXMATCH +MONDO:0019349 Sotos syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome LEXMATCH MONDO:0019355 adult-onset Still disease skos:exactMatch ICD10CM:M06.1 Adult-onset Still's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset stills disorder LEXMATCH MONDO:0019359 Rocky mountain spotted fever skos:exactMatch ICD10CM:A77.0 Spotted fever due to Rickettsia rickettsii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rocky mountain spotted fever LEXMATCH MONDO:0019360 rickettsialpox skos:exactMatch ICD10CM:A79.1 Rickettsialpox due to Rickettsia akari semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vesicular rickettsiosis LEXMATCH MONDO:0019365 scrub typhus skos:exactMatch ICD10CM:A75.3 Typhus fever due to Rickettsia tsutsugamushi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsutsugamushi fever LEXMATCH MONDO:0019367 regional odontodysplasia skos:exactMatch ICD10CM:K00.4 Disturbances in tooth formation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym regional odontodysplasia LEXMATCH MONDO:0019376 West-Nile encephalitis skos:exactMatch ICD10CM:A92.31 West Nile virus infection with encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym west nile encephalitis LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label california encephalitis LEXMATCH MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym la crosse encephalitis LEXMATCH +MONDO:0019378 la Crosse encephalitis skos:exactMatch ICD10CM:A83.5 California encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label california encephalitis LEXMATCH MONDO:0019384 encephalitis lethargica skos:exactMatch ICD10CM:A85.8 Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalitis lethargica LEXMATCH MONDO:0019384 encephalitis lethargica skos:exactMatch ICD10CM:A85.8 Other specified viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym encephalitis lethargica LEXMATCH MONDO:0019391 Fanconi anemia skos:exactMatch ICD10CM:D61.09 Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconis anemia LEXMATCH MONDO:0019402 beta thalassemia skos:exactMatch ICD10CM:D56.1 Beta thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta thalassemia LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH +MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neutrophilic leukemia LEXMATCH MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch ICD10CM:C94.4 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis LEXMATCH MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch ICD10CM:C92.A Acute myeloid leukemia with multilineage dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with multilineage dysplasia LEXMATCH MONDO:0019458 acute basophilic leukemia skos:exactMatch ICD10CM:C94.8 Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH +MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma LEXMATCH MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch ICD10CM:C83.0 Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodal marginal zone lymphoma LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm LEXMATCH MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch ICD10CM:C86.4 Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma LEXMATCH @@ -1651,8 +1650,8 @@ MONDO:0019507 amelogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary d MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis LEXMATCH MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch ICD10CM:D59.6 Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria LEXMATCH MONDO:0019537 hemoglobin D disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disorder LEXMATCH -MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis LEXMATCH MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis LEXMATCH +MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis LEXMATCH MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch ICD10CM:L93.2 Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus erythematosus profundus LEXMATCH MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch ICD10CM:L93.2 Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis LEXMATCH MONDO:0019562 localized scleroderma skos:exactMatch ICD10CM:L94.0 Localized scleroderma [morphea] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma LEXMATCH @@ -1684,10 +1683,10 @@ MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch ICD10CM:Q52.0 Co MONDO:0019944 Eisenmenger syndrome skos:exactMatch ICD10CM:I27.83 Eisenmenger's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eisenmengers syndrome LEXMATCH MONDO:0019946 ligneous conjunctivitis skos:exactMatch ICD10CM:H10.51 Ligneous conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ligneous conjunctivitis LEXMATCH MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch ICD10CM:D13.7 Benign neoplasm of endocrine pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym islet cell tumor LEXMATCH -MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niacin deficiency LEXMATCH -MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency LEXMATCH MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pellagra LEXMATCH +MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niacin deficiency LEXMATCH MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pellagra LEXMATCH +MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency LEXMATCH MONDO:0019978 Robinow syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-silverman-smith syndrome LEXMATCH MONDO:0020076 myeloproliferative neoplasm skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disorder LEXMATCH MONDO:0020110 pulmonary agenesis skos:exactMatch ICD10CM:Q33.3 Agenesis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of lung LEXMATCH @@ -1715,18 +1714,18 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch MONDO:0020481 myotonia fluctuans skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans LEXMATCH MONDO:0020482 myotonia permanens skos:exactMatch ICD10CM:G71.19 Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia permanens LEXMATCH MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch ICD10CM:A98.3 Marburg virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marburg virus disorder LEXMATCH +MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.0 Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jungle yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95 Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.0 Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sylvatic yellow fever LEXMATCH -MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.0 Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jungle yellow fever LEXMATCH MONDO:0020502 yellow fever skos:exactMatch ICD10CM:A95.1 Urban yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urban yellow fever LEXMATCH MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:C96.6 Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma LEXMATCH -MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:C96.6 Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH -MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma LEXMATCH +MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:K13.4 Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH +MONDO:0020517 eosinophilic granuloma skos:exactMatch ICD10CM:C96.6 Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma LEXMATCH MONDO:0020532 spirillary rat-bite fever skos:exactMatch ICD10CM:A25.0 Spirillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sodoku LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever LEXMATCH MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptobacillary rat-bite fever LEXMATCH +MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever LEXMATCH +MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever LEXMATCH MONDO:0020546 acute graft versus host disease skos:exactMatch ICD10CM:D89.810 Acute graft-versus-host disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020547 chronic graft versus host disease skos:exactMatch ICD10CM:D89.811 Chronic graft-versus-host disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020549 invasive hydatidiform mole skos:exactMatch ICD10CM:D39.2 Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym invasive hydatidiform mole LEXMATCH @@ -1757,19 +1756,19 @@ MONDO:0020989 hereditary persistence of fetal hemoglobin skos:exactMatch ICD10CM MONDO:0021001 hemochromatosis type 1 skos:exactMatch ICD10CM:E83.11 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis LEXMATCH MONDO:0021002 syndactyly skos:exactMatch ICD10CM:Q70 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly LEXMATCH MONDO:0021003 polydactyly skos:exactMatch ICD10CM:Q69 Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly LEXMATCH -MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis LEXMATCH MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibromatosis LEXMATCH +MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis LEXMATCH MONDO:0021061 neurofibromatosis skos:exactMatch ICD10CM:Q85.02 Neurofibromatosis, type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurofibromatosis LEXMATCH MONDO:0021063 malignant colon neoplasm skos:exactMatch ICD10CM:C18 Malignant neoplasm of colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of colon LEXMATCH MONDO:0021104 alcoholic fatty liver disease skos:exactMatch ICD10CM:K70.0 Alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic fatty liver LEXMATCH MONDO:0021107 narcolepsy skos:exactMatch ICD10CM:G47.41 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy LEXMATCH MONDO:0021112 scrotum cancer skos:exactMatch ICD10CM:C63.2 Malignant neoplasm of scrotum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of scrotum LEXMATCH -MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH +MONDO:0021132 tertiary hyperparathyroidism skos:exactMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism LEXMATCH MONDO:0021161 gonococcal prostatitis skos:exactMatch ICD10CM:A54.22 Gonococcal prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal prostatitis LEXMATCH MONDO:0021187 hyperlipidemia skos:exactMatch ICD10CM:E78.5 Hyperlipidemia, unspecified semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH +MONDO:0021287 carcinoma in situ of epiglottis skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoma in situ of epiglottis LEXMATCH MONDO:0021311 malignant tumor of parathyroid gland skos:exactMatch ICD10CM:C75.0 Malignant neoplasm of parathyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parathyroid gland LEXMATCH MONDO:0021315 malignant tumor of nasopharynx skos:exactMatch ICD10CM:C11 Malignant neoplasm of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasopharynx LEXMATCH MONDO:0021317 cancer of cerebellum skos:exactMatch ICD10CM:C71.6 Malignant neoplasm of cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cerebellum LEXMATCH @@ -1798,13 +1797,13 @@ MONDO:0021750 pyonephrosis skos:exactMatch ICD10CM:N13.6 Pyonephrosis semapv:Lex MONDO:0021777 acute rheumatic heart disease skos:exactMatch ICD10CM:I01.8 Other acute rheumatic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute rheumatic heart disorder LEXMATCH MONDO:0021783 streptococcal sore throat skos:exactMatch ICD10CM:J02.0 Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label streptococcal pharyngitis LEXMATCH MONDO:0021783 streptococcal sore throat skos:exactMatch ICD10CM:J02.0 Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptococcal sore throat LEXMATCH -MONDO:0021804 silicotuberculosis skos:exactMatch ICD10CM:J65 Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silicotuberculosis LEXMATCH MONDO:0021804 silicotuberculosis skos:exactMatch ICD10CM:J65 Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym silicotuberculosis LEXMATCH -MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortopulmonary septal defect LEXMATCH -MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortopulmonary window LEXMATCH +MONDO:0021804 silicotuberculosis skos:exactMatch ICD10CM:J65 Pneumoconiosis associated with tuberculosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silicotuberculosis LEXMATCH MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortopulmonary window LEXMATCH -MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH +MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortopulmonary window LEXMATCH +MONDO:0021902 aortopulmonary window skos:exactMatch ICD10CM:Q21.4 Aortopulmonary septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortopulmonary septal defect LEXMATCH MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH +MONDO:0021953 tuberculous fibrosis of lung skos:exactMatch ICD10CM:A15.0 Tuberculosis of lung semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous fibrosis of lung LEXMATCH MONDO:0022096 pyogenic granuloma skos:exactMatch ICD10CM:L98.0 Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma LEXMATCH MONDO:0022103 chronic prostatitis skos:exactMatch ICD10CM:N41.1 Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis LEXMATCH MONDO:0022308 corticobasal degeneration disorder skos:exactMatch ICD10CM:G31.85 Corticobasal degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label corticobasal degeneration LEXMATCH @@ -1817,8 +1816,8 @@ MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous per MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites LEXMATCH MONDO:0023161 viral myocarditis skos:exactMatch ICD10CM:B33.22 Viral myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myocarditis LEXMATCH MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:I30.1 Infective pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral pericarditis LEXMATCH -MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:B33.23 Viral pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral pericarditis LEXMATCH MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:I30.1 Infective pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral pericarditis LEXMATCH +MONDO:0023164 viral pericarditis skos:exactMatch ICD10CM:B33.23 Viral pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral pericarditis LEXMATCH MONDO:0023419 hyperprolinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolinemia LEXMATCH MONDO:0023483 infectious myositis skos:exactMatch ICD10CM:M60.0 Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective myositis LEXMATCH MONDO:0023642 Weber syndrome skos:exactMatch ICD10CM:G46.3 Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weber syndrome LEXMATCH @@ -1837,21 +1836,21 @@ MONDO:0024335 retrobulbar neuritis skos:exactMatch ICD10CM:H46.1 Retrobulbar neu MONDO:0024349 pityriasis alba skos:exactMatch ICD10CM:L30.5 Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba LEXMATCH MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10CM:G47.2 Circadian rhythm sleep disorders semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch ICD10CM:D21 Other benign neoplasms of connective and other soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neoplasm of cartilage LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marseilles fever LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus LEXMATCH MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever LEXMATCH -MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis LEXMATCH +MONDO:0024472 boutonneuse fever skos:exactMatch ICD10CM:A77.1 Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marseilles fever LEXMATCH MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis LEXMATCH +MONDO:0024518 reactive thrombocytosis skos:exactMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis LEXMATCH MONDO:0024608 dientamoebiasis skos:exactMatch ICD10CM:A07.8 Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal trichomoniasis LEXMATCH -MONDO:0024614 neurotic depression skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression LEXMATCH MONDO:0024614 neurotic depression skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic depression LEXMATCH +MONDO:0024614 neurotic depression skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression LEXMATCH MONDO:0024617 xanthogranuloma skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthogranuloma LEXMATCH MONDO:0024617 xanthogranuloma skos:exactMatch ICD10CM:D76.3 Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma LEXMATCH -MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertensive nephropathy LEXMATCH MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertensive nephropathy LEXMATCH +MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertensive nephropathy LEXMATCH MONDO:0024636 inflammation of heart layer skos:exactMatch ICD10CM:I51.89 Other ill-defined heart diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carditis LEXMATCH MONDO:0024643 myocardial disorder skos:exactMatch ICD10CM:I51.5 Myocardial degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myocardial disorder LEXMATCH MONDO:0024643 myocardial disorder skos:exactMatch ICD10CM:I51.5 Myocardial degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myocardial disorder LEXMATCH @@ -1874,11 +1873,11 @@ MONDO:0040925 latent yaws skos:exactMatch ICD10CM:A66.8 Latent yaws semapv:Lexic MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch ICD10CM:F41.8 Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed anxiety and depressive disorder LEXMATCH MONDO:0041086 mixed anxiety and depressive disorder skos:exactMatch ICD10CM:F41.8 Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed anxiety and depressive disorder LEXMATCH MONDO:0041182 polymorphic light eruption skos:exactMatch ICD10CM:L56.4 Polymorphous light eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption LEXMATCH -MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis LEXMATCH MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diphtheritic myocarditis LEXMATCH +MONDO:0041259 diphtheritic myocarditis skos:exactMatch ICD10CM:A36.81 Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis LEXMATCH MONDO:0041366 acute epiglottitis skos:exactMatch ICD10CM:J05.1 Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis LEXMATCH -MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH +MONDO:0041775 intraoperative floppy iris syndrome skos:exactMatch ICD10CM:H21.81 Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome LEXMATCH MONDO:0041879 staphylococcus aureus pneumonia skos:exactMatch ICD10CM:J15.21 Pneumonia due to staphylococcus aureus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to staphylococcus aureus LEXMATCH MONDO:0042233 disseminated candidiasis skos:exactMatch ICD10CM:B37.7 Candidal sepsis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated candidiasis LEXMATCH MONDO:0042233 disseminated candidiasis skos:exactMatch ICD10CM:B37.7 Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis LEXMATCH @@ -1903,9 +1902,9 @@ MONDO:0043465 achlorhydria skos:exactMatch ICD10CM:K31.83 Achlorhydria semapv:Le MONDO:0043468 acne keloid skos:exactMatch ICD10CM:L73.0 Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid LEXMATCH MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch ICD10CM:E24.3 Ectopic ACTH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectopic acth syndrome LEXMATCH MONDO:0043475 Adams-Stokes syndrome skos:exactMatch ICD10CM:I45.9 Conduction disorder, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stokes-adams syndrome LEXMATCH +MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia LEXMATCH MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrainous neuralgia LEXMATCH MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym histamine cephalgia LEXMATCH -MONDO:0043537 cluster headache syndrome skos:exactMatch ICD10CM:G44.00 Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia LEXMATCH MONDO:0043541 viral conjunctivitis skos:exactMatch ICD10CM:B30 Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis LEXMATCH MONDO:0043683 Leriche syndrome skos:exactMatch ICD10CM:I74.09 Other arterial embolism and thrombosis of abdominal aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leriches syndrome LEXMATCH MONDO:0043693 alcoholic liver diseases skos:exactMatch ICD10CM:K70 Alcoholic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic liver disorder LEXMATCH @@ -1928,8 +1927,8 @@ MONDO:0044144 panic disorder with agoraphobia skos:exactMatch ICD10CM:F40.01 Ago MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch ICD10CM:C81.0 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma LEXMATCH MONDO:0044816 familial idiopathic torsion dystonia skos:exactMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic familial dystonia LEXMATCH MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis LEXMATCH -MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis LEXMATCH MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis LEXMATCH +MONDO:0044903 myelofibrosis skos:exactMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis LEXMATCH MONDO:0044983 benign lipomatous neoplasm skos:exactMatch ICD10CM:D17 Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm LEXMATCH MONDO:0045044 ligament disorder skos:exactMatch ICD10CM:M24.2 Disorder of ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ligament LEXMATCH MONDO:0060766 anal polyp skos:exactMatch ICD10CM:K62.0 Anal polyp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal polyp LEXMATCH @@ -1958,8 +1957,8 @@ MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch ICD10CM:E75.24 Ni MONDO:0100471 vitamin D deficiency skos:exactMatch ICD10CM:E55.9 Vitamin D deficiency, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym avitaminosis d LEXMATCH MONDO:0400003 skeletal fluorosis skos:exactMatch ICD10CM:M85.1 Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis LEXMATCH MONDO:0400006 botryomycosis skos:exactMatch ICD10CM:L08.81 Pyoderma vegetans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyoderma vegetans LEXMATCH -MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gleichs syndrome LEXMATCH MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic angioedema with eosinophilia LEXMATCH +MONDO:0500000 episodic angioedema with eosinophilia skos:exactMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gleichs syndrome LEXMATCH MONDO:0600008 cytokine release syndrome skos:exactMatch ICD10CM:D89.83 Cytokine release syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytokine release syndrome LEXMATCH MONDO:0600025 hydrosalpinx skos:exactMatch ICD10CM:N70.1 Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrosalpinx LEXMATCH MONDO:0700051 liver abscess (disease) skos:exactMatch ICD10CM:K75.0 Abscess of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abscess of liver LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index ca0c0b1b..ab786edd 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -1,7 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000001 disease or disorder skos:exactMatch NCIT:C2991 Disease or Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000001 disease skos:exactMatch NCIT:C2991 Disease or Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000147 polyposis skos:exactMatch NCIT:C4089 Polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone marrow failure syndrome LEXMATCH +MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch NCIT:C4587 Stage 0 Oral Cavity Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000372 pharynx carcinoma in situ skos:exactMatch NCIT:C4942 Stage 0 Pharyngeal Cancer semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm LEXMATCH @@ -30,8 +30,6 @@ MONDO:0000525 cecum villous adenoma skos:exactMatch NCIT:C5520 Cecum Villous Ade MONDO:0000530 rectum adenoma skos:exactMatch NCIT:C5546 Rectal Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch NCIT:C102872 Pharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch NCIT:C4638 Small Intestinal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jejunal adenocarcinoma LEXMATCH -MONDO:0000543 ovarian melanoma skos:exactMatch NCIT:C178441 Ovarian Melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian melanoma LEXMATCH MONDO:0000548 ovarian clear cell cancer skos:exactMatch NCIT:C40077 Malignant Ovarian Clear Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000554 endocervical adenocarcinoma skos:exactMatch NCIT:C127907 Endocervical Adenocarcinoma, Usual-Type semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -55,19 +53,14 @@ MONDO:0000648 nervous system benign neoplasm skos:exactMatch NCIT:C4789 Benign N MONDO:0000650 peritoneal benign neoplasm skos:exactMatch NCIT:C8612 Benign Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch NCIT:C53684 Benign Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000665 apraxia skos:exactMatch NCIT:C180557 Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia LEXMATCH MONDO:0000685 visual agnosia skos:exactMatch NCIT:C35276 Visual Agnosia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection LEXMATCH MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000709 Crohn ileitis skos:exactMatch NCIT:C35329 Crohn Ileitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000723 stutter disorder skos:exactMatch NCIT:C35043 Stutter semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria LEXMATCH MONDO:0000743 oral hairy leukoplakia skos:exactMatch NCIT:C3722 Oral Cavity Hairy Leukoplakia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000746 obsolete inguinal hernia skos:exactMatch NCIT:C34690 Inguinal Hernia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000755 ectopic pregnancy skos:exactMatch NCIT:C34945 Ectopic Pregnancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000770 shellfish allergy skos:exactMatch NCIT:C172320 Shellfish Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shellfish allergy LEXMATCH -MONDO:0000778 fruit allergy skos:exactMatch NCIT:C172316 Fruit Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fruit allergy LEXMATCH -MONDO:0000827 salmonellosis skos:exactMatch NCIT:C157974 Salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salmonellosis LEXMATCH MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder LEXMATCH MONDO:0000839 obsolete congenital abnormality skos:exactMatch NCIT:C2849 Congenital Abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -89,6 +82,8 @@ MONDO:0000951 thymus lymphoma skos:exactMatch NCIT:C6451 Thymic Lymphoma semapv: MONDO:0000956 small intestine cancer skos:exactMatch NCIT:C7523 Malignant Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000974 axillary lipoma skos:exactMatch NCIT:C35419 Axillary Lipoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000986 pleurisy skos:exactMatch NCIT:C26860 Pleuritis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder LEXMATCH +MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder LEXMATCH MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch NCIT:C5531 Malignant Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001001 baritosis skos:exactMatch NCIT:C34410 Baritosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001004 slate pneumoconiosis skos:exactMatch NCIT:C35397 Slate Pneumoconiosis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -105,11 +100,8 @@ MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch NCIT:C6627 Medias MONDO:0001100 hypertrophy of breast skos:exactMatch NCIT:C3125 Breast Hypertrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001114 bacterial myocarditis skos:exactMatch NCIT:C128380 Bacterial Myocarditis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001128 nasal cavity cancer skos:exactMatch NCIT:C4918 Malignant Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant essential hypertension LEXMATCH MONDO:0001162 impulse control disorder skos:exactMatch NCIT:C34723 Impulse-Control Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue disorder LEXMATCH MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C126462 Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess LEXMATCH -MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis LEXMATCH MONDO:0001187 urinary bladder cancer skos:exactMatch NCIT:C9334 Malignant Bladder Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001188 esophagus lymphoma skos:exactMatch NCIT:C5687 Esophageal Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001192 esophageal melanoma skos:exactMatch NCIT:C5707 Esophageal Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -152,8 +144,8 @@ MONDO:0001441 pica disease skos:exactMatch NCIT:C92566 Pica Eating Disorder sema MONDO:0001476 coloboma skos:exactMatch NCIT:C98877 Coloboma of the Eye semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001500 gender identity disorder skos:exactMatch NCIT:C94362 Gender Identity Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001502 retroperitoneum carcinoma skos:exactMatch NCIT:C7352 Retroperitoneal Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis LEXMATCH MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34684 Alcoholic Hepatitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis LEXMATCH MONDO:0001526 labia minora cancer skos:exactMatch NCIT:C7637 Malignant Labia Minora Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001528 vulva cancer skos:exactMatch NCIT:C7502 Malignant Vulvar Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001531 blood coagulation disease skos:exactMatch NCIT:C2902 Coagulation Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -211,7 +203,6 @@ MONDO:0001977 ureteral lymphoma skos:exactMatch NCIT:C6175 Ureter Lymphoma semap MONDO:0001978 regional ureteric cancer skos:exactMatch NCIT:C9356 Regional Ureter Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch NCIT:C5367 Cardiac Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001994 sphenoidal sinus cancer skos:exactMatch NCIT:C3543 Malignant Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002021 gingival disorder skos:exactMatch NCIT:C173795 Gingival Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival disorder LEXMATCH MONDO:0002025 psychiatric disorder skos:exactMatch NCIT:C2893 Psychiatric Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002033 cecum cancer skos:exactMatch NCIT:C9329 Malignant Cecum Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma LEXMATCH @@ -221,16 +212,16 @@ MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch NCIT:C36090 MONDO:0002063 breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002064 breast angiomatosis skos:exactMatch NCIT:C40381 Breast Angiomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002071 supratentorial cancer skos:exactMatch NCIT:C4964 Malignant Supratentorial Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C6767 Malignant Pineal Region Germ Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH +MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C6767 Malignant Pineal Region Germ Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch NCIT:C35225 Arthropathy in Behcet's Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002078 heart septal defect skos:exactMatch NCIT:C84482 Congenital Septal Defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002083 Richter syndrome skos:exactMatch NCIT:C35424 Richter Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002087 peritoneum cancer skos:exactMatch NCIT:C3538 Malignant Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch NCIT:C6796 Eccrine Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002092 small intestine leiomyoma skos:exactMatch NCIT:C7725 Small Intestinal Leiomyoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH MONDO:0002095 vascular cancer skos:exactMatch NCIT:C8538 Malignant Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH MONDO:0002100 cardiovascular cancer skos:exactMatch NCIT:C114940 Malignant Cardiovascular Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002108 thyroid cancer skos:exactMatch NCIT:C7510 Malignant Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002109 pituitary cancer skos:exactMatch NCIT:C4769 Malignant Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -238,7 +229,7 @@ MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch NCIT:C7354 Peritone MONDO:0002114 pancreas lymphoma skos:exactMatch NCIT:C5714 Pancreatic Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002117 pancreas sarcoma skos:exactMatch NCIT:C5715 Pancreatic Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C8422 Cemento-Ossifying Fibroma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossifying fibroma LEXMATCH +MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant skull neoplasm LEXMATCH MONDO:0002135 optic nerve disorder skos:exactMatch NCIT:C118711 Optic Neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic neuropathy LEXMATCH MONDO:0002140 vagina sarcoma skos:exactMatch NCIT:C7737 Vaginal Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -431,8 +422,8 @@ MONDO:0002865 anus sarcoma skos:exactMatch NCIT:C5611 Anal Sarcoma semapv:Unspec MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002869 heart valve disorder skos:exactMatch NCIT:C45525 Valvular Heart Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm LEXMATCH MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C36097 Cervical Carcinosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm LEXMATCH MONDO:0002879 uterine body mixed cancer skos:exactMatch NCIT:C6311 Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002880 ovarian adenosarcoma skos:exactMatch NCIT:C7317 Ovarian Adenosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002881 vaginal adenosarcoma skos:exactMatch NCIT:C40277 Vaginal Adenosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -475,7 +466,6 @@ MONDO:0003028 thyroid sarcoma skos:exactMatch NCIT:C6041 Thyroid Gland Sarcoma s MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch NCIT:C40220 Endometrioid Stromal Sarcoma of the Cervix semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch NCIT:C40218 Cervical Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003034 mediastinum angiosarcoma skos:exactMatch NCIT:C6613 Mediastinal Angiosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysgraphia LEXMATCH MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch NCIT:C6461 Thymic Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch NCIT:C5238 Ovarian Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -501,7 +491,6 @@ MONDO:0003134 proliferative glomerulonephritis skos:exactMatch NCIT:C35281 Proli MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NCIT:C35445 Mesangial Proliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch NCIT:C5436 Cerebellopontine Angle Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch NCIT:C5817 Intracranial Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C2874 Angiokeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma LEXMATCH MONDO:0003144 medulloepithelioma skos:exactMatch NCIT:C4327 Central Nervous System Medulloepithelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch NCIT:C6968 Supratentorial Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003158 malignant myoepithelioma skos:exactMatch NCIT:C7596 Malignant Myoepithelioma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1015,8 +1004,8 @@ MONDO:0004519 synovial angioma skos:exactMatch NCIT:C6525 Synovial Hemangioma se MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C7325 Intratubular Non-Seminoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm LEXMATCH +MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch NCIT:C6584 Palisaded Lymph Node Myofibroblastoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch NCIT:C36096 Early Invasive Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004531 sclerosing adenosis of breast skos:exactMatch NCIT:C5205 Breast Sclerosing Adenosis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1045,7 +1034,7 @@ MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch NCIT:C91 MONDO:0004624 uvula cancer skos:exactMatch NCIT:C35177 Malignant Uvula Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004631 tongue cancer skos:exactMatch NCIT:C9345 Malignant Tongue Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch NCIT:C3517 Mixed Cellularity Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vein disorder LEXMATCH +MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004635 postcricoid region cancer skos:exactMatch NCIT:C9323 Malignant Postcricoid Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004636 lip carcinoma in situ skos:exactMatch NCIT:C4588 Stage 0 Lip Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004638 lymphosarcoma skos:exactMatch NCIT:C26919 Lymphosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1077,8 +1066,8 @@ MONDO:0004712 herpes simplex dermatitis skos:exactMatch NCIT:C35620 Herpes Simpl MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C7788 Stage 0 Gastric Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C3528 Malignant Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004720 variola minor infection skos:exactMatch NCIT:C34365 Alastrim semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C8396 Submandibular Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C8396 Submandibular Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C4853 Stage 0 Rectal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004733 pyriform sinus cancer skos:exactMatch NCIT:C3531 Malignant Pyriform Fossa Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1089,7 +1078,6 @@ MONDO:0004754 rectal prolapse skos:exactMatch NCIT:C34973 Rectal Prolapse semapv MONDO:0004756 nasal cavity neoplasm skos:exactMatch NCIT:C4413 Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004788 cervix squamous papilloma skos:exactMatch NCIT:C6342 Cervical Squamous Cell Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004795 otitis externa skos:exactMatch NCIT:C3299 Infectious Otitis Externa semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa LEXMATCH MONDO:0004796 infectious meningitis skos:exactMatch NCIT:C79598 Infectious Meningitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch NCIT:C7765 Osteosclerotic Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch NCIT:C4734 Non-Secretory Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1143,7 +1131,6 @@ MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch NCIT:C53654 Idiopathic C MONDO:0005111 Epstein-Barr virus infection skos:exactMatch NCIT:C38759 EBV Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005112 malignant pleural mesothelioma skos:exactMatch NCIT:C7376 Pleural Malignant Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005113 bacterial infectious disease skos:exactMatch NCIT:C2890 Bacterial Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporal lobe epilepsy LEXMATCH MONDO:0005132 cytomegalovirus infection skos:exactMatch NCIT:C53649 Cytomegaloviral Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005135 parasitic infectious disease skos:exactMatch NCIT:C27864 Parasitic Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005154 liver disorder skos:exactMatch NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1162,10 +1149,8 @@ MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch NCIT:C7355 Renal MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch NCIT:C7149 Smoldering Plasma Cell Myeloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005236 xanthoma skos:exactMatch NCIT:C4071 Xanthoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005266 diabetic retinopathy skos:exactMatch NCIT:C34538 Diabetic Retinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia LEXMATCH MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C82591 Myelodysplastic Syndrome with Single Lineage Dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005283 retinal disorder skos:exactMatch NCIT:C62601 Retinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal disorder LEXMATCH MONDO:0005286 palatal neoplasm skos:exactMatch NCIT:C4402 Palate Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005289 paranasal sinus neoplasm skos:exactMatch NCIT:C7488 Paranasal Sinus Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C148023 Sleep-Disordered Breathing semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1174,12 +1159,10 @@ MONDO:0005299 brain ischemia skos:exactMatch NCIT:C78394 Cerebrovascular Ischemi MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005310 atrial flutter skos:exactMatch NCIT:C51224 Atrial Flutter semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005311 atherosclerosis skos:exactMatch NCIT:C35768 Atherosclerosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NCIT:C165675 Relapsing-Remitting Multiple Sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing-remitting multiple sclerosis LEXMATCH MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch NCIT:C84721 Fuchs Endothelial Dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005335 colorectal neoplasm skos:exactMatch NCIT:C2956 Colorectal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005341 skin basal cell carcinoma skos:exactMatch NCIT:C2921 Skin Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C35280 Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis LEXMATCH -MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis LEXMATCH MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch NCIT:C34683 Dengue Hemorrhagic Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005365 hearing loss disorder skos:exactMatch NCIT:C35731 Hearing Loss semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005367 heroin dependence skos:exactMatch NCIT:C34694 Heroin Dependence semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1195,14 +1178,13 @@ MONDO:0005406 gestational diabetes skos:exactMatch NCIT:C34942 Gestational Diabe MONDO:0005411 gallbladder cancer skos:exactMatch NCIT:C7481 Gallbladder Malignant Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005439 familial hypercholesterolemia skos:exactMatch NCIT:C34704 Hyperlipoproteinemia, Type II semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34768 Cutaneous Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis LEXMATCH MONDO:0005447 testicular cancer skos:exactMatch NCIT:C7251 Malignant Testicular Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch NCIT:C5670 Lung Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005460 swine influenza skos:exactMatch NCIT:C80444 H1N1 Influenza semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch NCIT:C3716 Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005473 temporomandibular joint disorder skos:exactMatch NCIT:C63709 Temporomandibular Joint Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005479 atrial tachycardia skos:exactMatch NCIT:C35481 Atrial Tachycardia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chemotherapy-induced alopecia LEXMATCH +MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005485 psychotic disorder skos:exactMatch NCIT:C78576 Psychosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005486 tooth agenesis skos:exactMatch NCIT:C171426 Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia LEXMATCH MONDO:0005494 triple-negative breast carcinoma skos:exactMatch NCIT:C71732 Triple-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1244,12 +1226,10 @@ MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch NCIT:C48 MONDO:0005663 Barre-Lieou syndrome skos:exactMatch NCIT:C34411 Cervicocranial Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005664 bartonellosis skos:exactMatch NCIT:C84586 Bartonella Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005665 Bell's palsy skos:exactMatch NCIT:C26769 Cranial Nerve VII Palsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34428 Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis LEXMATCH MONDO:0005693 cauda equina syndrome skos:exactMatch NCIT:C35436 Cauda Equina Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005700 chickenpox skos:exactMatch NCIT:C97132 Chicken Pox semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch NCIT:C34463 Chlamydial Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005710 composite lymphoma skos:exactMatch NCIT:C38661 Composite Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005723 Cryptococcal meningitis skos:exactMatch NCIT:C174113 Cryptococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcal meningitis LEXMATCH MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch NCIT:C36171 Ebola Hemorrhagic Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005742 emphysematous cholecystitis skos:exactMatch NCIT:C35592 Emphysematous Cholecystitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005755 equine infectious anemia skos:exactMatch NCIT:C84694 Equine Infectious Anemia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1276,11 +1256,9 @@ MONDO:0005894 paracoccidioidomycosis skos:exactMatch NCIT:C34891 Paracoccidioido MONDO:0005915 pityriasis versicolor skos:exactMatch NCIT:C82981 Malassezia furfur Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005941 retroperitoneal cancer skos:exactMatch NCIT:C3537 Malignant Retroperitoneal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005961 sinusitis skos:exactMatch NCIT:C35024 Sinusitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis LEXMATCH MONDO:0005966 spleen cancer skos:exactMatch NCIT:C3539 Malignant Splenic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005972 streptococcal pneumonia skos:exactMatch NCIT:C157959 Pneumococcal Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumococcal pneumonia LEXMATCH MONDO:0005982 tinea infection skos:exactMatch NCIT:C112181 Tinea Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis LEXMATCH MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch NCIT:C35083 Trichomonas Vaginitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C35362 Bladder Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder schistosomiasis LEXMATCH MONDO:0006025 autosomal recessive disease skos:exactMatch NCIT:C85866 Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder LEXMATCH @@ -1292,7 +1270,7 @@ MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch NCIT:C5161 Breast Ple MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma LEXMATCH MONDO:0006054 reproductive system neoplasm skos:exactMatch NCIT:C3674 Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006055 sex cord-stromal tumor skos:exactMatch NCIT:C3794 Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal squamous cell carcinoma LEXMATCH +MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch NCIT:C39882 Prostate Acinar Adenocarcinoma, Foamy Gland Variant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch NCIT:C5537 Prostate Acinar Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1456,8 +1434,8 @@ MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch NCIT:C5933 Par MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5974 Parotid Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch NCIT:C5942 Parotid Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006361 penile fibromatosis skos:exactMatch NCIT:C3316 Penile Fibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma LEXMATCH MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C6536 Peritoneal Multicystic Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma LEXMATCH MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch NCIT:C45661 Peritoneal Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch NCIT:C4733 Peutz-Jeghers Polyp semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch NCIT:C36205 Peutz-Jeghers Polyp of the Stomach semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1530,7 +1508,7 @@ MONDO:0006482 ureter small cell carcinoma skos:exactMatch NCIT:C6176 Ureter Smal MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch NCIT:C27941 Breast Usual Ductal Hyperplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch NCIT:C40261 Vaginal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006488 vaginal carcinosarcoma skos:exactMatch NCIT:C40278 Vaginal Carcinosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma LEXMATCH +MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006491 vulvar lichen sclerosus skos:exactMatch NCIT:C27723 Vulvar Lichen Sclerosus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006493 Warthin tumor skos:exactMatch NCIT:C2854 Warthin Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1563,9 +1541,8 @@ MONDO:0006676 beriberi skos:exactMatch NCIT:C34418 Vitamin B1 Deficiency semapv: MONDO:0006680 blue nevus skos:exactMatch NCIT:C3803 Blue Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006700 choroid cancer skos:exactMatch NCIT:C3566 Malignant Choroid Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006701 chromophobe adenoma skos:exactMatch NCIT:C2857 Pituitary Gland Chromophobe Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C6801 Skin Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic eventration LEXMATCH +MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH MONDO:0006734 benign duodenal neoplasm skos:exactMatch NCIT:C4775 Benign Duodenal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006742 endemic goiter skos:exactMatch NCIT:C35023 Endemic Goiter semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C8973 Endometrioid Stromal Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1591,21 +1568,18 @@ MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch NCIT:C7527 Mali MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch NCIT:C7380 Thyroid Gland Papillary and Follicular Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006889 paraphimosis skos:exactMatch NCIT:C34893 Paraphimosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C3916 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parathyroid gland adenoma LEXMATCH +MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006905 pigmented spindle cell nevus skos:exactMatch NCIT:C4751 Pigmented Spindle Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006908 pituitary apoplexy skos:exactMatch NCIT:C26853 Pituitary Gland Apoplexy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006913 pneumococcal meningitis skos:exactMatch NCIT:C157958 Pneumococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis LEXMATCH MONDO:0006921 Actinomycetales infectious disease skos:exactMatch NCIT:C84534 Actinomycetales Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006941 rat-bite fever skos:exactMatch NCIT:C34971 Rat-Bite Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006948 retinal artery occlusion skos:exactMatch NCIT:C34978 Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006956 Rickettsiosis skos:exactMatch NCIT:C34991 Rickettsiosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006966 secondary Parkinson disease skos:exactMatch NCIT:C34899 Secondary Parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006969 sialadenitis skos:exactMatch NCIT:C115165 Sialitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis LEXMATCH MONDO:0006973 skin appendage carcinoma skos:exactMatch NCIT:C3775 Adnexal Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006975 smooth muscle tumor skos:exactMatch NCIT:C3751 Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006976 somatostatinoma skos:exactMatch NCIT:C3379 Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis LEXMATCH MONDO:0006989 suppurative periapical periodontitis skos:exactMatch NCIT:C34913 Periapical Dental Abscess semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006996 thyroid crisis skos:exactMatch NCIT:C112836 Thyroid Storm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006998 tonsil cancer skos:exactMatch NCIT:C7404 Malignant Tonsillar Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1619,10 +1593,7 @@ MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:exactMatc MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C118434 Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy LEXMATCH MONDO:0007100 familial amyloid neuropathy skos:exactMatch NCIT:C84554 Familial Amyloid Neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 LEXMATCH MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NCIT:C2936 Cerebral Arteriovenous Malformation/Hemangioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 LEXMATCH MONDO:0007191 Behcet disease skos:exactMatch NCIT:C34416 Behcet Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch NCIT:C122660 Hardcastle's Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007233 second branchial cleft anomaly skos:exactMatch NCIT:C104813 Branchial Cleft Remnant semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1633,31 +1604,24 @@ MONDO:0007263 cardiac rhythm disease skos:exactMatch NCIT:C2881 Arrhythmia semap MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch NCIT:C133725 Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007276 cat-eye syndrome skos:exactMatch NCIT:C75477 Cat-Eye Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 LEXMATCH MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 LEXMATCH MONDO:0007340 cleidocranial dysplasia skos:exactMatch NCIT:C75020 Cleidocranial Dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007345 aorta coarctation skos:exactMatch NCIT:C84567 Aortic Coarctation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome LEXMATCH -MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone-rod dystrophy type 2 LEXMATCH +MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007416 Balkan nephropathy skos:exactMatch NCIT:C123025 Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NCIT:C129741 Glucokinase-Associated Diabetes Mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 1 LEXMATCH MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NCIT:C116718 Early Onset Primary Dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 12 LEXMATCH MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NCIT:C125698 Ehlers-Danlos Syndrome, Type III semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NCIT:C125701 Ehlers-Danlos Syndrome, Type VII semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NCIT:C34415 Beckwith-Wiedemann Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007565 familial cylindromatosis skos:exactMatch NCIT:C43352 Turban Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch NCIT:C4461 Multiple Self Healing Epithelioma of Ferguson-Smith semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007576 esophageal cancer skos:exactMatch NCIT:C7478 Malignant Esophageal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exudative vitreoretinopathy type 1 LEXMATCH MONDO:0007600 primary Fanconi syndrome skos:exactMatch NCIT:C123229 Primary Fanconi Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007608 desmoid tumor skos:exactMatch NCIT:C9182 Desmoid Fibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome LEXMATCH MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch NCIT:C43295 Hereditary Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007665 glaucoma 1, open angle, E skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007672 glomuvenous malformation skos:exactMatch NCIT:C5350 Hereditary Glomangioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NCIT:C3821 Hemangiomatosis with Thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NCIT:C119051 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1674,11 +1638,6 @@ MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch NC MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch NCIT:C165527 Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 LEXMATCH MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch NCIT:C6867 Myelodysplastic Syndrome with Isolated del(5q) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch NCIT:C176905 Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome LEXMATCH -MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meniere disorder LEXMATCH -MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome LEXMATCH -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facioscapulohumeral muscular dystrophy type 1 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome LEXMATCH MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch NCIT:C123172 Medullary Cystic Kidney Disease Type II semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies LEXMATCH @@ -1692,7 +1651,7 @@ MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NCIT:C95436 Heredi MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch NCIT:C4383 Erosive Nipple Adenomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008277 stomach polyp skos:exactMatch NCIT:C3954 Gastric Polyp semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008315 prostate cancer skos:exactMatch NCIT:C7378 Malignant Prostate Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008332 pseudo-von Willebrand disease skos:exactMatch NCIT:C131681 Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NCIT:C131681 Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch NCIT:C27049 Congenital Eyelid Ptosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NCIT:C99033 Pulmonary Valve Atresia with Ventricular Septal Defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008364 Raynaud disease skos:exactMatch NCIT:C116359 Secondary Raynaud Phenomenon semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1713,39 +1672,24 @@ MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NCIT:C3816 Type II Acho MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84539 Acyl-CoA Dehydrogenase, Short-Chain Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 2b LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch NCIT:C168731 Oculocutaneous Albinism Type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a LEXMATCH MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch NCIT:C35257 Alper Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008779 arthrogryposis skos:exactMatch NCIT:C84572 Arthrogryposis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch NCIT:C128805 Generalized Arterial Calcification of Infancy 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008840 ataxia telangiectasia skos:exactMatch NCIT:C2887 Ataxia Telangiectasia Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class ii deficiency LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a LEXMATCH -MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bietti crystalline corneoretinal dystrophy LEXMATCH MONDO:0008903 lung cancer skos:exactMatch NCIT:C7377 Malignant Lung Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome LEXMATCH MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch NCIT:C98890 Congenital Cerebellar Hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 LEXMATCH MONDO:0008965 CHARGE syndrome skos:exactMatch NCIT:C75100 CHARGE Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch NCIT:C131420 Blomstrand Type Chondrodysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 2 LEXMATCH MONDO:0009022 corpus callosum, agenesis of skos:exactMatch NCIT:C98905 Corpus Callosum Agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009047 cryptorchidism skos:exactMatch NCIT:C12326 Undescended Testes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C98910 Cytochrome-C Oxidase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C98910 Cytochrome-C Oxidase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch NCIT:C124844 Dyggve-Melchior-Clausen Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch NCIT:C114781 Dialysis Disequilibrium Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 1 LEXMATCH MONDO:0009141 torsion dystonia 2 skos:exactMatch NCIT:C123415 Autosomal Recessive Torsion Dystonia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 1 LEXMATCH MONDO:0009210 congenital factor V deficiency skos:exactMatch NCIT:C98938 Hereditary Factor V Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009212 congenital factor X deficiency skos:exactMatch NCIT:C98940 Hereditary Factor X Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption LEXMATCH MONDO:0009279 triple-A syndrome skos:exactMatch NCIT:C131005 Triple A Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia LEXMATCH MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C34649 Goodpasture Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goodpasture syndrome LEXMATCH @@ -1759,21 +1703,17 @@ MONDO:0009412 scurvy skos:exactMatch NCIT:C35010 Vitamin C Deficiency semapv:Uns MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch NCIT:C4385 Hypothalamic Hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C101027 Jejunal Atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal atresia LEXMATCH MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C98828 Small Intestine Atresia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 1 LEXMATCH MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis LEXMATCH MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch NCIT:C61245 Cartilage Hair Hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NCIT:C142171 Methylmalonic Aciduria, cblA Type semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NCIT:C142172 Methylmalonic Aciduria, cblB Type semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 7 myelodysplasia and leukemia syndrome type 1 LEXMATCH MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch NCIT:C126740 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NCIT:C126741 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome LEXMATCH MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009755 neutrophil actin dysfunction skos:exactMatch NCIT:C3694 Dysplastic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive osteopetrosis type 1 LEXMATCH MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NCIT:C123212 Primary Hyperoxaluria Type I semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch NCIT:C123213 Primary Hyperoxaluria Type II semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch NCIT:C9005 Malignant Pancreatic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1781,8 +1721,6 @@ MONDO:0009838 Parana hard-skin syndrome skos:exactMatch NCIT:C126559 Hard Skin S MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch NCIT:C138171 Hyperphenylalaninemia, BH4-deficient A semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NCIT:C35288 Desquamative Interstitial Pneumonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartsocas-papas syndrome LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency LEXMATCH MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NCIT:C98699 5 Alpha Steroid Reductase 2 Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NCIT:C99029 Pulmonary Arteriovenous Fistula semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1798,20 +1736,14 @@ MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch NCIT:C131075 MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency LEXMATCH MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome LEXMATCH MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome LEXMATCH MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type LEXMATCH MONDO:0010281 Danon disease skos:exactMatch NCIT:C84735 Glycogen Storage Disease Type IIb semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch NCIT:C136653 X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch NCIT:C75485 X-Linked Cornelia De Lange Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch NCIT:C132293 Severe Neonatal Encephalopathy Due to MECP2 Mutations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia LEXMATCH -MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome LEXMATCH MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch NCIT:C142803 Developmental and Epileptic Encephalopathy 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 36 LEXMATCH MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch NCIT:C130989 Immunoglobulin Superfamily Member 1 Deficiency Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 5 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome LEXMATCH MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NCIT:C118631 Alpha Thalassemia X-Linked Mental Retardation Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch NCIT:C129068 Charcot-Marie-Tooth Neuropathy X Type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010557 choroideremia skos:exactMatch NCIT:C34469 Choroideremia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1819,11 +1751,8 @@ MONDO:0010562 colonic atresia skos:exactMatch NCIT:C101024 Colon Atresia semapv: MONDO:0010568 Aicardi syndrome skos:exactMatch NCIT:C35256 Aicardi Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NCIT:C131009 Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome type 1 LEXMATCH -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sertoli cell-only syndrome LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant hypophosphatemic rickets LEXMATCH MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NCIT:C61246 X-Linked Lymphoproliferative Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010651 Menkes disease skos:exactMatch NCIT:C75486 Menkes Disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome LEXMATCH MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NCIT:C75482 Duchenne Muscular Dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010702 orofaciodigital syndrome I skos:exactMatch NCIT:C75481 Orofaciodigital Syndrome Type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NCIT:C84957 Ornithine Carbamoyltransferase Deficiency Disease semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1831,7 +1760,6 @@ MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exa MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NCIT:C75487 Pelizaeus-Merzbacher Disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010725 X-linked retinoschisis skos:exactMatch NCIT:C75483 Juvenile X-Linked Retinoschisis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010726 Rett syndrome skos:exactMatch NCIT:C75488 Rett Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia type 1 LEXMATCH MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NCIT:C126330 X-Linked Dystonia Parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch NCIT:C120198 46,XY Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch NCIT:C45745 Conduction System Hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1840,96 +1768,58 @@ MONDO:0010795 oncocytic neoplasm skos:exactMatch NCIT:C7072 Oncocytic Neoplasm s MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch NCIT:C131074 Vitamin D 25-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010888 adenomyosis skos:exactMatch NCIT:C6996 Uterine Corpus Adenomyosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NCIT:C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigment dispersion syndrome LEXMATCH -MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 1 LEXMATCH MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NCIT:C3342 Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NCIT:C131076 Vitamin D Dependent Rickets 2b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch NCIT:C75456 Potocki-Shaffer Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011055 distal monosomy 10p skos:exactMatch NCIT:C130982 10p13-p14 Deletion Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch NCIT:C170436 Dilated Cardiomyopathy-1C semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 1, photosensitive LEXMATCH MONDO:0011146 tetrasomy 12p skos:exactMatch NCIT:C75458 Pallister-Killian Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NCIT:C84522 Deletion 18q Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsion dystonia type 6 LEXMATCH MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch NCIT:C46004 Thyroid Gland Papillary Microcarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch NCIT:C39576 Type 2 Autoimmune Lymphoproliferative Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011385 intervertebral disc degenerative disorder skos:exactMatch NCIT:C26983 Intervertebral Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011399 alpha thalassemia skos:exactMatch NCIT:C34368 Alpha Thalassemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia LEXMATCH MONDO:0011449 Salla disease skos:exactMatch NCIT:C85067 Sialic Acid Storage Disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 LEXMATCH MONDO:0011476 MHC class I deficiency skos:exactMatch NCIT:C171267 Bare Lymphocyte Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bare lymphocyte syndrome type 1 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch NCIT:C85020 Postural Orthostatic Tachycardia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postural orthostatic tachycardia syndrome LEXMATCH MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011514 tricuspid atresia skos:exactMatch NCIT:C85202 Tricuspid Valve Atresia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 2 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy, app-related LEXMATCH MONDO:0011603 GNE myopathy skos:exactMatch NCIT:C176900 Nonaka Myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonaka myopathy LEXMATCH MONDO:0011644 pars planitis skos:exactMatch NCIT:C34903 Pars Planitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phelan-mcdermid syndrome LEXMATCH MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C7943 Adult Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NCIT:C129746 PDX1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch NCIT:C129745 Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma-pancreatic cancer syndrome LEXMATCH MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch NCIT:C131832 Glutamate Dehydrogenase 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glut1 deficiency syndrome type 1 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch NCIT:C175208 Familial Digital Arthropathy-Brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder type 2 LEXMATCH MONDO:0011786 allergic rhinitis skos:exactMatch NCIT:C79532 Allergic Rhinitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011789 familial meningioma skos:exactMatch NCIT:C5301 Hereditary Meningioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 LEXMATCH MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch NCIT:C123021 Tubulointerstitial Nephritis and Uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair LEXMATCH MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NCIT:C118783 Merosin-Deficient Congenital Muscular Dystrophy Type 1A semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia LEXMATCH MONDO:0012000 specific phobia skos:exactMatch NCIT:C35284 Specific Phobia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012004 parathyroid gland carcinoma skos:exactMatch NCIT:C4906 Parathyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label capillary malformation-arteriovenous malformation syndrome LEXMATCH +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012048 endogenous depression skos:exactMatch NCIT:C34532 Endogenous Depression semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 LEXMATCH MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 LEXMATCH MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch NCIT:C62590 Idiopathic Pneumonia Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis LEXMATCH MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NCIT:C35480 Aseptic Necrosis of Femoral Head semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 LEXMATCH -MONDO:0012240 nemaline myopathy 4 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 LEXMATCH MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 3 LEXMATCH +MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98863 Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch NCIT:C131839 Monocarboxylate Transporter 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 2 LEXMATCH MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 5 LEXMATCH MONDO:0012456 congenital primary aphakia skos:exactMatch NCIT:C35172 Congenital Aphakia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome type 12 LEXMATCH MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch NCIT:C131836 Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012521 herpes simplex encephalitis skos:exactMatch NCIT:C84762 Herpes Simplex Encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 4 LEXMATCH -MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xfe progeroid syndrome LEXMATCH -MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 5 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 7 LEXMATCH MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NCIT:C119043 NALP12-Associated Hereditary Periodic Fever Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 16 LEXMATCH MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 LEXMATCH MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch NCIT:C38145 Chronic Allograft Nephropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 9 LEXMATCH MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 LEXMATCH MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 LEXMATCH MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 5 LEXMATCH MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 LEXMATCH @@ -1939,95 +1829,49 @@ MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis s MONDO:0013098 noise induced hearing loss skos:exactMatch NCIT:C34664 Noise Induced Hearing Loss semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013131 polycystic kidney disease 2 skos:exactMatch NCIT:C123166 Autosomal Dominant Polycystic Kidney Disease Type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch NCIT:C98815 Antithrombin III Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antithrombin iii deficiency LEXMATCH -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 28 LEXMATCH MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch NCIT:C126742 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch NCIT:C126743 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch NCIT:C126690 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency LEXMATCH MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NCIT:C148369 Muscular Dystrophy Congenital, LMNA-Related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 6 LEXMATCH MONDO:0013199 tuberous sclerosis 2 skos:exactMatch NCIT:C75331 Tuberous Sclerosis 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 2 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome LEXMATCH -MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome, congenital variant LEXMATCH MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:exactMatch NCIT:C172094 Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 5 LEXMATCH -MONDO:0013379 Noonan syndrome 7 skos:exactMatch NCIT:C176935 Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 7 LEXMATCH MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch NCIT:C172096 Developmental and Epileptic Encephalopathy 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 11 LEXMATCH MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch NCIT:C131422 Cholesterol Side-Chain Cleavage Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 3 LEXMATCH -MONDO:0013434 primary ciliary dyskinesia 14 skos:exactMatch NCIT:C148370 Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 14 LEXMATCH -MONDO:0013435 primary ciliary dyskinesia 15 skos:exactMatch NCIT:C155999 Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 15 LEXMATCH MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch NCIT:C36421 del(13q14) semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:exactMatch NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 2 LEXMATCH -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:exactMatch NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 3 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:exactMatch NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 2 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:exactMatch NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 3 LEXMATCH MONDO:0013551 hereditary spastic paraplegia 47 skos:exactMatch NCIT:C164224 Spastic Paraplegia 47 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 LEXMATCH MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 LEXMATCH MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 7 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:exactMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 2 LEXMATCH MONDO:0013626 psoriasis 14, pustular skos:exactMatch NCIT:C119057 Deficiency of the Interleukin-36 Receptor Antagonist semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 4 LEXMATCH MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch NCIT:C3924 Becker Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:exactMatch NCIT:C176820 Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome type 2 LEXMATCH MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:exactMatch NCIT:C188139 Developmental and Epileptic Encephalopathy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 13 LEXMATCH -MONDO:0013824 Joubert syndrome 17 skos:exactMatch NCIT:C175702 Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 17 LEXMATCH -MONDO:0013829 UV-sensitive syndrome 2 skos:exactMatch NCIT:C173110 UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 2 LEXMATCH -MONDO:0013834 UV-sensitive syndrome 3 skos:exactMatch NCIT:C173107 UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 3 LEXMATCH MONDO:0013842 cortisone reductase deficiency 2 skos:exactMatch NCIT:C131084 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch NCIT:C123060 Membranous Nephropathy - Idiopathic semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis type 11 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:exactMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch NCIT:C173626 Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch NCIT:C155761 Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 7b LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch NCIT:C155763 Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 8b LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:exactMatch NCIT:C176920 Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 LEXMATCH MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch NCIT:C188141 Developmental and Epileptic Encephalopathy 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 14 LEXMATCH MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch NCIT:C123055 Immune Complex Mediated Membranoproliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with spastic diplegia and visual defects LEXMATCH MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 LEXMATCH -MONDO:0014042 left ventricular noncompaction 7 skos:exactMatch NCIT:C157266 Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction type 7 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 5 LEXMATCH MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 LEXMATCH MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 LEXMATCH MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies LEXMATCH -MONDO:0014143 Noonan syndrome 8 skos:exactMatch NCIT:C176936 Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 8 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome type 13 LEXMATCH MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:exactMatch NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy due to myoadenylate deaminase deficiency LEXMATCH MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant LEXMATCH MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch NCIT:C168586 Asparagine Synthetase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label asparagine synthetase deficiency LEXMATCH MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 LEXMATCH MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NCIT:C126347 Adenosine Deaminase 2 Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency LEXMATCH MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 LEXMATCH -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:exactMatch NCIT:C168585 Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 7 LEXMATCH -MONDO:0014378 primary ciliary dyskinesia 29 skos:exactMatch NCIT:C172393 Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 29 LEXMATCH MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:exactMatch NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch NCIT:C175047 Developmental and Epileptic Encephalopathy 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 26 LEXMATCH MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:exactMatch NCIT:C126341 CTLA4 Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 LEXMATCH MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:exactMatch NCIT:C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014548 long QT syndrome 14 skos:exactMatch NCIT:C177534 Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 14 LEXMATCH MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:exactMatch NCIT:C185237 Developmental and Epileptic Encephalopathy 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 31 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:exactMatch NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 6 LEXMATCH MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch NCIT:C155998 Developmental and Epileptic Encephalopathy 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 32 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:exactMatch NCIT:C173103 Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 2, photosensitive LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:exactMatch NCIT:C173099 Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 3, photosensitive LEXMATCH -MONDO:0014659 infantile liver failure syndrome 2 skos:exactMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 2 LEXMATCH MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:exactMatch NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 6 LEXMATCH -MONDO:0014691 Noonan syndrome 9 skos:exactMatch NCIT:C176937 Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 9 LEXMATCH -MONDO:0014693 Noonan syndrome 10 skos:exactMatch NCIT:C176938 Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 10 LEXMATCH MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 40 LEXMATCH MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 LEXMATCH MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2y LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2y LEXMATCH MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome LEXMATCH MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch NCIT:C188142 Developmental and Epileptic Encephalopathy 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 42 LEXMATCH MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:exactMatch NCIT:C177545 Developmental and Epileptic Encephalopathy 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 46 LEXMATCH @@ -2048,8 +1892,6 @@ MONDO:0015249 mitral atresia disorder skos:exactMatch NCIT:C98992 Mitral Valve A MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome LEXMATCH MONDO:0015278 familial pancreatic carcinoma skos:exactMatch NCIT:C43298 Hereditary Pancreatic Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch NCIT:C3266 Hereditary Neoplastic Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch NCIT:C172208 Non-Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch NCIT:C172207 Rapidly Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma LEXMATCH MONDO:0015439 ring chromosome 4 skos:exactMatch NCIT:C121983 ROSE Cluster 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015440 ring chromosome 6 skos:exactMatch NCIT:C121985 ROSE Cluster 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015441 ring chromosome 7 skos:exactMatch NCIT:C121986 ROSE Cluster 7 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2067,7 +1909,6 @@ MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnorm MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:exactMatch NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:exactMatch NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015733 low anorectal malformation skos:exactMatch NCIT:C98975 Low Anorectal Malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015766 cholera skos:exactMatch NCIT:C157812 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera LEXMATCH MONDO:0015792 transient congenital hypothyroidism skos:exactMatch NCIT:C113171 Transient Hypothyroxinemia of Prematurity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch NCIT:C35685 Folliculotropic Mycosis Fungoides semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015809 localized pagetoid reticulosis skos:exactMatch NCIT:C35794 Pagetoid Reticulosis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2075,9 +1916,7 @@ MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch NC MONDO:0015873 Paget disease of the nipple skos:exactMatch NCIT:C3301 Nipple Paget Disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015885 obsolete rare insulin-resistance syndrome skos:exactMatch NCIT:C113169 Insulin Resistance Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch NCIT:C34377 Acquired Hemolytic Anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss LEXMATCH -MONDO:0015925 interstitial lung disease skos:exactMatch NCIT:C164315 Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disorder LEXMATCH -MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monogenic diabetes LEXMATCH +MONDO:0015967 monogenic diabetes skos:exactMatch NCIT:C129739 Monogenic Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015986 bilateral renal agenesis skos:exactMatch NCIT:C101219 Bilateral Renal Agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch NCIT:C98906 Fetal Warfarin Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016027 benign neonatal seizures skos:exactMatch NCIT:C117307 Benign Familial Convulsion semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2096,10 +1935,7 @@ MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch NCIT:C9180 Uter MONDO:0016260 uterine corpus rhabdomyosarcoma skos:exactMatch NCIT:C127058 Uterine Corpus Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch NCIT:C6340 Uterine Corpus Leiomyosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch NCIT:C127167 Ovotesticular Differences of Sex Development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex LEXMATCH MONDO:0016359 limited systemic sclerosis skos:exactMatch NCIT:C116789 Systemic Sclerosis without Skin Involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch NCIT:C178826 Rothmund-Thomson Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch NCIT:C178827 Rothmund-Thomson Syndrome Type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 LEXMATCH MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch NCIT:C97045 Metabolic Bone Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016410 central congenital hypothyroidism skos:exactMatch NCIT:C113144 Central Hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016440 elastofibroma dorsi skos:exactMatch NCIT:C4245 Elastofibroma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2120,8 +1956,8 @@ MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroect MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch NCIT:C4747 Glioneuronal and Neuronal Tumors semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch NCIT:C5505 Central Nervous System Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C3742 Myofibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma LEXMATCH +MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C3742 Myofibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NCIT:C114483 Childhood Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NCIT:C114929 Adult Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017050 intraocular medulloepithelioma skos:exactMatch NCIT:C66806 Ciliary Body Medulloepithelioma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2143,18 +1979,11 @@ MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch NCIT:C122427 Congen MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch NCIT:C34928 Phocomelia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch NCIT:C132080 Congenital Pseudarthrosis of Tibia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017560 congenital genu recurvatum skos:exactMatch NCIT:C103184 Genu Recurvatum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017571 Proteus-like syndrome skos:exactMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome LEXMATCH MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch NCIT:C119678 Mitochondrial Neurogastrointestinal Encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017576 46,XX disorder of sex development skos:exactMatch NCIT:C127169 46,XX Differences of Sex Development semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017582 pituitary adenocarcinoma skos:exactMatch NCIT:C4536 Metastatic Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma LEXMATCH MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch NCIT:C9496 T-Cell/Histiocyte-Rich Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017615 benign familial infantile epilepsy skos:exactMatch NCIT:C183308 Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch NCIT:C179915 PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome LEXMATCH -MONDO:0017648 Sydenham chorea skos:exactMatch NCIT:C168445 Sydenham Chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea LEXMATCH -MONDO:0017776 nocardiosis skos:exactMatch NCIT:C171147 Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:exactMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome LEXMATCH MONDO:0017843 congenital pulmonary sequestration skos:exactMatch NCIT:C97124 Bronchopulmonary Sequestration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch NCIT:C34369 Extrinsic Allergic Alveolitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH @@ -2179,7 +2008,6 @@ MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ov MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C8111 Immature Ovarian Teratoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C34841 Avascular Necrosis of Bone semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018378 osteonecrosis of the jaw skos:exactMatch NCIT:C63924 Osteonecrosis of Jaw semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disorder-associated renal cell carcinoma LEXMATCH MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch NCIT:C27264 Familial Atypical Mole Melanoma Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch NCIT:C123262 Familial Hypocalciuric Hypercalcemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia LEXMATCH @@ -2193,11 +2021,8 @@ MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch NCIT:C5803 MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch NCIT:C173813 Pancreatic Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic squamous cell carcinoma LEXMATCH MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch NCIT:C5728 Solid Pseudopapillary Carcinoma of the Pancreas semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018540 PFAPA syndrome skos:exactMatch NCIT:C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018542 severe congenital neutropenia skos:exactMatch NCIT:C166152 Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia LEXMATCH MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder LEXMATCH MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch NCIT:C3155 Lambert Eaton Myasthenic Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium LEXMATCH -MONDO:0018613 AH amyloidosis skos:exactMatch NCIT:C158962 AH Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis LEXMATCH MONDO:0018626 paratyphoid fever skos:exactMatch NCIT:C34897 Paratyphoid Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018649 obsolete cerebral visual impairment skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch NCIT:C162484 Polymerase Proofreading Associated Polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2206,7 +2031,6 @@ MONDO:0018683 acquired ichthyosis skos:exactMatch NCIT:C112831 Ichthyosis Acquis MONDO:0018690 Holmes-Adie syndrome skos:exactMatch NCIT:C34357 Holmes-Adie Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch NCIT:C7526 Papillary Intralymphatic Angioendothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018715 congenital hemangioma skos:exactMatch NCIT:C3841 Congenital Non-Progressive Hemangioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch NCIT:C172209 Partially Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma LEXMATCH MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch NCIT:C101045 Drug Induced Methemoglobinemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018800 Kallmann syndrome skos:exactMatch NCIT:C75479 Hypogonadotropic Hypogonadism with Anosmia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NCIT:C97071 Congenital Hepatic Fibrosis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2215,15 +2039,13 @@ MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch NCIT:C27125 Prolif MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable LEXMATCH MONDO:0018901 left ventricular noncompaction skos:exactMatch NCIT:C99544 Left Ventricular Non-Compaction Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018919 McCune-Albright syndrome skos:exactMatch NCIT:C48627 McCune-Albright Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018920 peripartum cardiomyopathy skos:exactMatch NCIT:C171602 Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy LEXMATCH MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NCIT:C61262 Sanfilippo Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch NCIT:C4699 Gestational Trophoblastic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018959 potassium-aggravated myotonia skos:exactMatch NCIT:C122788 Potassium Aggravated Myotonia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018961 familial melanoma skos:exactMatch NCIT:C8498 Hereditary Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018965 Alport syndrome skos:exactMatch NCIT:C34842 Alport Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018984 Oroya fever skos:exactMatch NCIT:C128441 Carrión Disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018989 recurrent acute pancreatitis skos:exactMatch NCIT:C184324 Recurrent Acute Pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent acute pancreatitis LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 2 LEXMATCH +MONDO:0018989 recurrent acute pancreatitis skos:exactMatch NCIT:C184324 Recurrent Acute Pancreatitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch NCIT:C8419 Dysplastic Cerebellar Gangliocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019004 kidney Wilms tumor skos:exactMatch NCIT:C40407 Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019012 Carpenter syndrome skos:exactMatch NCIT:C98873 Type II Acrocephalopolysyndactyly semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2241,12 +2063,10 @@ MONDO:0019186 Q fever skos:exactMatch NCIT:C34970 Q Fever semapv:UnspecifiedMatc MONDO:0019194 localized lipodystrophy skos:exactMatch NCIT:C131814 Focal Lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019207 DEND syndrome skos:exactMatch NCIT:C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C146639 Peroxisome Biogenesis Disorders in the Zellweger Spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NCIT:C155747 Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder LEXMATCH MONDO:0019266 SAPHO syndrome skos:exactMatch NCIT:C119049 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin pigmentation disorder LEXMATCH +MONDO:0019288 skin pigmentation disorder skos:exactMatch NCIT:C34557 Skin Pigmentation Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019293 skin vascular disease skos:exactMatch NCIT:C35254 Skin Vascular Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019345 shigellosis skos:exactMatch NCIT:C157978 Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis LEXMATCH MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia LEXMATCH MONDO:0019372 solitary bone cyst skos:exactMatch NCIT:C2904 Simple Bone Cyst semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019402 beta thalassemia skos:exactMatch NCIT:C34375 Beta Thalassemia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2254,7 +2074,6 @@ MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch NCIT:C119996 Pedi MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C61278 Still Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label still disorder LEXMATCH MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch NCIT:C119034 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis LEXMATCH -MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis LEXMATCH MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch NCIT:C27350 Myeloproliferative Neoplasm, Unclassifiable semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch NCIT:C8574 Myelodysplastic Syndrome with Multilineage Dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2271,12 +2090,10 @@ MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch NCIT:C3453 Zollinger El MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch NCIT:C8011 Thyrotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch NCIT:C4348 Non-Functioning Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch NCIT:C35717 Nonspecific Interstitial Pneumonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch NCIT:C161554 Persistent Hyperplastic Primary Vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous LEXMATCH MONDO:0019632 Lyme disease skos:exactMatch NCIT:C45161 Borrelia Burgdorferi Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019636 renal agenesis, unilateral skos:exactMatch NCIT:C101220 Unilateral Renal Agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch NCIT:C131077 Vitamin D Dependent Rickets 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019722 glomerular disorder skos:exactMatch NCIT:C120887 Glomerulopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019729 light and heavy chain deposition disease skos:exactMatch NCIT:C158965 Light and Heavy Chain Deposition Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disorder LEXMATCH MONDO:0019755 developmental defect during embryogenesis skos:exactMatch NCIT:C99267 Congenital Malformation Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019796 acrocephalosyndactyly skos:exactMatch NCIT:C34348 Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch NCIT:C113824 Twin-Twin Transfusion Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2285,12 +2102,10 @@ MONDO:0019809 congenital aortic valve insufficiency skos:exactMatch NCIT:C103936 MONDO:0019903 ring chromosome 2 skos:exactMatch NCIT:C121981 ROSE Cluster 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019904 ring chromosome 3 skos:exactMatch NCIT:C121982 ROSE Cluster 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch NCIT:C7911 Growth Hormone-Producing Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019929 49,XXXXY syndrome skos:exactMatch NCIT:C185635 49,XXXXY Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome LEXMATCH MONDO:0019957 PPoma skos:exactMatch NCIT:C67453 Pancreatic Polypeptide Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019959 glucagonoma skos:exactMatch NCIT:C95597 Pancreatic Glucagonoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019960 VIPoma skos:exactMatch NCIT:C26749 VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019962 thyroid lymphoma skos:exactMatch NCIT:C5265 Thyroid Gland Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch NCIT:C158968 Immunotactoid Glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy LEXMATCH MONDO:0020010 infectious disorder of the nervous system skos:exactMatch NCIT:C27590 Nervous System Infectious Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020040 46,XY disorder of sex development skos:exactMatch NCIT:C127171 46,XY Differences of Sex Development semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch NCIT:C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2308,11 +2123,9 @@ MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-ma MONDO:0020356 coloboma of iris skos:exactMatch NCIT:C98879 Coloboma of the Iris semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020357 coloboma of eyelid skos:exactMatch NCIT:C98878 Coloboma of the Eyelid semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020404 shone complex skos:exactMatch NCIT:C99058 Shone Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020492 hemimegalencephaly skos:exactMatch NCIT:C177779 Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly LEXMATCH MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch NCIT:C34682 Congo-Crimean Hemorrhagic Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020502 yellow fever skos:exactMatch NCIT:C35547 Yellow Fever Virus Infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020513 spermatocytic seminoma skos:exactMatch NCIT:C39921 Testicular Spermatocytic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch NCIT:C171031 Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma LEXMATCH MONDO:0020519 hand-Schuller-Christian disease skos:exactMatch NCIT:C6920 Hand-Schuller-Christian Disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020520 adult pulmonary Langerhans cell histiocytosis skos:exactMatch NCIT:C142833 Pulmonary Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84537 Long-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2349,7 +2162,7 @@ MONDO:0020635 anaplastic meningioma skos:exactMatch NCIT:C4051 Anaplastic (Malig MONDO:0020638 superficial spreading melanoma skos:exactMatch NCIT:C9152 Low-CSD Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020641 respiratory tract neoplasm skos:exactMatch NCIT:C3355 Respiratory System Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020644 lung non-Hodgkin lymphoma skos:exactMatch NCIT:C5684 Lung Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch NCIT:C129732 Autosomal Dominant Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant osteopetrosis LEXMATCH +MONDO:0020645 autosomal dominant osteopetrosis skos:exactMatch NCIT:C129732 Autosomal Dominant Osteopetrosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020646 ocular adnexal lymphoma skos:exactMatch NCIT:C88145 Ocular Adnexal Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020649 warty carcinoma of the penis skos:exactMatch NCIT:C6981 Warty Carcinoma of the Penis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020653 vaginal adenocarcinoma skos:exactMatch NCIT:C7981 Vaginal Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2372,10 +2185,8 @@ MONDO:0020703 erythroid neoplasm skos:exactMatch NCIT:C7064 Erythroid Neoplasm s MONDO:0020706 Heberden's node skos:exactMatch NCIT:C34671 Heberden's Node semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020708 brachial amyotrophic diplegia skos:exactMatch NCIT:C133085 Brachial Amyotrophic Diplegia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020710 amnionitis skos:exactMatch NCIT:C50459 Amnionitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020712 46,XY sex reversal 1 skos:exactMatch NCIT:C128188 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy sex reversal type 1 LEXMATCH MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch NCIT:C123265 X-linked Hypophosphatemic Rickets semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch NCIT:C123171 Medullary Cystic Kidney Disease Type I semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 LEXMATCH MONDO:0020744 Mobitz type I atrioventricular block skos:exactMatch NCIT:C62017 AV Block Second Degree Mobitz Type I semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020757 sporadic hemiplegic migraine skos:exactMatch NCIT:C117011 Sporadic Hemiplegic Migraine semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020760 skin squamous cell carcinoma in situ skos:exactMatch NCIT:C2906 Skin Squamous Cell Carcinoma In Situ semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2666,7 +2477,6 @@ MONDO:0021607 eyelid seborrheic keratosis skos:exactMatch NCIT:C4356 Eyelid Sebo MONDO:0021627 eyelid capillary hemangioma skos:exactMatch NCIT:C4357 Eyelid Capillary Hemangioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021629 uterine ligament neoplasm skos:exactMatch NCIT:C40133 Uterine Ligament Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021631 brain astrocytoma skos:exactMatch NCIT:C60780 Brain Astrocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary brain neoplasm LEXMATCH MONDO:0021632 primary brain neoplasm skos:exactMatch NCIT:C4952 Localized Brain Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021634 epithelial skin neoplasm skos:exactMatch NCIT:C7342 Epithelial Skin Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021638 low grade astrocytic tumor skos:exactMatch NCIT:C116342 Low Grade Astrocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2693,7 +2503,6 @@ MONDO:0021977 basaloid follicular hamartoma skos:exactMatch NCIT:C4749 Basal Cel MONDO:0022022 bowenoid papulosis skos:exactMatch NCIT:C8374 Bowenoid Papulosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022057 calcifying epithelial odontogenic tumor skos:exactMatch NCIT:C54301 Calcifying Epithelial Odontogenic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022220 Parinaud syndrome skos:exactMatch NCIT:C54102 Parinaud Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022394 cervical intraepithelial neoplasia skos:exactMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical intraepithelial neoplasia LEXMATCH MONDO:0022435 Mauriac syndrome skos:exactMatch NCIT:C130997 Mauriac Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022578 childhood bladder carcinoma skos:exactMatch NCIT:C118816 Childhood Bladder Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022642 childhood carcinoid tumor skos:exactMatch NCIT:C118810 Childhood Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2705,7 +2514,7 @@ MONDO:0023122 familial prostate carcinoma skos:exactMatch NCIT:C103817 Hereditar MONDO:0023283 ovarian granulosa cell tumor skos:exactMatch NCIT:C6261 Ovarian Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023483 infectious myositis skos:exactMatch NCIT:C26984 Infectious Myositis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023528 KSHV inflammatory cytokine syndrome skos:exactMatch NCIT:C125711 KSHV Inflammatory Cytokine Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal papillomatosis LEXMATCH +MONDO:0023597 laryngeal papillomatosis skos:exactMatch NCIT:C157733 Laryngeal Papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023601 non-classic congenital adrenal hyperplasia skos:exactMatch NCIT:C131442 Non-Classic Congenital Adrenal Hyperplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023619 lentigo maligna melanoma skos:exactMatch NCIT:C9151 Lentigo Maligna Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023644 lip and oral cavity carcinoma skos:exactMatch NCIT:C9315 Lip and Oral Cavity Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2752,8 +2561,8 @@ MONDO:0024469 chondrogenic neoplasm skos:exactMatch NCIT:C4755 Chondrogenic Neop MONDO:0024470 benign chondrogenic neoplasm skos:exactMatch NCIT:C8592 Benign Chondrogenic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024474 intraepithelial neoplasia skos:exactMatch NCIT:C8366 Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024475 squamous cell intraepithelial neoplasia skos:exactMatch NCIT:C8334 Squamous Cell Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch NCIT:C7103 Liver and Intrahepatic Bile Duct Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch NCIT:C7106 Liver and Intrahepatic Bile Duct Epithelial Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:exactMatch NCIT:C7103 Liver and Intrahepatic Bile Duct Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024478 mesenchymal hamartoma skos:exactMatch NCIT:C40427 Mesenchymal Hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024482 eccrine sweat gland hamartoma skos:exactMatch NCIT:C5564 Eccrine Sweat Gland Hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024483 urothelial hyperplasia skos:exactMatch NCIT:C27877 Urothelial Hyperplasia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2821,32 +2630,18 @@ MONDO:0024890 pineal parenchymal cell neoplasm skos:exactMatch NCIT:C6965 Pineal MONDO:0024892 soft tissue amyloid neoplasm skos:exactMatch NCIT:C8323 Soft Tissue Amyloid Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025419 furunculosis skos:exactMatch NCIT:C34629 Furunculosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025481 zoonosis skos:exactMatch NCIT:C35803 Zoonotic Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026777 VEXAS syndrome skos:exactMatch NCIT:C181924 VEXAS Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome LEXMATCH MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch NCIT:C186788 Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 LEXMATCH MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 23 LEXMATCH MONDO:0027766 generalized lipodystrophy skos:exactMatch NCIT:C131815 Generalized Lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0027772 lung colloid adenocarcinoma skos:exactMatch NCIT:C45512 Lung Colloid Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia LEXMATCH MONDO:0030604 cystic partially differentiated nephroblastoma skos:exactMatch NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030705 Trichomonas prostatitis skos:exactMatch NCIT:C35176 Trichomonas Prostatitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030706 Trichomonas cystitis skos:exactMatch NCIT:C35405 Trichomonas Cystitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030707 Trichomonas balanoposthitis skos:exactMatch NCIT:C35406 Trichomonas Balanoposthitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030708 Trichomonas cervicitis skos:exactMatch NCIT:C35588 Trichomonas Cervicitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030894 AMED syndrome, digenic skos:exactMatch NCIT:C185246 AMeD Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome LEXMATCH -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac, facial, and digital anomalies with developmental delay LEXMATCH -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:exactMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 LEXMATCH MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch NCIT:C179296 Developmental and Epileptic Encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:exactMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:exactMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 7, nonphotosensitive LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:exactMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:exactMatch NCIT:C177121 Noonan Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 LEXMATCH -MONDO:0033821 fungal keratitis skos:exactMatch NCIT:C128370 Fungal Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch NCIT:C181652 Monoclonal Mast Cell Activation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome LEXMATCH -MONDO:0035450 aprosencephaly skos:exactMatch NCIT:C98824 Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly LEXMATCH MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch NCIT:C80328 B Lymphoblastic Leukemia/Lymphoma with Recurrent Genetic Abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035737 acquired factor V deficiency skos:exactMatch NCIT:C131624 Acquired Factor V Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:exactMatch NCIT:C131625 Acquired Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:exactMatch NCIT:C131627 Acquired Factor XI Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency LEXMATCH MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch NCIT:C80331 B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch NCIT:C80332 B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); MLL Rearranged semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch NCIT:C80334 B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2903,7 +2698,7 @@ MONDO:0043240 hemophilic arthropathy skos:exactMatch NCIT:C27039 Hemophilic Arth MONDO:0043243 leukoplakia skos:exactMatch NCIT:C3186 Leukoplakia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043251 odontoma skos:exactMatch NCIT:C3287 Odontoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043287 superior vena cava syndrome skos:exactMatch NCIT:C3396 Superior Vena Cava Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic cheilitis LEXMATCH +MONDO:0043300 actinic cheilitis skos:exactMatch NCIT:C183562 Actinic Cheilitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043320 piriformis syndrome skos:exactMatch NCIT:C85012 Piriformis Muscle Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043346 progressive transformation of germinal centers skos:exactMatch NCIT:C38408 Progressive Transformation of Germinal Centers semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2924,7 +2719,7 @@ MONDO:0043579 enteritis skos:exactMatch NCIT:C26765 Enteritis semapv:Unspecified MONDO:0043653 herpes labialis skos:exactMatch NCIT:C34695 Cold Sore semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043683 Leriche syndrome skos:exactMatch NCIT:C34773 Leriche Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043707 obsolete mediastinal disorder skos:exactMatch NCIT:C26826 Mediastinal Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple organ dysfunction syndrome LEXMATCH +MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C179648 Multiple Organ Dysfunction Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043731 lytic metastatic bone lesion skos:exactMatch NCIT:C35371 Lytic Metastatic Bone Lesion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043735 osteoradionecrosis skos:exactMatch NCIT:C63707 Osteoradionecrosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0043762 tubal pregnancy skos:exactMatch NCIT:C92946 Tubal Pregnancy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2965,7 +2760,6 @@ MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch NC MONDO:0044740 salivary gland squamous cell carcinoma skos:exactMatch NCIT:C7991 Salivary Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044743 major salivary gland cancer skos:exactMatch NCIT:C4762 Malignant Major Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044746 zoonotic bacterial infection skos:exactMatch NCIT:C35373 Zoonotic Bacterial Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044753 lumbar spinal stenosis skos:exactMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lumbar spinal stenosis LEXMATCH MONDO:0044764 benign choroid plexus neoplasm skos:exactMatch NCIT:C8405 Benign Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044765 steroid-resistant nephrotic syndrome skos:exactMatch NCIT:C122798 Nephrotic Syndrome of Childhood - Steroid Resistant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044767 childhood adrenal gland pheochromocytoma skos:exactMatch NCIT:C118822 Childhood Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2973,8 +2767,8 @@ MONDO:0044768 vagus nerve paraganglioma skos:exactMatch NCIT:C8427 Vagal Paragan MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044784 myxoma skos:exactMatch NCIT:C6577 Myxoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044788 perihilar intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C96804 Large Duct Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C3944 Congenital Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Giant Congenital Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C3944 Congenital Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044794 benign melanocytic skin nevus skos:exactMatch NCIT:C7571 Benign Skin Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044795 epithelioid cell nevus skos:exactMatch NCIT:C66757 Epithelioid Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044796 spindle cell nevus skos:exactMatch NCIT:C66758 Spindle Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3007,13 +2801,12 @@ MONDO:0044937 rectal carcinoma skos:exactMatch NCIT:C9382 Rectal Carcinoma semap MONDO:0044964 oral cavity mucoepidermoid carcinoma skos:exactMatch NCIT:C8177 Oral Cavity Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045019 lactation disease skos:exactMatch NCIT:C79606 Lactation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactation disorder LEXMATCH MONDO:0045048 toxemia of pregnancy skos:exactMatch NCIT:C34943 Toxemia of Pregnancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0045050 nuclear cataract skos:exactMatch NCIT:C135176 Nuclear Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nuclear cataract LEXMATCH -MONDO:0045051 cortical cataract skos:exactMatch NCIT:C135177 Cortical Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical cataract LEXMATCH +MONDO:0045050 nuclear cataract skos:exactMatch NCIT:C135176 Nuclear Cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0045051 cortical cataract skos:exactMatch NCIT:C135177 Cortical Cataract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045052 benign osteogenic neoplasm skos:exactMatch NCIT:C6602 Benign Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045053 osteogenic neoplasm skos:exactMatch NCIT:C6603 Osteogenic Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045054 cancer-related condition skos:exactMatch NCIT:C8278 Cancer-Related Condition semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045056 grade II meningioma skos:exactMatch NCIT:C38937 Grade 2 Meningioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0045057 delirium skos:exactMatch NCIT:C2981 Delirium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delirium LEXMATCH MONDO:0045058 ACTH-producing pituitary gland neoplasm skos:exactMatch NCIT:C7909 ACTH-Producing Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045060 intraductal cribriform breast adenocarcinoma skos:exactMatch NCIT:C5138 Breast Ductal Carcinoma In Situ, Cribriform Pattern semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045063 major salivary gland adenoid cystic carcinoma skos:exactMatch NCIT:C5905 Major Salivary Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3022,11 +2815,6 @@ MONDO:0045069 minor salivary gland carcinoma skos:exactMatch NCIT:C5957 Minor Sa MONDO:0045070 digestive system melanoma skos:exactMatch NCIT:C7091 Mucosal Melanoma of the Digestive System semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045071 mycosis fungoides variant skos:exactMatch NCIT:C39644 Mycosis Fungoides Variant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia skos:exactMatch NCIT:C4065 Ectopic Hormone Secretion Syndrome Associated with Neoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 LEXMATCH -MONDO:0054677 combined oxidative phosphorylation deficiency 33 skos:exactMatch NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 33 LEXMATCH -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:exactMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 11b with atopic dermatitis LEXMATCH -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteasome-associated autoinflammatory syndrome type 1 LEXMATCH MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder LEXMATCH MONDO:0056805 benign peripheral nerve granular cell tumor skos:exactMatch NCIT:C5502 Benign Peripheral Nerve Granular Cell Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0056806 non-small cell squamous lung carcinoma skos:exactMatch NCIT:C133254 Lung Non-Small Cell Squamous Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3051,14 +2839,13 @@ MONDO:0100067 childhood spindle cell rhabdomyosarcoma skos:exactMatch NCIT:C1233 MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy LEXMATCH MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal disorder LEXMATCH MONDO:0100118 genetic skin disorder skos:exactMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genodermatosis LEXMATCH -MONDO:0100137 telomere syndrome skos:exactMatch NCIT:C152065 Telomere Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telomere syndrome LEXMATCH +MONDO:0100137 telomere syndrome skos:exactMatch NCIT:C152065 Telomere Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100151 nephropathic cystinosis skos:exactMatch NCIT:C129932 Nephropathic Cystinosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch NCIT:C131677 Megaloblastic Anemia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100192 liver failure skos:exactMatch NCIT:C26922 Liver Failure semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100233 long COVID-19 skos:exactMatch NCIT:C179263 Post-Acute Sequelae of COVID-19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label post-acute sequelae of covid-19 LEXMATCH MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch NCIT:C127170 46,XX Testicular Differences of Sex Development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100250 46,XX sex reversal 1 skos:exactMatch NCIT:C179867 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 LEXMATCH -MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic biliary atresia LEXMATCH +MONDO:0100285 extrahepatic biliary atresia skos:exactMatch NCIT:C97069 Extrahepatic Biliary Atresia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100290 colon serrated polyposis skos:exactMatch NCIT:C96470 Colon Serrated Polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia skos:exactMatch NCIT:C130043 Early T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100310 hereditary cerebellar ataxia skos:exactMatch NCIT:C140268 Hereditary Cerebellar Ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3080,19 +2867,19 @@ MONDO:0100407 acute myeloid leukemia, t(11;15)(p15;q35) skos:exactMatch NCIT:C13 MONDO:0100414 acute myeloid leukemia, CEBPA gene mutation skos:exactMatch NCIT:C151898 Acute Myeloid Leukemia with Germline CEBPA Mutation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication skos:exactMatch NCIT:C126748 Acute Myeloid Leukemia with FLT3/ITD Mutation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100470 reactive airway disease skos:exactMatch NCIT:C113673 Reactive Airway Disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch NCIT:C128417 Extensively Drug-Resistant Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensively drug-resistant tuberculosis LEXMATCH +MONDO:0100482 extensively drug-resistant tuberculosis skos:exactMatch NCIT:C128417 Extensively Drug-Resistant Tuberculosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100505 food dermatitis skos:exactMatch NCIT:C34534 Dermatitis due to Food taken Internally semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100514 familial ovarian carcinoma skos:exactMatch NCIT:C36102 Hereditary Ovarian Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0200000 uterine ligament adenosarcoma skos:exactMatch NCIT:C102570 Broad Ligament Adenosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0600002 hemorrhagic fever skos:exactMatch NCIT:C36169 Hemorrhagic Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0600029 restrictive pulmonary disease skos:exactMatch NCIT:C91762 Restrictive Lung Disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0700048 hand-foot syndrome skos:exactMatch NCIT:C27177 Palmar-Plantar Erythrodysthesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmar-plantar erythrodysthesia LEXMATCH +MONDO:0700048 hand-foot syndrome skos:exactMatch NCIT:C27177 Palmar-Plantar Erythrodysthesia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700051 liver abscess (disease) skos:exactMatch NCIT:C99089 Liver Abscess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morton neuroma LEXMATCH -MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robertsonian translocation down syndrome LEXMATCH +MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700086 uniparental disomy skos:exactMatch NCIT:C85215 Uniparental Disomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C1535926 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder LEXMATCH MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch NCIT:C130986 Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome LEXMATCH MONDO:0700134 bovine neoplasm skos:exactMatch NCIT:C134527 Bovine Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700136 bovine protoporphyria skos:exactMatch NCIT:C131472 Bovine Protoporphyria semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -3156,16 +2943,16 @@ MONDO:0700197 porcine leukemia skos:exactMatch NCIT:C141365 Porcine Leukemia sem MONDO:0700198 porcine lymphoma skos:exactMatch NCIT:C134786 Porcine Lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700199 sheep lung adenocarcinoma skos:exactMatch NCIT:C147532 Sheep Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis LEXMATCH -MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label group b streptococcal infection LEXMATCH -MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges LEXMATCH +MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy LEXMATCH MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch NCIT:C98889 Congenital Central Hypoventilation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia LEXMATCH MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35716 Idiopathic Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800106 disruptive behavior disorder skos:exactMatch NCIT:C99753 Disruptive Behavior Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disruptive behavior disorder LEXMATCH -MONDO:0800113 necrotizing vasculitis skos:exactMatch NCIT:C70635 Necrotizing Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing vasculitis LEXMATCH -MONDO:0800133 pulmonary hypoplasia skos:exactMatch NCIT:C99035 Pulmonary Hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypoplasia LEXMATCH +MONDO:0800106 disruptive behavior disorder skos:exactMatch NCIT:C99753 Disruptive Behavior Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800113 necrotizing vasculitis skos:exactMatch NCIT:C70635 Necrotizing Vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800133 pulmonary hypoplasia skos:exactMatch NCIT:C99035 Pulmonary Hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0850046 amniotic fluid embolism skos:exactMatch NCIT:C111911 Amniotic Fluid Embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism LEXMATCH MONDO:0850110 melanoma in congenital melanocytic nevus skos:exactMatch NCIT:C48613 Melanoma in Congenital Melanocytic Nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma in congenital melanocytic nevus LEXMATCH MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch NCIT:C139012 Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 2cb3509f..432b17e7 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -11,7 +11,7 @@ MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007175 PR interval, variation 1N skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007175 PR interval, variation in skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007183 azotemia, familial skos:exactMatch OMIM:109160 azotemia, familial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch OMIM:114600 canine teeth, absence of upper permanent semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -28,7 +28,6 @@ MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch OMIM:122200 corne MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007391 coxa vara skos:exactMatch OMIM:122750 coxa vara semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch OMIM:124400 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007423 deafness, mid-tone neural skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007444 dermal Ridges, patternless skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -41,8 +40,6 @@ MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMat MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:609943 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:614562 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007629 fragile site 10Q23 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -51,18 +48,18 @@ MONDO:0007657 giant neutrophil leukocytes skos:exactMatch OMIM:137500 giant neut MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007777 hypertaurinuric cardiomyopathy skos:exactMatch OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007788 hypertriglyceridemia, familial skos:exactMatch OMIM:145750 hypertriglyceridemia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007789 hypertrophia musculorum vera skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007802 hypospadias 3, autosomal skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:146840 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant LEXMATCH +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome LEXMATCH +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant LEXMATCH MONDO:0007847 keloid formation skos:exactMatch OMIM:148100 keloid formation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007851 keratoconus 1 skos:exactMatch OMIM:148300 keratoconus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007903 Li-Fraumeni syndrome 1 skos:exactMatch OMIM:609266 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007952 maxillofacial dysostosis skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -96,7 +93,6 @@ MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch OMIM MONDO:0008248 pigmented purpuric eruption skos:exactMatch OMIM:172900 pigmented purpuric eruption semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008265 polycystic liver disease 1 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch OMIM:175510 gist-plus syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:607595 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008330 pseudomonilethrix skos:exactMatch OMIM:177750 pseudomonilethrix semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008342 pubic bone dysplasia skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -110,10 +106,8 @@ MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch OMIM:183 MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:277610 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008494 cryohydrocytosis skos:exactMatch OMIM:185020 cryohydrocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008500 striae distensae, familial skos:exactMatch OMIM:185200 striae distensae, familial semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008523 Blau syndrome skos:exactMatch OMIM:609464 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008528 tear protein, anodal skos:exactMatch OMIM:186890 tear protein, anodal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -132,13 +126,11 @@ MONDO:0008701 achondrogenesis type IA skos:exactMatch OMIM:200600 achondrogenesi MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:245130 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008791 anencephaly 1 skos:exactMatch OMIM:206500 anencephaly 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch OMIM:603463 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch OMIM:212093 cardiac valvular dysplasia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch OMIM:212130 cardiomyopathy associated with myopathy and sudden death semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch OMIM:212160 carnitine deficiency, myopathic semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -153,14 +145,11 @@ MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch OMIM:222400 diaphragmatic h MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009194 immunodeficiency 32B skos:exactMatch OMIM:614894 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 gm1-gangliosidosis, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 gm1-gangliosidosis, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch OMIM:233430 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch OMIM:233670 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009366 normal pressure hydrocephalus skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -181,7 +170,6 @@ MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMat MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch OMIM:253900 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009686 musk, inability to smell skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 nephrotic syndrome, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -192,7 +180,7 @@ MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch OMIM:258700 opti MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch OMIM:263450 polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009901 Bartsocas-Papas syndrome skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009944 pyloric atresia skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -210,26 +198,22 @@ MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch OMIM:276100 tryptopha MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch OMIM:277150 van bogaert-hozay syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch OMIM:277720 whistling face syndrome, recessive form semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis skos:exactMatch OMIM:278100 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010244 CGF1 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010258 MEHMO syndrome skos:exactMatch OMIM:300987 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch OMIM:300228 testicular germ cell tumor 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010290 goiter, multinodular 2 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch OMIM:300301 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010297 FG syndrome 2 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010316 FG syndrome 3 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch OMIM:300220 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:exactMatch OMIM:300494 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -241,7 +225,6 @@ MONDO:0010350 premature ovarian failure 2A skos:exactMatch OMIM:300511 premature MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010366 FG syndrome 5 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia skos:exactMatch OMIM:300584 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010373 premature ovarian failure 2B skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010377 myopia 13, X-linked skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010384 hypospadias 1, X-linked skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -273,7 +256,6 @@ MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch OMIM:300984 MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010540 bullous dystrophy, macular type skos:exactMatch OMIM:302000 bullous dystrophy, hereditary macular iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch OMIM:138990 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010628 immunoglobulin M, level of skos:exactMatch OMIM:308250 immunoglobulin m, level of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010629 impacted teeth, multiple skos:exactMatch OMIM:308280 impacted teeth, multiple semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -281,8 +263,6 @@ MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephroc MONDO:0010646 macular dystrophy, X-linked skos:exactMatch OMIM:309100 macular dystrophy, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010685 myopia 1, X-linked skos:exactMatch OMIM:310460 myopia 1, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch OMIM:307300 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch OMIM:312100 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch OMIM:312500 reticuloendotheliosis, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010751 unique green phenomenon skos:exactMatch OMIM:314380 unique green phenomenon semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch OMIM:314400 cardiac valvular dysplasia, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -299,14 +279,11 @@ MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:60 MONDO:0010846 exostoses, multiple, type III skos:exactMatch OMIM:600209 exostoses, multiple, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010859 atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch OMIM:600593 craniosynostosis, adelaide iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch OMIM:600634 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010920 microtia skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010929 craniosynostosis 4 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:614696 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010957 agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations skos:exactMatch OMIM:600908 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010966 achondrogenesis type IB skos:exactMatch OMIM:600972 achondrogenesis, iia 1b semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:exactMatch OMIM:600996 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -336,11 +313,9 @@ MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch OMIM:603221 myopia 3, MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011346 xanthinuria type II skos:exactMatch OMIM:603592 xanthinuria, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch OMIM:607569 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011370 Stargardt disease 4 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011381 dominant beta-thalassemia skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch OMIM:611155 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -367,22 +342,22 @@ MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch OMIM:606631 cam MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011704 glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011704 obsolete glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch OMIM:606721 lipodystrophy, familial partial, iia 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch OMIM:606785 crigler-najjar syndrome, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd, severe early-onset LEXMATCH +MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary disorder, chronic obstructive, severe early-onset LEXMATCH MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011800 glioma susceptibility 4 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011806 osteofibrous dysplasia skos:exactMatch OMIM:609143 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:613832 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -394,7 +369,6 @@ MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:e MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch OMIM:271550 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -409,7 +383,6 @@ MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch O MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011999 otosclerosis 3 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012017 Parkes Weber syndrome skos:exactMatch OMIM:608355 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -447,7 +420,6 @@ MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatc MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, iia a4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch OMIM:159000 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch OMIM:609241 schindler disease, iia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012227 myopia 7 skos:exactMatch OMIM:609256 myopia 7 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -456,9 +428,8 @@ MONDO:0012229 myopia 9 skos:exactMatch OMIM:609258 myopia 9 semapv:UnspecifiedMa MONDO:0012230 myopia 10 skos:exactMatch OMIM:609259 myopia 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012236 keratoconus 4 skos:exactMatch OMIM:609271 keratoconus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012239 nemaline myopathy 1 skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:609307 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -471,10 +442,10 @@ MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch OMI MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012302 parietal foramina 3 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012337 glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012357 glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012365 gallbladder disease 2 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012366 gallbladder disease 3 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -529,10 +500,10 @@ MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch OMIM: MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012646 glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012663 Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -571,9 +542,7 @@ MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatc MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:233500 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012878 Cowden syndrome 2 skos:exactMatch OMIM:612359 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -633,7 +602,7 @@ MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch OMIM:613225 MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013196 Lynch syndrome 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013214 bile acid malabsorption, primary skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -661,7 +630,6 @@ MONDO:0013398 acne inversa, familial, 3 skos:exactMatch OMIM:613737 acne inversa MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:exactMatch OMIM:613751 heterotaxy, visceral, 4, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013462 fucosyltransferase 6 deficiency skos:exactMatch OMIM:613852 fucosyltransferase 6 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013464 episodic ataxia type 5 skos:exactMatch OMIM:613855 episodic ataxia, iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013476 hypertrophic cardiomyopathy 19 skos:exactMatch OMIM:613875 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013496 IgA nephropathy, susceptibility to, 2 skos:exactMatch OMIM:613944 iga nephropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 amyloidosis, primary localized cutaneous, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -711,16 +679,15 @@ MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:61432 MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch OMIM:614321 myopathy, distal, tateyama iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch OMIM:614327 tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013699 colorectal cancer, hereditary nonpolyposis, type 4 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013699 Lynch syndrome 4 skos:exactMatch OMIM:614337 lynch syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013710 colorectal cancer, hereditary nonpolyposis, type 5 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013710 Lynch syndrome 5 skos:exactMatch OMIM:614350 lynch syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 aortic aneurysm, familial abdominal, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013724 bacteremia, susceptibility to, 2 skos:exactMatch OMIM:614383 bacteremia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013728 pregnancy loss, recurrent, susceptibility to, 2 skos:exactMatch OMIM:614390 pregnancy loss, recurrent, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013729 pregnancy loss, recurrent, susceptibility to, 3 skos:exactMatch OMIM:614391 pregnancy loss, recurrent, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013732 glucocorticoid therapy, response to skos:exactMatch OMIM:614400 glucocorticoid therapy, response to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013736 myopathy, centronuclear, 3 skos:exactMatch OMIM:614408 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013739 chilblain lupus 2 skos:exactMatch OMIM:614415 chilblain lupus 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:exactMatch OMIM:614420 systemic lupus erythematosus 16 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013746 ventricular septal defect 1 skos:exactMatch OMIM:614429 ventricular septal defect 1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -728,7 +695,6 @@ MONDO:0013747 atrioventricular septal defect 4 skos:exactMatch OMIM:614430 atrio MONDO:0013748 ventricular septal defect 2 skos:exactMatch OMIM:614431 ventricular septal defect 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013749 ventricular septal defect 3 skos:exactMatch OMIM:614432 ventricular septal defect 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013752 hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 hypoplastic left heart syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch OMIM:608591 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013765 coronary heart disease, susceptibility to, 6 skos:exactMatch OMIM:614466 coronary heart disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:exactMatch OMIM:614473 arterial calcification, generalized, of infancy, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013769 atrioventricular septal defect 5 skos:exactMatch OMIM:614474 atrioventricular septal defect 5 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -770,7 +736,6 @@ MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermed MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch OMIM:615031 neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014017 autism, susceptibility to, 18 skos:exactMatch OMIM:615032 intellectual developmental disorder with autism and macrocephaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014041 autism, susceptibility to, 19 skos:exactMatch OMIM:615091 autism, susceptibility to, 19 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014045 Cowden syndrome 3 skos:exactMatch OMIM:615106 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014049 urofacial syndrome 2 skos:exactMatch OMIM:615112 urofacial syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:exactMatch OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -782,7 +747,6 @@ MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:exactMatc MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch OMIM:615160 mitochondrial complex 3 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014079 restless legs syndrome, susceptibility to, 8 skos:exactMatch OMIM:615197 restless legs syndrome, susceptibility to, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:exactMatch OMIM:615219 hydrocephalus, congenital, 2, with or without brain or eye anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch OMIM:616964 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014090 polydactyly, postaxial, type A6 skos:exactMatch OMIM:615226 polydactyly, postaxial, iia a6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014099 nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 nephrotic syndrome, iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:exactMatch OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -820,7 +784,6 @@ MONDO:0014232 craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 MONDO:0014239 testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 testicular anomalies with or without congenital heart disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014240 periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 periventricular nodular heterotopia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:exactMatch OMIM:615545 leukemia, acute lymphoblastic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch OMIM:208080 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014257 nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 nephrotic syndrome, iia 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014264 otosclerosis 10 skos:exactMatch OMIM:615589 otosclerosis 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -836,7 +799,6 @@ MONDO:0014340 atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 atri MONDO:0014343 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 desbuquois dysplasia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014344 congenital heart defects, multiple types, 4 skos:exactMatch OMIM:615779 congenital heart defects, multiple types, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014347 short stature with microcephaly and distinctive facies skos:exactMatch OMIM:615789 short stature with microcephaly and distinctive facies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014353 immunodeficiency 23 skos:exactMatch OMIM:216920 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch OMIM:615824 mitochondrial complex 3 deficiency, nuclear iia 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014362 chromosome 16 inversion, 0.45-Mb skos:exactMatch OMIM:615835 chromosome 16 inversion, 0.45-mb semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -931,7 +893,6 @@ MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014804 sideroblastic anemia 3 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:271225 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch OMIM:616873 immunodeficiency, common variable, 13 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1025,9 +986,6 @@ MONDO:0015020 intellectual disability, autosomal recessive 59 skos:exactMatch OM MONDO:0015022 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, iia 5a semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:600208 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:153640 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch OMIM:605249 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018023 hemoglobin M disease skos:exactMatch OMIM:617971 methemoglobinemia, beta iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1038,6 +996,7 @@ MONDO:0018805 bile duct cyst skos:exactMatch OMIM:603003 bile duct cysts semapv: MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018828 pseudo-TORCH syndrome 2 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1086,7 +1045,6 @@ MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:exactMatch OMIM:6 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:exactMatch OMIM:603511 muscular dystrophy, limb-girdle, autosomal dominant 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021024 malaria, susceptibility to skos:exactMatch OMIM:611162 malaria, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021547 amelogenesis imperfecta type 3B skos:exactMatch OMIM:617607 amelogenesis imperfecta, iia 3b semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch OMIM:159001 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021573 oocyte maturation defect 2 skos:exactMatch OMIM:616780 oocyte maturation defect 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021574 oocyte maturation defect 3 skos:exactMatch OMIM:617712 oocyte maturation defect 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021575 oocyte maturation defect 4 skos:exactMatch OMIM:617743 oocyte maturation defect 4 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1107,11 +1065,11 @@ MONDO:0024570 hyperparathyroidism 4 skos:exactMatch OMIM:617343 hyperparathyroid MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type skos:exactMatch OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024773 spermatogenic failure, x-linked, 4 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024773 spermatogenic failure, X-linked, 4 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:exactMatch OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024781 immunodeficiency 102 skos:exactMatch OMIM:301082 immunodeficiency 102 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, x-linked skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:exactMatch OMIM:301058 developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025356 azoospermia, obstructive, with nephrolithiasis skos:exactMatch OMIM:301060 azoospermia, obstructive, with nephrolithiasis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 skos:exactMatch OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial form, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1227,7 +1185,6 @@ MONDO:0030436 anemia, sideroblastic, 5 skos:exactMatch OMIM:619523 anemia, sider MONDO:0030437 congenital disorder of glycosylation, type IIw skos:exactMatch OMIM:619525 congenital disorder of glycosylation, iia iiw semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch OMIM:619531 cone-rod dystrophy 22 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030448 immunodeficiency 86 skos:exactMatch OMIM:619549 immunodeficiency 86 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030449 deafness, autosomal recessive 118, with cochlear aplasia skos:exactMatch OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030453 developmental and epileptic encephalopathy 97 skos:exactMatch OMIM:619561 developmental and epileptic encephalopathy 97 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030454 Joubert syndrome 39 skos:exactMatch OMIM:619562 joubert syndrome 39 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030455 dystonia 31 skos:exactMatch OMIM:619565 dystonia 31 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1292,12 +1249,11 @@ MONDO:0030693 immunodeficiency 96 skos:exactMatch OMIM:619774 immunodeficiency 9 MONDO:0030695 developmental and epileptic encephalopathy 100 skos:exactMatch OMIM:619777 developmental and epileptic encephalopathy 100 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch OMIM:619780 mitochondrial DNA depletion syndrome 20 (mngie type) semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030697 myopia 28, autosomal recessive skos:exactMatch OMIM:619781 myopia 28, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030711 anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive skos:exactMatch OMIM:619789 anemia, congenital dyserythropoietic, iia iiib, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:exactMatch OMIM:619789 anemia, congenital dyserythropoietic, iia iiib, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:exactMatch OMIM:619795 osteogenesis imperfecta, iia 22 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030716 spermatogenic failure 66 skos:exactMatch OMIM:619799 spermatogenic failure 66 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030717 immunodeficiency 97 with autoinflammation skos:exactMatch OMIM:619802 immunodeficiency 97 with autoinflammation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030718 spermatogenic failure 67 skos:exactMatch OMIM:619803 spermatogenic failure 67 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030719 deafness, autosomal dominant 82 skos:exactMatch OMIM:619804 deafness, autosomal dominant 82 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030721 spermatogenic failure 68 skos:exactMatch OMIM:619805 spermatogenic failure 68 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:exactMatch OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030727 developmental and epileptic encephalopathy 101 skos:exactMatch OMIM:619814 developmental and epileptic encephalopathy 101 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1321,7 +1277,6 @@ MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch OMIM:619845 retinitis pigm MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch OMIM:619806 spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 LEXMATCH MONDO:0030809 spermatogenic failure 72 skos:exactMatch OMIM:619867 spermatogenic failure 72 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:exactMatch OMIM:619868 cholestasis, progressive familial intrahepatic, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) skos:exactMatch OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1371,7 +1326,6 @@ MONDO:0030898 immunodeficiency 76 skos:exactMatch OMIM:619164 immunodeficiency 7 MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures skos:exactMatch OMIM:619150 intellectual developmental disorder with paroxysmal dyskinesia or seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:exactMatch OMIM:619170 mitochondrial complex 1 deficiency, nuclear iia 36 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:exactMatch OMIM:619172 hermansky-pudlak syndrome 11 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch OMIM:300602 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 proteasome-associated autoinflammatory syndrome 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030925 oocyte maturation defect 10 skos:exactMatch OMIM:619176 oocyte maturation defect 10 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030927 myofibrillar myopathy 11 skos:exactMatch OMIM:619178 myofibrillar myopathy 11 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1387,39 +1341,41 @@ MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:exactMatch MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 LEXMATCH -MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset LEXMATCH +MONDO:0030957 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030961 Olmsted syndrome 2 skos:exactMatch OMIM:619208 olmsted syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030963 Li-Campeau syndrome skos:exactMatch OMIM:619189 li-campeau syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 LEXMATCH +MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 skos:exactMatch OMIM:619927 intellectual developmental disorder, autosomal dominant 67 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030966 neurofacioskeletal syndrome with or without renal agenesis skos:exactMatch OMIM:619194 neurofacioskeletal syndrome with or without renal agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy skos:exactMatch OMIM:619196 deafness, congenital, and adult-onset progressive leukoencephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 LEXMATCH -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 LEXMATCH -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections LEXMATCH +MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:exactMatch OMIM:619931 intellectual developmental disorder, autosomal recessive 76 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 skos:exactMatch OMIM:619934 intellectual developmental disorder, autosomal dominant 68 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030970 immunodeficiency 106, susceptibility to viral infections skos:exactMatch OMIM:619935 immunodeficiency 106, susceptibility to viral infections semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:exactMatch OMIM:619220 immunodeficiency 78 with autoimmunity and developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 LEXMATCH +MONDO:0030972 spermatogenic failure 74 skos:exactMatch OMIM:619937 spermatogenic failure 74 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030973 immunodeficiency 77 skos:exactMatch OMIM:619223 immunodeficiency 77 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:exactMatch OMIM:619224 mitochondrial complex 2 deficiency, nuclear iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 LEXMATCH +MONDO:0030975 premature ovarian failure 20 skos:exactMatch OMIM:619938 premature ovarian failure 20 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030976 oculomotor-abducens synkinesis skos:exactMatch OMIM:619215 oculomotor-abducens synkinesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030977 neuropathy, hereditary motor, with myopathic features skos:exactMatch OMIM:619216 neuropathy, hereditary motor, with myopathic features semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030978 endove syndrome, limb-only type skos:exactMatch OMIM:619217 endove syndrome, limb-only iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030979 endove syndrome, limb-brain type skos:exactMatch OMIM:619218 endove syndrome, limb-brain iia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030982 sulfide quinone oxidoreductase deficiency skos:exactMatch OMIM:619221 sulfide:quinone oxidoreductase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 LEXMATCH +MONDO:0030983 Waardenburg syndrome, IIa 2F skos:exactMatch OMIM:619947 waardenburg syndrome, iia 2f semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030984 spermatogenic failure 75 skos:exactMatch OMIM:619949 spermatogenic failure 75 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030986 blistering, acantholytic, of oral and laryngeal mucosa skos:exactMatch OMIM:619226 blistering, acantholytic, of oral and laryngeal mucosa semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects skos:exactMatch OMIM:619227 vertebral, cardiac, tracheoesophageal, renal, and limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030988 developmental delay with dysmorphic facies and dental anomalies skos:exactMatch OMIM:619228 developmental delay with dysmorphic facies and dental anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030990 Kohlschutter-Tonz syndrome-like skos:exactMatch OMIM:619229 kohlschutter-tonz syndrome-like semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030991 bile acid conjugation defect 1 skos:exactMatch OMIM:619232 bile acid conjugation defect 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030992 short stature, oligodontia, dysmorphic facies, and motor delay skos:exactMatch OMIM:619234 short stature, oligodontia, dysmorphic facies, and motor delay semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 skos:exactMatch OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 neurodevelopmental disorder with or without autism or seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 global developmental delay with speech and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030996 bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 bleeding disorder, platelet-type, 24 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:exactMatch OMIM:619272 mitochondrial complex 1 deficiency, nuclear iia 37 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 skos:exactMatch OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia skos:exactMatch OMIM:619248 vitreoretinopathy with phalangeal epiphyseal dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031003 hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 hypercholanemia, familial, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031006 neurodegeneration with ataxia and late-onset optic atrophy skos:exactMatch OMIM:619259 neurodegeneration with ataxia and late-onset optic atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1427,30 +1383,27 @@ MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch OMIM:619263 nephrotic MONDO:0031009 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 glanzmann thrombasthenia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes skos:exactMatch OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive LEXMATCH -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 LEXMATCH -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism LEXMATCH -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection LEXMATCH -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 LEXMATCH -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 LEXMATCH -MONDO:0031043 lymphatic malformation 12 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 LEXMATCH -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 LEXMATCH -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 LEXMATCH -MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 LEXMATCH -MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 LEXMATCH -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus LEXMATCH -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 LEXMATCH -MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic LEXMATCH -MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive LEXMATCH -MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 LEXMATCH -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii LEXMATCH -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii LEXMATCH -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii LEXMATCH -MONDO:0031071 diamond-blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 LEXMATCH -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k LEXMATCH +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch OMIM:619966 spastic paraplegia 87, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031021 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 developmental and epileptic encephalopathy 104 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031045 arthrogryposis, distal, IIa 11 skos:exactMatch OMIM:620019 arthrogryposis, distal, iia 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031047 stickler syndrome, IIa 6 skos:exactMatch OMIM:620022 stickler syndrome, iia 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031052 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 developmental and epileptic encephalopathy 106 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:exactMatch OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031055 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 developmental and epileptic encephalopathy 107 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch OMIM:620040 dyskeratosis congenita, digenic semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031060 microcephaly 29, primary, autosomal recessive skos:exactMatch OMIM:620047 microcephaly 29, primary, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031061 nephrotic syndrome, IIa 26 skos:exactMatch OMIM:620049 nephrotic syndrome, iia 26 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch OMIM:620056 polycystic kidney disease 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II skos:exactMatch OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031071 Diamond-Blackfan anemia 21 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031077 spermatogenic failure 76 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031083 spermatogenic failure 77 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch OMIM:620104 amelogenesis imperfecta, iia 1k semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031446 hypercholanemia, familial 1 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0032569 isolated growth hormone deficiency, type 5 skos:exactMatch OMIM:618160 pituitary hormone deficiency, combined or isolated, 7 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1491,7 +1444,6 @@ MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blo MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:exactMatch OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033571 obsolete skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch OMIM:603513 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch OMIM:619033 vissers-bodmer syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033621 spinal muscular atrophy, infantile, James type skos:exactMatch OMIM:619042 spinal muscular atrophy, infantile, james iia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1521,6 +1473,8 @@ MONDO:0033667 Delpire-McNeill syndrome skos:exactMatch OMIM:619083 delpire-mcnei MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0034022 Bethlem myopathy 2 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch OMIM:618414 congenital myopathy 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch OMIM:619318 oculogastrointestinal neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch OMIM:619338 cataracts, spastic paraparesis, and speech delay semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G skos:exactMatch OMIM:617882 charcot-marie-tooth disease, dominant intermediate g semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0040502 glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 glucocorticoid deficiency 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1571,6 +1525,7 @@ MONDO:0044323 Rahman syndrome skos:exactMatch OMIM:617537 rahman syndrome semapv MONDO:0044325 Fanconi anemia, complementation group W skos:exactMatch OMIM:617784 fanconi anemia, complementation group w semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 polycystic liver disease 4 with or without kidney cysts semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 3-methylglutaconic aciduria, iia 8 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1642,22 +1597,24 @@ MONDO:0100092 myoclonus, familial, 2 skos:exactMatch OMIM:618364 myoclonus, fami MONDO:0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome skos:exactMatch OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100119 Knobloch syndrome 2 skos:exactMatch OMIM:618458 knobloch syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to LEXMATCH +MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 LEXMATCH +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100218 arthrogryposis multiplex congenita 5 skos:exactMatch OMIM:618947 arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100221 IFAP syndrome 2 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100226 parasomnia, sleepwalking type skos:exactMatch OMIM:613938 parasomnia, sleepwalking iia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100255 adenosine kinase deficiency skos:exactMatch OMIM:611094 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100285 extrahepatic biliary atresia skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 2 LEXMATCH +MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:exactMatch OMIM:619941 carey-fineman-ziter syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0100295 Alzheimer disease, susceptibility to, mitochondrial skos:exactMatch OMIM:502500 alzheimer disease, susceptibility to, mitochondrial semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:exactMatch OMIM:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0100300 hereditary capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100457 achalasia, familial esophageal skos:exactMatch OMIM:200400 achalasia, familial esophageal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:exactMatch OMIM:137215 diffuse gastric and lobular breast cancer syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700077 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1669,6 +1626,55 @@ MONDO:0800129 autoinflammatory disease, X-linked skos:exactMatch OMIM:301081 aut MONDO:0800130 autoinflammatory syndrome with immunodeficiency skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:exactMatch OMIM:619752 hyper-ige recurrent infection syndrome 4a, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency skos:exactMatch OMIM:619858 autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities LEXMATCH -MONDO:0851095 KINSSHIP syndrome skos:exactMatch OMIM:619297 kinsship syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome LEXMATCH +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 LEXMATCH +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch OMIM:180295 rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch OMIM:301095 intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch OMIM:619322 marbach-rustad progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch OMIM:619339 bartsocas-papas syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch OMIM:619851 leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch OMIM:620102 retinitis pigmentosa 95 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch OMIM:620106 spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch OMIM:620115 developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch OMIM:620149 developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch OMIM:620153 mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch OMIM:620157 intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch OMIM:620158 spinocerebellar ataxia 50 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch OMIM:620167 combined oxidative phosphorylation deficiency 57 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859338 spermatogenic failure 78 skos:exactMatch OMIM:620170 spermatogenic failure 78 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch OMIM:620173 tooth agenesis, selective, 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch OMIM:620174 spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859341 hypotrichosis 15 skos:exactMatch OMIM:620177 hypotrichosis 15 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch OMIM:620183 microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859352 spermatogenic failure 79 skos:exactMatch OMIM:620196 spermatogenic failure 79 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch OMIM:620198 thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch OMIM:620200 congenital disorder of glycosylation, iia iiy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch OMIM:620201 congenital disorder of glycosylation, iia iiz semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch OMIM:620203 cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859364 spermatogenic failure 80 skos:exactMatch OMIM:620222 spermatogenic failure 80 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch OMIM:620228 retinitis pigmentosa 96 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch OMIM:620237 intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch OMIM:620241 hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch OMIM:620243 leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859379 lymphatic malformation 13 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000013 portal hypertension, noncirrhotic, 1 skos:exactMatch OMIM:617068 portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 05e5e3e5..1543eeb8 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,10 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000193 cortisone reductase deficiency skos:exactMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001309 oculomotor nerve paralysis skos:exactMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma LEXMATCH MONDO:0002561 lysosomal storage disease skos:exactMatch Orphanet:68366 Lysosomal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome LEXMATCH MONDO:0003832 complement deficiency skos:exactMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004745 priapism skos:exactMatch Orphanet:140949 Low-flow priapism semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004952 Hodgkins lymphoma skos:exactMatch Orphanet:98293 Hodgkin lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -14,16 +11,10 @@ MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch Orphanet:443095 Hype MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008225 normokalemic periodic paralysis skos:exactMatch Orphanet:680 Normokalemic periodic paralysis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0008672 Watson syndrome skos:exactMatch Orphanet:3444 Watson syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 LEXMATCH MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch Orphanet:85328 X-linked intellectual disability, Turner type semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome LEXMATCH MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011119 iridogoniodysgenesis skos:exactMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch Orphanet:599373 STXBP1-related encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome LEXMATCH MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015074 thyroid tumor skos:exactMatch Orphanet:100087 Thyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -31,7 +22,7 @@ MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch MONDO:0015084 FRAXF syndrome skos:exactMatch Orphanet:100974 FRAXF syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015110 genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015111 gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -62,8 +53,8 @@ MONDO:0015208 syndromic esophageal malformation skos:exactMatch Orphanet:108961 MONDO:0015209 non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015210 syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015214 syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015215 non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015216 syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015219 non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015221 non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015222 syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -86,7 +77,7 @@ MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos: MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015333 progeroid syndrome skos:exactMatch Orphanet:139033 Progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015334 branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015335 orofacial clefting syndrome skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015335 Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015338 syndromic craniosynostosis skos:exactMatch Orphanet:139393 Syndromic craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015341 congenital panfollicular nevus skos:exactMatch Orphanet:139414 Congenital panfollicular nevus semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -662,7 +653,6 @@ MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:exact MONDO:0017998 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018003 limbic encephalitis with DPP6 antibodies skos:exactMatch Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:exactMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018008 idiopathic giant cell myocarditis skos:exactMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:exactMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -964,7 +954,7 @@ MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphane MONDO:0020018 cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020019 digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020021 diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020022 central nervous system malformation skos:exactMatch Orphanet:98044 Central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020023 respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1004,7 +994,6 @@ MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet: MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020064 pulmonary valve agenesis skos:exactMatch Orphanet:982 Pulmonary valve agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020065 combined dystonia skos:exactMatch Orphanet:98203 Combined dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020068 postinfectious encephalitis skos:exactMatch Orphanet:98253 OBSOLETE: Postinfectious encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020069 chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020070 neonatal epilepsy syndrome skos:exactMatch Orphanet:98257 Neonatal epilepsy syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020071 infantile epilepsy syndrome skos:exactMatch Orphanet:98258 Infantile epilepsy syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1088,7 +1077,6 @@ MONDO:0020355 coloboma of eye lens skos:exactMatch Orphanet:98943 Coloboma of ey MONDO:0020462 tarsal kink syndrome skos:exactMatch Orphanet:99170 Tarsal kink syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020475 dermotrichic syndrome skos:exactMatch Orphanet:99688 Dermotrichic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020499 Nipah virus disease skos:exactMatch Orphanet:99825 Nipah virus disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis LEXMATCH MONDO:0020659 upper tract urothelial carcinoma skos:exactMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:exactMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch Orphanet:592574 Menke-Hennekam syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1100,7 +1088,6 @@ MONDO:0021029 genetic sebaceous gland anomaly skos:exactMatch Orphanet:183460 Ge MONDO:0021034 genetic alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021106 laminopathy skos:exactMatch Orphanet:98301 Laminopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy LEXMATCH MONDO:0021141 acquired skos:exactMatch Orphanet:409941 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021181 inherited blood coagulation disorder skos:exactMatch Orphanet:183654 Rare genetic coagulation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1115,7 +1102,6 @@ MONDO:0022409 nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 MONDO:0022410 retinal ciliopathy skos:exactMatch Orphanet:156165 Retinal ciliopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022800 type 2 collagenopathy skos:exactMatch Orphanet:93421 Type 2 collagen-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0022825 congenital cystic eye skos:exactMatch Orphanet:519384 Congenital cystic eye semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia LEXMATCH MONDO:0023188 Freiberg disease skos:exactMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023201 Fryns Smeets Thiry syndrome skos:exactMatch Orphanet:2058 Fryns-Smeets-Thiry syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0023865 corneal infection skos:exactMatch Orphanet:519278 Infective keratitis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1177,8 +1163,8 @@ MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMa MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome LEXMATCH MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome LEXMATCH +MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome LEXMATCH MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome LEXMATCH MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 LEXMATCH @@ -1328,7 +1314,7 @@ MONDO:0035793 obsolete non-syndromic anorectal malformation with h-type fistula MONDO:0035821 isolated female hypospadias skos:exactMatch Orphanet:603515 Isolated female hypospadias semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch Orphanet:603694 KLHL7-related cold-induced sweating-like syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035826 symptomatic form of x-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 Prediction of ivermectin toxicity semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1336,8 +1322,6 @@ MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574 MONDO:0035882 chronic intervillositis of unknown etiology skos:exactMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 Prediction of dolutegravir toxicity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:exactMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1370,11 +1354,8 @@ MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:exactMatch MONDO:0044717 4q25 proximal deletion syndrome skos:exactMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044807 inherited dystonia skos:exactMatch Orphanet:391799 Rare genetic dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:exactMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis LEXMATCH MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100309 hereditary ataxia skos:exactMatch Orphanet:183518 Rare hereditary ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100344 Bartter disease type 1 skos:exactMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 LEXMATCH MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800084 primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800085 dysostosis with predominant craniofacial involvement skos:exactMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1386,61 +1367,51 @@ MONDO:0800092 genetic inflammatory or rheumatoid-like osteoarthropathy skos:exac MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800095 syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations LEXMATCH -MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia LEXMATCH -MONDO:0850010 congenital optic disc excavation skos:exactMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital optic disc excavation LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction LEXMATCH -MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:exactMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome LEXMATCH -MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome LEXMATCH -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disorder with increased il18 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency LEXMATCH -MONDO:0850070 CADINS disease skos:exactMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disorder LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome LEXMATCH -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis LEXMATCH -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:exactMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:exactMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia LEXMATCH -MONDO:0850100 body integrity dysphoria skos:exactMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome LEXMATCH +MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850010 congenital optic disc excavation skos:exactMatch Orphanet:519333 Congenital optic disc excavation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Complete hemimelia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850070 CADINS disease skos:exactMatch Orphanet:619972 CADINS disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850084 non-syndromic pansynostosis skos:exactMatch Orphanet:620212 Non-syndromic pansynostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postinfectious cerebellitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0851095 KINSSHIP syndrome skos:exactMatch Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome LEXMATCH +MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome LEXMATCH MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv index b6146d94..3f5472fc 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv @@ -1,27 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:narrowMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym b acute lymphoblastic leukemia LEXMATCH -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:narrowMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym b acute lymphoblastic leukemia LEXMATCH -MONDO:0002470 photosensitive trichothiodystrophy skos:narrowMatch DOID:0111866 trichothiodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label trichothiodystrophy LEXMATCH -MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:narrowMatch DOID:0081028 glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label glycogen-rich carcinoma LEXMATCH -MONDO:0003690 adult anaplastic ependymoma skos:narrowMatch DOID:5889 anaplastic ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label anaplastic ependymoma LEXMATCH MONDO:0004249 pediatric supratentorial ependymoma skos:narrowMatch DOID:0080890 supratentorial ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label supratentorial ependymoma LEXMATCH -MONDO:0005247 bacterial urinary tract infection skos:narrowMatch DOID:0080784 urinary tract infection semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label urinary tract infection LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:narrowMatch DOID:0080954 arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label arthrogryposis multiplex congenita LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:narrowMatch DOID:3125 multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym multiple endocrine adenomatosis LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:narrowMatch DOID:0081127 mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label mandibuloacral dysplasia LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:narrowMatch DOID:0111862 congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label congenital bilateral absence of vas deferens LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:narrowMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:narrowMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label aarskog syndrome LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:narrowMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym aarskog-scott syndrome LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:narrowMatch DOID:0111824 Aarskog syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym faciodigitogenital syndrome LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym dhmn5 LEXMATCH MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym distal hmn v LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH -MONDO:0015589 paraneoplastic limbic encephalitis skos:narrowMatch DOID:0080741 limbic encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label limbic encephalitis LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:narrowMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym b acute lymphoblastic leukemia LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:narrowMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label b-cell acute lymphoblastic leukemia LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:narrowMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym b-cell acute lymphocytic leukemia LEXMATCH +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym dhmn5 LEXMATCH +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH MONDO:0020793 oculopharyngodistal myopathy 1 skos:narrowMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label oculopharyngodistal myopathy LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:narrowMatch DOID:0080597 Kleefstra syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label kleefstra syndrome LEXMATCH -MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 skos:narrowMatch DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 7c449ad1..4f31ef57 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,13 +1,9 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000023 infantile liver failure DOID:0080716 MONDO:equivalentTo infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome -MONDO:0000638 benign glioma DOID:0080829 MONDO:equivalentTo low grade glioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign glioma -MONDO:0001509 endocrine exophthalmos DOID:0081120 MONDO:equivalentTo Graves ophthalmopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid eye disorder -MONDO:0002900 cerebral neuroblastoma DOID:0080905 MONDO:equivalentTo central nervous system neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system neuroblastoma -MONDO:0003308 pleural mesothelioma DOID:5157 MONDO:equivalentTo benign pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of pleura +MONDO:0002514 hepatobiliary neoplasm DOID:3117 MONDO:equivalentTo hepatobiliary benign neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatobiliary tumors MONDO:0005161 human papilloma virus infection DOID:11166 MONDO:equivalentTo Human papillomavirus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label human papillomavirus infectious disorder MONDO:0005224 acute myeloblastic leukemia without maturation DOID:0081086 MONDO:equivalentTo acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia without maturation -MONDO:0005405 childhood onset asthma DOID:0080815 MONDO:equivalentTo childhood-onset asthma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood asthma MONDO:0006033 diffuse intrinsic pontine glioma DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma MONDO:0006515 acute pancreatitis DOID:0080998 MONDO:equivalentTo acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder @@ -15,97 +11,62 @@ MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive blad MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 5 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 MONDO:0007160 Stickler syndrome type 1 DOID:0080676 MONDO:equivalentTo Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone dysplasia-medullary fibrosarcoma syndrome -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hardcastle syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome +MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome +MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome DOID:0080723 MONDO:equivalentTo Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 MONDO:0007538 amelogenesis imperfecta, type 3A DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 -MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny -MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 +MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny +MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny MONDO:0007648 hereditary diffuse gastric adenocarcinoma DOID:0080764 MONDO:equivalentTo hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer -MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111369 MONDO:equivalentTo hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperalphalipoproteinemia type 1 MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency -MONDO:0007878 congenital laryngomalacia DOID:0080833 MONDO:equivalentTo laryngomalacia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital laryngomalacia MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 7 -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dutch-kentucky syndrome -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht syndrome -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-beals syndrome -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trismus-pseudocamptodactyly syndrome -MONDO:0008016 trismus-pseudocamptodactyly syndrome DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trismus-pseudocamptodactyly syndrome +MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i MONDO:0008048 autosomal dominant centronuclear myopathy DOID:0111223 MONDO:equivalentTo centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 -MONDO:0008374 retinal cone dystrophy type 1 DOID:0081024 MONDO:equivalentTo retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 1 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant DOID:0112285 MONDO:equivalentTo autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spondyloepiphyseal dysplasia tarda -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 2a MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 2a -MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 3 -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 3 -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anophthalmia/microphthalmia-esophageal atresia syndrome +MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency MONDO:0008926 COFS syndrome DOID:0080910 MONDO:equivalentTo cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome -MONDO:0009009 hypoplasminogenemia DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia -MONDO:0009009 hypoplasminogenemia DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive DOID:0080802 MONDO:equivalentTo autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia DOID:0111622 MONDO:equivalentTo ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, debre type -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcl2, classic type -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal syndrome -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ghosal hematodiaphyseal syndrome -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ghosal hematodiaphyseal dysplasia -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphyseal dysplasia-anemia syndrome -MONDO:0009274 ghosal hematodiaphyseal dysplasia DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria DOID:0112252 MONDO:equivalentTo glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutathione synthetase deficiency without type 5-oxoprolinuria MONDO:0009305 granulocytopenia with immunoglobulin abnormality DOID:0111974 MONDO:equivalentTo immunodeficiency 59 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 59 and hypoglycemia -MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency +MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency with skin granulomas -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome DOID:0112254 MONDO:equivalentTo hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatic veno-occlusive disorder-immunodeficiency syndrome -MONDO:0009354 methylcobalamin deficiency type cblE DOID:0112255 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblE type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functional methionine synthase deficiency type cble -MONDO:0009372 encephalopathy due to hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency -MONDO:0009372 encephalopathy due to hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy DOID:0112263 MONDO:equivalentTo hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0009486 autosomal recessive Kenny-Caffey syndrome DOID:0080722 MONDO:equivalentTo Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome +MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome -MONDO:0009732 congenital nephrotic syndrome, Finnish type DOID:0080390 MONDO:equivalentTo nephrotic syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finnish congenital nephrosis MONDO:0009779 autosomal recessive omodysplasia DOID:0080844 MONDO:equivalentTo omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency @@ -120,424 +81,248 @@ MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MON MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive DOID:0112293 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome DOID:0112196 MONDO:equivalentTo spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -MONDO:0010110 tetraamelia-multiple malformations syndrome DOID:0112191 MONDO:equivalentTo tetraamelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tetraamelia-multiple malformations syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 1 -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constitutional mismatch repair deficiency syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btp1 syndrome -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym al awadi-raas-rothschild syndrome -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe limb deficit -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of ulna and fibula -MONDO:0010164 phocomelia, Schinzel type DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia/hypoplasia of limbs and pelvis MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 DOID:0112172 MONDO:equivalentTo hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x MONDO:0010225 Dent disease type 1 DOID:0111798 MONDO:equivalentTo X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked lissencephaly type 1 -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 1 due to doublecortin gene mutation -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ats-mr -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amme complex -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome DOID:0111860 MONDO:equivalentTo AMME complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amme syndrome -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia +MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome +MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia +MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia +MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome DOID:0112149 MONDO:equivalentTo terminal osseous dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal osseous dysplasia-pigmentary defects syndrome MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hbh disorder -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired hemoglobin h disorder -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-thalassemia-myelodysplastic syndrome -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome DOID:0112123 MONDO:equivalentTo deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome -MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked epilepsy-learning disabilities-behavior disorders syndrome +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss DOID:0111741 MONDO:equivalentTo X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked dominant chondrodysplasia, chassaing-lacombe type -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome DOID:0111811 MONDO:equivalentTo syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010490 SSR4-congenital disorder of glycosylation DOID:0080574 MONDO:equivalentTo congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y MONDO:0010506 intellectual disability, X-linked 61 DOID:0112042 MONDO:equivalentTo Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 +MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency +MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency MONDO:0010529 X-linked spinocerebellar ataxia type 3 DOID:0111831 MONDO:equivalentTo X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked distal arthrogryposis multiplex congenita -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile-onset x-linked spinal muscular atrophy -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spinal muscular atrophy type 2 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinal muscular atrophy type 2 -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy with arthrogryposis MONDO:0010534 X-linked spinocerebellar ataxia type 4 DOID:0111832 MONDO:equivalentTo X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 MONDO:0010547 X-linked progressive cerebellar ataxia DOID:0111829 MONDO:equivalentTo X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland DOID:0111388 MONDO:equivalentTo X-linked hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hypoparathyroidism +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX DOID:0111814 MONDO:equivalentTo methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX DOID:0111814 MONDO:equivalentTo methylmalonic acidemia and homocysteinemia cblX type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblx -MONDO:0010671 microphthalmia, syndromic 1 DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz dysplasia -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mls syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111875 MONDO:equivalentTo MLS syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear skin defects with multiple congenital anomalies -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 -MONDO:0010672 linear skin defects with multiple congenital anomalies DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 MONDO:0010732 spastic paraparesis-deafness syndrome DOID:0081100 MONDO:equivalentTo spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome -MONDO:0010850 Tessier number 4 facial cleft DOID:0111706 MONDO:equivalentTo oblique facial clefting 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tessier number type 4 facial cleft -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 8 -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mmep syndrome -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 8 -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viljoen-smart syndrome -MONDO:0011045 MMEP syndrome DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood apraxia of speech -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym childhood apraxia of speech -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental verbal dyspraxia -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia -MONDO:0011184 childhood apraxia of speech DOID:0111275 MONDO:equivalentTo speech-language disorder-1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 -MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome +MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome MONDO:0011381 dominant beta-thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body beta-thalassemia MONDO:0011493 Stickler syndrome type 2 DOID:0080675 MONDO:equivalentTo Stickler syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 MONDO:0011577 myopathy, proximal, and ophthalmoplegia DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myopathy and ophthalmoplegia -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency -MONDO:0011830 lissencephaly due to LIS1 mutation DOID:0112237 MONDO:equivalentTo lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pafah1b1-related lissencephaly +MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency +MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome DOID:0112305 MONDO:equivalentTo spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0011904 seizures, benign familial infantile, 3 DOID:0081116 MONDO:equivalentTo benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal-infantile seizures -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with brain and digit anomalies -MONDO:0011988 neutrophil immunodeficiency syndrome DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neutrophil immunodeficiency syndrome -MONDO:0011988 neutrophil immunodeficiency syndrome DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil immunodeficiency syndrome +MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome +MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 +MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome DOID:0080695 MONDO:equivalentTo Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 -MONDO:0012342 7q11.23 microduplication syndrome DOID:0080926 MONDO:equivalentTo 7q11.23 duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 7q11.23 microduplication syndrome MONDO:0012351 zygodactyly type 1 DOID:0111820 MONDO:equivalentTo zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0012410 Finnish upper limb-onset distal myopathy DOID:0111189 MONDO:equivalentTo distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 MONDO:0012413 syndromic microphthalmia type 5 DOID:0111806 MONDO:equivalentTo syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 -MONDO:0012475 cone dystrophy with supernormal rod response DOID:0081022 MONDO:equivalentTo retinal cone dystrophy 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal cone dystrophy type 3b MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile agranulocytosis MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency -MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome -MONDO:0012703 lissencephaly due to TUBA1A mutation DOID:0112232 MONDO:equivalentTo lissencephaly 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type +MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds -MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ane syndrome -MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ane syndrome -MONDO:0012794 ANE syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alopecia-progressive neurological defect-endocrinopathy syndrome +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia MONDO:0012883 acute promyelocytic leukemia DOID:0081081 MONDO:equivalentTo acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 MONDO:0013058 cystic leukoencephalopathy without megalencephaly DOID:0081007 MONDO:equivalentTo RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins DOID:0080778 MONDO:equivalentTo transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital hrg deficiency -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency MONDO:0013209 non-alcoholic fatty liver disease DOID:0080546 MONDO:equivalentTo non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver MONDO:0013229 hot water reflex epilepsy DOID:0081104 MONDO:equivalentTo hot water epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hot water epilepsy MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly DOID:0081046 MONDO:equivalentTo frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 2 MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome DOID:0081047 MONDO:equivalentTo frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 3 -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type DOID:0112224 MONDO:equivalentTo chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome DOID:0111946 MONDO:equivalentTo immunodeficiency 31C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31c -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocyte-b-natural killer-dendritic cell deficiency syndrome -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monocytopenia with susceptibility to infections -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monocytopenia and mycobacterial infection syndrome -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monomac -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dendritic cell, monocyte, b and nk lymphoid deficiency -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections -MONDO:0013607 monocytopenia with susceptibility to infections DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 21 -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder +MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder +MONDO:0013751 cutis laxa, autosomal dominant 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombomodulin-related coagulopathy -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related bleeding disorder -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombomodulin-related bleeding disorder -MONDO:0013775 thrombomodulin-related bleeding disorder DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thbd-related coagulopathy MONDO:0013885 Malan overgrowth syndrome DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 MONDO:0013890 congenital myopathy with internal nuclei and atypical cores DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 29, mycobacteriosis -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12b deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 29 -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interleukin type 12b deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12b deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency DOID:0111950 MONDO:equivalentTo immunodeficiency 29 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12b deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency +MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial stat1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 31a -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial signal transducer and activator of transcription type 1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial stat1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency DOID:0111945 MONDO:equivalentTo immunodeficiency 31A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial signal transducer and activator of transcription type 1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement DOID:0112230 MONDO:equivalentTo lissencephaly 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 5 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to card11 deficiency MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps45 deficiency MONDO:0014119 intellectual disability-strabismus syndrome DOID:0081099 MONDO:equivalentTo neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome DOID:0112344 MONDO:equivalentTo hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome DOID:0112321 MONDO:equivalentTo alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alacrima, achalasia, and mental retardation syndrome -MONDO:0014226 idiopathic CD4 lymphocytopenia DOID:0111987 MONDO:equivalentTo immunodeficiency 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 13 MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency DOID:0111959 MONDO:equivalentTo immunodeficiency 15B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 15b -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd3-gamma deficiency -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 17 -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0111973 MONDO:equivalentTo immunodeficiency 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 17, cd3 gamma deficient -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 20 -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity DOID:0111941 MONDO:equivalentTo immunodeficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd16 deficiency -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse DOID:0111710 MONDO:equivalentTo focal or diffuse nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 +MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0060018 MONDO:equivalentTo CD3gamma deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cd3gamma deficiency +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lymphocyte-specific protein tyrosine kinase deficiency MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome DOID:0111802 MONDO:equivalentTo syndromic microphthalmia 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym colobomatous microphthalmia-rhizomelic dysplasia syndrome -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome DOID:0112339 MONDO:equivalentTo Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial ifngammar1 deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant msmd due to partial interferon gamma receptor type 1 deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111956 MONDO:equivalentTo immunodeficiency 27B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 27b +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency DOID:0112134 MONDO:equivalentTo severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency DOID:0111934 MONDO:equivalentTo immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 38 -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency DOID:0111934 MONDO:equivalentTo immunodeficiency 38 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete isg15 deficiency -MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome -MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebellar-facial-dental syndrome -MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebellofaciodental syndrome -MONDO:0014529 cerebellar-facial-dental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar-facial-dental syndrome -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital contractures of the limbs and face, hypotonia, and developmental delay +MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma DOID:0111708 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copa syndrome -MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation +MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation +MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection DOID:0111975 MONDO:equivalentTo immunodeficiency 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 44 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency DOID:0112129 MONDO:equivalentTo severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome DOID:0081008 MONDO:equivalentTo intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gnb5-related intellectual disability-cardiac arrhythmia syndrome -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome DOID:0081008 MONDO:equivalentTo intellectual developmental disorder with cardiac arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 DOID:0080762 MONDO:equivalentTo autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z MONDO:0015008 amelogenesis imperfecta, type 1J DOID:0080953 MONDO:equivalentTo amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, type ij -MONDO:0015146 classic lissencephaly DOID:0112237 MONDO:equivalentTo lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 1 -MONDO:0015148 lissencephaly type 3 DOID:0112232 MONDO:equivalentTo lissencephaly 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 -MONDO:0015364 hereditary sensory and autonomic neuropathy DOID:0081075 MONDO:equivalentTo Marsili syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital insensitivity to pain +MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism +MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015408 diffuse lymphatic malformation DOID:0081031 MONDO:equivalentTo generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly -MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome +MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type +MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to globozoospermia +MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym male infertility due to globozoospermia +MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to round-headed spermatozoa MONDO:0016642 meningioma DOID:0080842 MONDO:equivalentTo intracranial meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma MONDO:0016715 ependymoblastoma DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor -MONDO:0017014 interstitial lung disease specific to childhood DOID:0111822 MONDO:equivalentTo CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome +MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome -MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to type 10p11.21p12.31 microdeletion MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system MONDO:0017607 caudal regression sequence DOID:0080700 MONDO:equivalentTo caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency DOID:0112317 MONDO:equivalentTo Schindler disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency DOID:0112317 MONDO:equivalentTo Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency DOID:0112317 MONDO:equivalentTo Schindler disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder MONDO:0017858 acute erythroid leukemia DOID:0080916 MONDO:equivalentTo erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations DOID:0081095 MONDO:equivalentTo acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with mutated cebpa -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor type 2 deficiency -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete interferon gamma receptor type 2 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial interferon gamma receptor type 1 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial ifngammar1 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to partial interferon gamma receptor type 1 deficiency -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to partial ifngammar1 deficiency -MONDO:0017906 amyloidosis cutis dyschromia DOID:0080932 MONDO:equivalentTo primary localized cutaneous amyloidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0017909 inherited glutathione synthetase deficiency DOID:0080699 MONDO:equivalentTo glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency -MONDO:0018018 wild type ATTR amyloidosis DOID:0080937 MONDO:equivalentTo wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrwt amyloidosis -MONDO:0018018 wild type ATTR amyloidosis DOID:0080937 MONDO:equivalentTo wild-type amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senile systemic amyloidosis -MONDO:0018338 activated PI3K-delta syndrome DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation -MONDO:0018338 activated PI3K-delta syndrome DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym activated pi3k-delta syndrome MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) DOID:0081080 MONDO:equivalentTo acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) -MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gcgr-related hyperglucagonemia -MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder -MONDO:0018582 GCGR-related hyperglucagonemia DOID:0112306 MONDO:equivalentTo Mahvash Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor MONDO:0018589 AApoAIV amyloidosis DOID:0080927 MONDO:equivalentTo apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis -MONDO:0018590 ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta2-microglobulinic amyloidosis -MONDO:0018590 ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abeta2m amyloidosis MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability DOID:0112025 MONDO:equivalentTo female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0018865 striate palmoplantar keratoderma DOID:0081105 MONDO:equivalentTo keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata MONDO:0018871 acute myelomonocytic leukemia M4 DOID:0081082 MONDO:equivalentTo acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0018924 microphthalmia, Lenz type DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenz microphthalmia -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder +MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome +MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome MONDO:0018948 multiminicore myopathy DOID:0080991 MONDO:equivalentTo multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency DOID:0111905 MONDO:equivalentTo autosomal recessive thrombophilia due to protein S deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein s deficiency MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 DOID:0112320 MONDO:equivalentTo Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 3 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 DOID:0112320 MONDO:equivalentTo Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 3 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 DOID:0112320 MONDO:equivalentTo Schindler disease type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 3 MONDO:0019438 AL amyloidosis DOID:0080933 MONDO:equivalentTo immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis -MONDO:0019439 AA amyloidosis DOID:0080936 MONDO:equivalentTo serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary amyloidosis -MONDO:0019439 AA amyloidosis DOID:0080936 MONDO:equivalentTo serum amyloid A amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aa amyloidosis -MONDO:0019440 wild type ABeta2M amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dialysis-related amyloidosis -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ cd56+ hematodermic neoplasm/tumor -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agranular cd4+ natural killer cell leukemia -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic natural killer leukemia/lymphoma -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic nk-cell lymphoma -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cd4+/cd56+ hematodermic neoplasm -MONDO:0019472 extranodal nasal NK/T cell lymphoma DOID:0080797 MONDO:equivalentTo nasal type extranodal NK/T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal type extranodal nk/t-cell lymphoma -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i +MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 +MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete luteinizing hormone resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete lh resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to complete luteinizing hormone resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete lh receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to complete luteinizing hormone resistance -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance DOID:0112260 MONDO:equivalentTo Leydig cell hypoplasia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to complete lh receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leydig cell hypoplasia due to partial lh resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial lh receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial luteinizing hormone resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial luteinizing hormone resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to partial luteinizing hormone resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to partial lh receptor inactivation -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance DOID:0112261 MONDO:equivalentTo Leydig cell hypoplasia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex developement due to partial lh receptor inactivation MONDO:0019976 dementia pugilistica DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy DOID:0081119 MONDO:equivalentTo benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy MONDO:0020320 acute myeloblastic leukemia with maturation DOID:0081087 MONDO:equivalentTo acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with maturation @@ -545,17 +330,6 @@ MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 DOID:011 MONDO:0020716 familial thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b MONDO:0020791 corneal dystrophy, Meesmann, 1 DOID:0080670 MONDO:equivalentTo Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 1 -MONDO:0021005 faciodigitogenital syndrome DOID:0111824 MONDO:equivalentTo Aarskog syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome -MONDO:0021115 luminal B breast carcinoma DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym luminal b breast carcinoma -MONDO:0021115 luminal B breast carcinoma DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym luminal b breast carcinoma -MONDO:0021232 pineal body neoplasm DOID:0081248 MONDO:equivalentTo pineocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pinealoma -MONDO:0021441 benign neoplasm of exocrine pancreas DOID:0080781 MONDO:equivalentTo benign exocrine pancreas neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign exocrine pancreas neoplasm -MONDO:0021915 arakawa syndrome 2 DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym homocystinuria-megaloblastic anemia, cblg complementation type -MONDO:0021915 arakawa syndrome 2 DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylcobalamin deficiency, cblg type -MONDO:0022963 desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile astrocytoma -MONDO:0022963 desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile astrocytoma -MONDO:0022965 desmoplastic infantile ganglioglioma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desmoplastic infantile ganglioglioma -MONDO:0022965 desmoplastic infantile ganglioglioma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmoplastic infantile ganglioglioma MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 @@ -565,14 +339,11 @@ MONDO:0030054 developmental and epileptic encephalopathy, 86 DOID:0112220 MONDO: MONDO:0030059 developmental and epileptic encephalopathy, 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 MONDO:0030072 developmental and epileptic encephalopathy, 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 MONDO:0030861 osteogenesis imperfecta, type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 -MONDO:0030894 AMED syndrome, digenic DOID:0080952 MONDO:equivalentTo AMED syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amed syndrome MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 +MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 -MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis MONDO:0031043 lymphatic malformation 12 DOID:0081030 MONDO:equivalentTo central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly MONDO:0031421 Olmsted syndrome DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome MONDO:0032598 developmental and epileptic encephalopathy, 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 @@ -587,52 +358,30 @@ MONDO:0032768 developmental and epileptic encephalopathy, 76 DOID:0112212 MONDO: MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity DOID:0111997 MONDO:equivalentTo immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity MONDO:0032812 developmental and epileptic encephalopathy, 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 MONDO:0032813 developmental and epileptic encephalopathy, 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency MONDO:0032822 developmental and epileptic encephalopathy, 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections DOID:0111978 MONDO:equivalentTo immunodeficiency 65 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections MONDO:0032858 developmental and epileptic encephalopathy, 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement DOID:0112144 MONDO:equivalentTo retinitis pigmentosa 87 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement MONDO:0032880 developmental and epileptic encephalopathy, 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 MONDO:0032895 developmental and epileptic encephalopathy, 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 MONDO:0032904 corneal dystrophy, Meesmann, 2 DOID:0080671 MONDO:equivalentTo Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 MONDO:0032918 developmental and epileptic encephalopathy, 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 MONDO:0033551 immunodeficiency 72 with autoinflammation DOID:0112015 MONDO:equivalentTo immunodeficiency 72 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 72 with autoinflammation -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome DOID:0111952 MONDO:equivalentTo immunodeficiency 57 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune dysregulation-inflammatory bowel disorder-arthritis-recurrent infections-lymphopenia syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) DOID:0080645 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); etv6-runx1 -MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML DOID:0111947 MONDO:equivalentTo immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome DOID:0081175 MONDO:equivalentTo short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature, hearing loss, retinitis pigmentosa, and distinctive facies -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency DOID:0111983 MONDO:equivalentTo immunodeficiency 52 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lat deficiency MONDO:0044725 combined immunodeficiency due to GINS1 deficiency DOID:0111993 MONDO:equivalentTo immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive complex spg due to kennedy pathway dysfunction -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction -MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 5, multiple types -MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types +MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types -MONDO:0054697 immunodeficiency 11b with atopic dermatitis DOID:0111958 MONDO:equivalentTo immunodeficiency 11B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis +MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder -MONDO:0100112 acyl-CoA binding domain containing protein 5 deficiency DOID:0080946 MONDO:equivalentTo retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acbd5 deficiency -MONDO:0100189 apolipoprotein A-I deficiency DOID:0080958 MONDO:equivalentTo primary hypoalphalipoproteinemia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency -MONDO:0100189 apolipoprotein A-I deficiency DOID:0080957 MONDO:equivalentTo primary hypoalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hypoalphalipoproteinemia -MONDO:0100222 A20 haploinsufficiency DOID:0080944 MONDO:equivalentTo familial Behcet-like autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym a20 haploinsufficiency -MONDO:0100233 long COVID-19 DOID:0080848 MONDO:equivalentTo long COVID semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-acute sequelae of sars-cov-2 infection -MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma +MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques MONDO:0100296 Olmsted syndrome 1 DOID:0112013 MONDO:equivalentTo autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v +MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to nemo deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to nemo deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to ikbkg deficiency -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to ikbkg deficiency -MONDO:0800025 Teebi hypertelorism syndrome 1 DOID:0081073 MONDO:equivalentTo Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 DOID:0081072 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrofaciothoracic dysplasia +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index e7088dd6..8054b60a 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -1,459 +1,38 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000087 polymicrogyria DOID:0080918 MONDO:equivalentTo polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria -MONDO:0000136 keratosis follicularis spinulosa decalvans DOID:0080753 MONDO:equivalentTo keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans -MONDO:0000141 mosaic variegated aneuploidy syndrome DOID:0080688 MONDO:equivalentTo mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome -MONDO:0004649 anaerobic pneumonia DOID:873 MONDO:equivalentTo anaerobic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaerobic pneumonia -MONDO:0004947 B-cell acute lymphoblastic leukemia DOID:0080638 MONDO:equivalentTo B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell acute lymphoblastic leukemia -MONDO:0005013 dedifferentiated chondrosarcoma DOID:0081247 MONDO:equivalentTo dedifferentiated chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated chondrosarcoma -MONDO:0005223 acute myeloid leukemia with minimal differentiation DOID:0081085 MONDO:equivalentTo acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation -MONDO:0006279 lung sarcomatoid carcinoma DOID:0080777 MONDO:equivalentTo lung sarcomatoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung sarcomatoid carcinoma MONDO:0006372 pituicytoma DOID:0081280 MONDO:equivalentTo pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma -MONDO:0006411 sinonasal undifferentiated carcinoma DOID:0080799 MONDO:equivalentTo sinonasal undifferentiated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinonasal undifferentiated carcinoma -MONDO:0007030 autosomal dominant Aarskog syndrome DOID:0111825 MONDO:equivalentTo autosomal dominant Aarskog syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aarskog syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 DOID:0111895 MONDO:equivalentTo Diamond-Blackfan anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 -MONDO:0007138 anterior segment dysgenesis 1 DOID:0080606 MONDO:equivalentTo anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 1 -MONDO:0007171 atrial standstill 1 DOID:0080662 MONDO:equivalentTo atrial standstill 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 1 -MONDO:0007193 primary biliary cholangitis 1 DOID:0070358 MONDO:equivalentTo primary biliary cholangitis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 1 -MONDO:0007299 Sotos syndrome 1 DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 1 -MONDO:0007389 spondylocostal dysostosis 5 DOID:0112363 MONDO:equivalentTo spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocostal dysostosis type 5 -MONDO:0007552 pretibial dystrophic epidermolysis bullosa DOID:0080988 MONDO:equivalentTo pretibial dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pretibial dystrophic epidermolysis bullosa -MONDO:0007944 Treacher Collins syndrome 1 DOID:0080789 MONDO:equivalentTo Treacher Collins syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 1 -MONDO:0007990 multiple benign circumferential skin creases on limbs DOID:0112241 MONDO:equivalentTo multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID:0081321 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1a -MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy DOID:0112286 MONDO:equivalentTo spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with punctate corneal dystrophy -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant DOID:0080677 MONDO:equivalentTo otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otospondylomegaepiphyseal dysplasia, autosomal dominant -MONDO:0008512 syndactyly type 1 DOID:0111816 MONDO:equivalentTo syndactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 1 -MONDO:0008514 syndactyly type 3 DOID:0111817 MONDO:equivalentTo syndactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 3 -MONDO:0008515 syndactyly type 4 DOID:0111818 MONDO:equivalentTo syndactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 4 -MONDO:0008516 syndactyly type 5 DOID:0111819 MONDO:equivalentTo syndactyly type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 5 MONDO:0008519 multiple synostoses syndrome 1 DOID:0081317 MONDO:equivalentTo multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 1 -MONDO:0008559 thrombophilia due to thrombin defect DOID:0111907 MONDO:equivalentTo thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophilia due to thrombin defect -MONDO:0008560 thrombophilia due to activated protein C resistance DOID:0111902 MONDO:equivalentTo thrombophilia due to activated protein C resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophilia due to activated protein c resistance MONDO:0008676 white sponge nevus 1 DOID:0081287 MONDO:equivalentTo white sponge nevus 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 1 -MONDO:0008742 autosomal dominant severe congenital neutropenia DOID:0112130 MONDO:equivalentTo autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia MONDO:0008803 Antley-Bixler syndrome DOID:0081289 MONDO:equivalentTo Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome -MONDO:0008849 atrophoderma vermiculata DOID:0080756 MONDO:equivalentTo atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata -MONDO:0008856 immunodeficiency 27A DOID:0111955 MONDO:equivalentTo immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a -MONDO:0008886 Sabinas brittle hair syndrome DOID:0111874 MONDO:equivalentTo Sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sabinas brittle hair syndrome -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 DOID:0080911 MONDO:equivalentTo cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 -MONDO:0009194 immunodeficiency 32B DOID:0111985 MONDO:equivalentTo immunodeficiency 32B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 32b -MONDO:0009226 fibrochondrogenesis 1 DOID:0080672 MONDO:equivalentTo fibrochondrogenesis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 1 -MONDO:0009263 GAPO syndrome DOID:0112249 MONDO:equivalentTo GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome -MONDO:0009283 glutaric acidemia type 3 DOID:0112246 MONDO:equivalentTo glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaric acidemia type 3 MONDO:0009329 pulmonary venoocclusive disease 2 DOID:0081269 MONDO:equivalentTo pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 2 -MONDO:0009419 Woodhouse-Sakati syndrome DOID:0112264 MONDO:equivalentTo Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome -MONDO:0009448 iminoglycinuria DOID:0112265 MONDO:equivalentTo iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria -MONDO:0009470 Baraitser-Winter syndrome 1 DOID:0081112 MONDO:equivalentTo Baraitser-Winter syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 1 -MONDO:0009558 Treacher Collins syndrome 3 DOID:0080791 MONDO:equivalentTo Treacher Collins syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 3 -MONDO:0009720 Keipert syndrome DOID:0111842 MONDO:equivalentTo Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009764 ocular motor apraxia, Cogan type DOID:0080849 MONDO:equivalentTo ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type -MONDO:0009945 pyridoxine-dependent epilepsy DOID:0080768 MONDO:equivalentTo pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy -MONDO:0010008 sarcosinemia DOID:0112307 MONDO:equivalentTo sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia -MONDO:0010015 anterior segment dysgenesis 7 DOID:0080612 MONDO:equivalentTo anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment dysgenesis type 7 -MONDO:0010078 spondyloperipheral dysplasia DOID:0112195 MONDO:equivalentTo spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloperipheral dysplasia -MONDO:0010092 Filippi syndrome DOID:0112194 MONDO:equivalentTo Filippi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filippi syndrome -MONDO:0010132 familial thyroid dyshormonogenesis DOID:0112183 MONDO:equivalentTo familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroid dyshormonogenesis -MONDO:0010133 thyroid dyshormonogenesis 2A DOID:0112186 MONDO:equivalentTo thyroid dyshormonogenesis 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 2a -MONDO:0010135 thyroid dyshormonogenesis 3 DOID:0112187 MONDO:equivalentTo thyroid dyshormonogenesis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 3 -MONDO:0010136 thyroid dyshormonogenesis 4 DOID:0112188 MONDO:equivalentTo thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 4 -MONDO:0010137 thyroid dyshormonogenesis 5 DOID:0112184 MONDO:equivalentTo thyroid dyshormonogenesis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 5 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 DOID:0112178 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome type 1 -MONDO:0010201 Winchester syndrome DOID:0080696 MONDO:equivalentTo Winchester syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome -MONDO:0010208 wrinkly skin syndrome DOID:0112171 MONDO:equivalentTo wrinkly skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wrinkly skin syndrome -MONDO:0010217 de Sanctis-Cacchione syndrome DOID:0112158 MONDO:equivalentTo De Sanctis-Cacchione syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label de sanctis-cacchione syndrome -MONDO:0010221 CHIME syndrome DOID:0112152 MONDO:equivalentTo CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome DOID:0112151 MONDO:equivalentTo corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia DOID:0112150 MONDO:equivalentTo X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome DOID:0112148 MONDO:equivalentTo Uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uruguay faciocardiomusculoskeletal syndrome -MONDO:0010293 ectodermal dysplasia and immune deficiency DOID:0081077 MONDO:equivalentTo ectodermal dysplasia and immune deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immune deficiency -MONDO:0010294 X-linked severe congenital neutropenia DOID:0112128 MONDO:equivalentTo X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia -MONDO:0010296 immunodeficiency 61 DOID:0111999 MONDO:equivalentTo immunodeficiency 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 61 -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis DOID:0112121 MONDO:equivalentTo nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis -MONDO:0010367 SHOX-related short stature DOID:0112120 MONDO:equivalentTo SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature -MONDO:0010386 immunodeficiency 33 DOID:0112003 MONDO:equivalentTo immunodeficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 33 -MONDO:0010406 chromosome Xp11.22 duplication syndrome DOID:0112037 MONDO:equivalentTo chromosome Xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromosome xp11.22 duplication syndrome -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome DOID:0111931 MONDO:equivalentTo syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome -MONDO:0010441 CK syndrome DOID:0111898 MONDO:equivalentTo CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 DOID:0111877 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 2 -MONDO:0010482 X-linked parkinsonism-spasticity syndrome DOID:0112105 MONDO:equivalentTo X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked parkinsonism-spasticity syndrome -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis DOID:0111897 MONDO:equivalentTo Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 14 with mandibulofacial dysostosis -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 DOID:0111876 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 3 -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome DOID:0112056 MONDO:equivalentTo X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome -MONDO:0010498 MEND syndrome DOID:0111865 MONDO:equivalentTo MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome -MONDO:0010504 immunodeficiency 47 DOID:0112002 MONDO:equivalentTo immunodeficiency 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 47 -MONDO:0010515 Meester-Loeys syndrome DOID:0111861 MONDO:equivalentTo Meester-Loeys syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis DOID:0111859 MONDO:equivalentTo midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis -MONDO:0010523 X-linked reticulate pigmentary disorder DOID:0111834 MONDO:equivalentTo X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder -MONDO:0010542 dilated cardiomyopathy 3B DOID:0081164 MONDO:equivalentTo dilated cardiomyopathy 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy type 3b -MONDO:0010554 Abruzzo-Erickson syndrome DOID:0111826 MONDO:equivalentTo Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome -MONDO:0010621 CHILD syndrome DOID:0111822 MONDO:equivalentTo CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome -MONDO:0010669 syndactyly type 8 DOID:0111813 MONDO:equivalentTo syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 -MONDO:0010720 partial androgen insensitivity syndrome DOID:0080776 MONDO:equivalentTo partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome -MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies DOID:0112289 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda with characteristic facies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda with characteristic facies -MONDO:0011101 peroxisome biogenesis disorder 1B DOID:0081240 MONDO:equivalentTo peroxisome biogenesis disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b -MONDO:0011211 axial spondylometaphyseal dysplasia DOID:0112299 MONDO:equivalentTo axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability DOID:0112294 MONDO:equivalentTo spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability -MONDO:0011309 familial gestational hyperthyroidism DOID:0081102 MONDO:equivalentTo familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gestational hyperthyroidism MONDO:0011327 neuronal intranuclear inclusion disease DOID:0081294 MONDO:equivalentTo neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disorder -MONDO:0011603 GNE myopathy DOID:0080718 MONDO:equivalentTo GNE myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gne myopathy -MONDO:0011636 Diamond-Blackfan anemia 2 DOID:0111885 MONDO:equivalentTo Diamond-Blackfan anemia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 2 MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis DOID:0111894 MONDO:equivalentTo Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 15 with mandibulofacial dysostosis -MONDO:0011738 bilateral frontoparietal polymicrogyria DOID:0080922 MONDO:equivalentTo bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria -MONDO:0011773 anauxetic dysplasia DOID:0080942 MONDO:equivalentTo anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia -MONDO:0011792 thyroid dyshormonogenesis 6 DOID:0112189 MONDO:equivalentTo thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid dyshormonogenesis type 6 MONDO:0011814 Smith-McCort dysplasia 1 DOID:0081270 MONDO:equivalentTo Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 1 -MONDO:0011881 keratosis palmoplantaris striata 3 DOID:0081110 MONDO:equivalentTo keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmoplantaris striata type 3 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair DOID:0080691 MONDO:equivalentTo Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0011959 sweet syndrome DOID:0080746 MONDO:equivalentTo Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive DOID:0081088 MONDO:equivalentTo chronic myelogenous leukemia, BCR-ABL1 positive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelogenous leukemia, bcr-abl1 positive -MONDO:0012041 familial adenomatous polyposis 2 DOID:0080410 MONDO:equivalentTo familial adenomatous polyposis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis type 2 -MONDO:0012270 Tukel syndrome DOID:0081021 MONDO:equivalentTo Tukel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tukel syndrome MONDO:0012394 multiple synostoses syndrome 2 DOID:0081318 MONDO:equivalentTo multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 2 -MONDO:0012398 retinal cone dystrophy 3A DOID:0081025 MONDO:equivalentTo retinal cone dystrophy 3A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 3a -MONDO:0012426 immunodeficiency 25 DOID:0111942 MONDO:equivalentTo immunodeficiency 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 25 -MONDO:0012455 Kleefstra syndrome DOID:0080597 MONDO:equivalentTo Kleefstra syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome -MONDO:0012507 retinal cone dystrophy 4 DOID:0081023 MONDO:equivalentTo retinal cone dystrophy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal cone dystrophy type 4 -MONDO:0012529 Diamond-Blackfan anemia 3 DOID:0111887 MONDO:equivalentTo Diamond-blackfan anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 DOID:0080912 MONDO:equivalentTo cerebrooculofacioskeletal syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 2 -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 DOID:0080914 MONDO:equivalentTo cerebrooculofacioskeletal syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 4 -MONDO:0012682 immunodeficiency 35 DOID:0111989 MONDO:equivalentTo immunodeficiency 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 35 -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 DOID:0081079 MONDO:equivalentTo ectodermal dysplasia and immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 -MONDO:0012924 Diamond-Blackfan anemia 4 DOID:0111890 MONDO:equivalentTo Diamond-Blackfan anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 -MONDO:0012925 Diamond-Blackfan anemia 5 DOID:0111883 MONDO:equivalentTo Diamond-Blackfan anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 -MONDO:0012937 Diamond-Blackfan anemia 6 DOID:0111879 MONDO:equivalentTo Diamond-Blackfan anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 -MONDO:0012938 Diamond-Blackfan anemia 7 DOID:0111878 MONDO:equivalentTo Diamond-Blackfan anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 -MONDO:0012939 Diamond-Blackfan anemia 8 DOID:0111881 MONDO:equivalentTo Diamond-Blackfan anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria DOID:0080923 MONDO:equivalentTo bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria -MONDO:0013034 keratosis palmoplantaris striata 2 DOID:0081109 MONDO:equivalentTo keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmoplantaris striata type 2 MONDO:0013064 multiple synostoses syndrome 3 DOID:0081319 MONDO:equivalentTo multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 3 -MONDO:0013079 primary biliary cholangitis 2 DOID:0070359 MONDO:equivalentTo primary biliary cholangitis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 2 -MONDO:0013080 primary biliary cholangitis 3 DOID:0070360 MONDO:equivalentTo primary biliary cholangitis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 3 -MONDO:0013216 Diamond-Blackfan anemia 9 DOID:0111884 MONDO:equivalentTo Diamond-Blackfan anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 -MONDO:0013217 Diamond-Blackfan anemia 10 DOID:0111888 MONDO:equivalentTo Diamond-Blackfan anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 -MONDO:0013247 Fanconi renotubular syndrome 2 DOID:0080758 MONDO:equivalentTo Fanconi renotubular syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 2 -MONDO:0013323 cranioectodermal dysplasia 2 DOID:0080804 MONDO:equivalentTo cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 2 -MONDO:0013385 Treacher Collins syndrome 2 DOID:0080790 MONDO:equivalentTo Treacher Collins syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 2 -MONDO:0013427 immunodeficiency 31B DOID:0111944 MONDO:equivalentTo immunodeficiency 31B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 31b -MONDO:0013500 immunodeficiency 51 DOID:0111996 MONDO:equivalentTo immunodeficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 51 -MONDO:0013527 lissencephaly 4 DOID:0112235 MONDO:equivalentTo lissencephaly 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 4 -MONDO:0013573 cranioectodermal dysplasia 3 DOID:0080805 MONDO:equivalentTo cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 3 -MONDO:0013605 brittle cornea syndrome 2 DOID:0080729 MONDO:equivalentTo brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome type 2 -MONDO:0013624 Rafiq syndrome DOID:0081097 MONDO:equivalentTo Rafiq syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rafiq syndrome -MONDO:0013636 primary biliary cholangitis 4 DOID:0070361 MONDO:equivalentTo primary biliary cholangitis 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 4 -MONDO:0013637 primary biliary cholangitis 5 DOID:0070362 MONDO:equivalentTo primary biliary cholangitis 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis type 5 -MONDO:0013719 cranioectodermal dysplasia 4 DOID:0080806 MONDO:equivalentTo cranioectodermal dysplasia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 4 -MONDO:0013795 fibrochondrogenesis 2 DOID:0080673 MONDO:equivalentTo fibrochondrogenesis 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis type 2 -MONDO:0013812 Baraitser-winter syndrome 2 DOID:0081113 MONDO:equivalentTo Baraitser-Winter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter syndrome type 2 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 DOID:0080786 MONDO:equivalentTo Brown-Vialetto-Van Laere syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 -MONDO:0013907 bilateral generalized polymicrogyria DOID:0080920 MONDO:equivalentTo bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria -MONDO:0013953 immunodeficiency 28 DOID:0111995 MONDO:equivalentTo immunodeficiency 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 28 -MONDO:0013964 Diamond-Blackfan anemia 11 DOID:0111892 MONDO:equivalentTo Diamond-Blackfan anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 +MONDO:0013505 spermatogenic failure 9 DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 9 MONDO:0013967 peroxisome biogenesis disorder 14B DOID:0081274 MONDO:equivalentTo peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 14b -MONDO:0014046 Cowden syndrome 4 DOID:0081000 MONDO:equivalentTo Cowden syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 4 -MONDO:0014047 Cowden syndrome 5 DOID:0081001 MONDO:equivalentTo Cowden syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 5 -MONDO:0014048 Cowden syndrome 6 DOID:0081002 MONDO:equivalentTo Cowden syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 6 -MONDO:0014080 osteosclerotic metaphyseal dysplasia DOID:0081111 MONDO:equivalentTo osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerotic metaphyseal dysplasia MONDO:0014087 Smith-McCort dysplasia 2 DOID:0081271 MONDO:equivalentTo Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 2 MONDO:0014150 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:equivalentTo developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 94 -MONDO:0014222 immunodeficiency 14 DOID:0111936 MONDO:equivalentTo immunodeficiency 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 14 -MONDO:0014243 Schaaf-Yang syndrome DOID:0111715 MONDO:equivalentTo Schaaf-Yang syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schaaf-yang syndrome -MONDO:0014245 Diamond-Blackfan anemia 12 DOID:0111882 MONDO:equivalentTo Diamond-Blackfan anemia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 12 -MONDO:0014275 Fanconi renotubular syndrome 3 DOID:0080759 MONDO:equivalentTo Fanconi renotubular syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 3 -MONDO:0014278 immunodeficiency 18 DOID:0111971 MONDO:equivalentTo immunodeficiency 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 18 -MONDO:0014280 immunodeficiency 19 DOID:0111972 MONDO:equivalentTo immunodeficiency 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 19 -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 MONDO:equivalentTo Bosch-Boonstra-Schaaf optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosch-boonstra-schaaf optic atrophy syndrome -MONDO:0014329 atrial standstill 2 DOID:0080663 MONDO:equivalentTo atrial standstill 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill type 2 MONDO:0014346 white sponge nevus 2 DOID:0081288 MONDO:equivalentTo white sponge nevus 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 2 -MONDO:0014353 immunodeficiency 23 DOID:0111953 MONDO:equivalentTo immunodeficiency 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 23 -MONDO:0014394 Diamond-Blackfan anemia 13 DOID:0111889 MONDO:equivalentTo Diamond-Blackfan anemia 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 13 -MONDO:0014453 immunodeficiency 36 DOID:0111949 MONDO:equivalentTo immunodeficiency 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 36 -MONDO:0014491 immunodeficiency 37 DOID:0111939 MONDO:equivalentTo immunodeficiency 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 37 -MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia DOID:0112231 MONDO:equivalentTo lissencephaly 7 with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 7 with cerebellar hypoplasia -MONDO:0014597 immunodeficiency 39 DOID:0111969 MONDO:equivalentTo immunodeficiency 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 39 -MONDO:0014630 familial adenomatous polyposis 3 DOID:0080411 MONDO:equivalentTo familial adenomatous polyposis 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis type 3 -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 DOID:0080913 MONDO:equivalentTo cerebrooculofacioskeletal syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 3 -MONDO:0014727 immunodeficiency 45 DOID:0111994 MONDO:equivalentTo immunodeficiency 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 45 -MONDO:0014802 Cowden syndrome 7 DOID:0081003 MONDO:equivalentTo Cowden syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cowden syndrome type 7 -MONDO:0014838 Coffin-Siris syndrome 5 DOID:0112368 MONDO:equivalentTo Coffin-Siris syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 5 -MONDO:0014926 Bardet-Biedl syndrome 22 DOID:0081011 MONDO:equivalentTo Bardet-Biedl syndrome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 22 -MONDO:0014951 Sotos syndrome 3 DOID:0112104 MONDO:equivalentTo Sotos syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome type 3 -MONDO:0014981 immunodeficiency 49 DOID:0111979 MONDO:equivalentTo immunodeficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 49 -MONDO:0014992 lissencephaly 8 DOID:0112233 MONDO:equivalentTo lissencephaly 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 8 -MONDO:0015021 hypotonia, ataxia, and delayed development syndrome DOID:0081176 MONDO:equivalentTo hypotonia, ataxia, and delayed development syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia, ataxia, and delayed development syndrome -MONDO:0015131 combined immunodeficiency DOID:0111962 MONDO:equivalentTo combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency -MONDO:0015168 arthrogryposis multiplex congenita DOID:0080954 MONDO:equivalentTo arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita -MONDO:0015204 microlissencephaly DOID:0112234 MONDO:equivalentTo microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly -MONDO:0015404 rapidly involuting congenital hemangioma DOID:0080895 MONDO:equivalentTo rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma -MONDO:0015588 limbic encephalitis DOID:0080741 MONDO:equivalentTo limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis -MONDO:0015746 male infertility due to globozoospermia DOID:0112312 MONDO:equivalentTo male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia MONDO:0015760 T-cell non-Hodgkin lymphoma DOID:0081312 MONDO:equivalentTo T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma -MONDO:0015790 central diabetes insipidus DOID:0081055 MONDO:equivalentTo central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus -MONDO:0016052 atypical autism DOID:0060042 MONDO:equivalentTo atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism -MONDO:0016162 bilateral frontal polymicrogyria DOID:0080921 MONDO:equivalentTo bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria -MONDO:0016396 pontocerebellar hypoplasia type 1 DOID:0112322 MONDO:equivalentTo pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 -MONDO:0016486 beta-thalassemia major DOID:0080771 MONDO:equivalentTo beta-thalassemia major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia major -MONDO:0016487 beta-thalassemia intermedia DOID:0080772 MONDO:equivalentTo beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia intermedia -MONDO:0016516 Kenny-Caffey syndrome DOID:0080724 MONDO:equivalentTo Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kenny-caffey syndrome -MONDO:0016584 mandibuloacral dysplasia DOID:0081127 MONDO:equivalentTo mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia -MONDO:0016612 X-linked cerebellar ataxia DOID:0111828 MONDO:equivalentTo X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebellar ataxia -MONDO:0016643 frontonasal dysplasia DOID:0081044 MONDO:equivalentTo frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia -MONDO:0016686 diffuse astrocytoma DOID:4857 MONDO:equivalentTo diffuse astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse astrocytoma -MONDO:0016696 anaplastic oligodendroglioma DOID:7154 MONDO:equivalentTo anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligodendroglioma -MONDO:0016700 anaplastic ependymoma DOID:5889 MONDO:equivalentTo anaplastic ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ependymoma -MONDO:0016705 angiocentric glioma DOID:0081261 MONDO:equivalentTo angiocentric glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiocentric glioma -MONDO:0016723 pineocytoma DOID:0081248 MONDO:equivalentTo pineocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineocytoma -MONDO:0016724 papillary tumor of the pineal region DOID:0081251 MONDO:equivalentTo papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary tumor of the pineal region MONDO:0016727 extraventricular neurocytoma DOID:0081314 MONDO:equivalentTo extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma MONDO:0016735 papillary glioneuronal tumor DOID:0081283 MONDO:equivalentTo papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor -MONDO:0016759 pontocerebellar hypoplasia type 2 DOID:0112328 MONDO:equivalentTo pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 -MONDO:0016763 spondylometaphyseal dysplasia DOID:0112295 MONDO:equivalentTo spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia -MONDO:0017093 unilateral focal polymicrogyria DOID:0080919 MONDO:equivalentTo unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral focal polymicrogyria -MONDO:0017169 multiple endocrine neoplasia DOID:3125 MONDO:equivalentTo multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia -MONDO:0017288 DICER1 syndrome DOID:0081063 MONDO:equivalentTo DICER1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicer1 syndrome -MONDO:0017347 plasmablastic lymphoma DOID:0080779 MONDO:equivalentTo plasmablastic lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmablastic lymphoma -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome DOID:0112177 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0017810 variant ABeta2M amyloidosis DOID:0080929 MONDO:equivalentTo variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis -MONDO:0017858 acute erythroid leukemia DOID:0080780 MONDO:equivalentTo acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia -MONDO:0018053 trichothiodystrophy DOID:0111866 MONDO:equivalentTo trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy -MONDO:0018276 muscular dystrophy-dystroglycanopathy DOID:0112374 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy-dystroglycanopathy -MONDO:0018760 DeSanto-Shinawi syndrome DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome -MONDO:0018801 congenital bilateral absence of vas deferens DOID:0111862 MONDO:equivalentTo congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens -MONDO:0018855 keratosis pilaris atrophicans DOID:0080751 MONDO:equivalentTo keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans -MONDO:0018974 paraneoplastic pemphigus DOID:0080852 MONDO:equivalentTo paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus MONDO:0019091 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia -MONDO:0019127 polymyositis DOID:0080745 MONDO:equivalentTo polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis -MONDO:0019155 Leydig cell hypoplasia DOID:0112259 MONDO:equivalentTo Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia -MONDO:0019165 central precocious puberty DOID:0112308 MONDO:equivalentTo central precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central precocious puberty -MONDO:0019324 pemphigus foliaceus DOID:0080850 MONDO:equivalentTo pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus -MONDO:0019344 antisynthetase syndrome DOID:0080744 MONDO:equivalentTo antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome -MONDO:0019373 desmoplastic small round cell tumor DOID:6785 MONDO:equivalentTo desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor -MONDO:0019458 acute basophilic leukemia DOID:0080795 MONDO:equivalentTo acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia -MONDO:0019461 B-cell prolymphocytic leukemia DOID:0081041 MONDO:equivalentTo B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia MONDO:0019466 lymphomatoid granulomatosis DOID:0081307 MONDO:equivalentTo lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis -MONDO:0019468 T-cell prolymphocytic leukemia DOID:0081042 MONDO:equivalentTo T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia -MONDO:0019474 hepatosplenic T-cell lymphoma DOID:0081049 MONDO:equivalentTo hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma -MONDO:0019479 histiocytic sarcoma DOID:0080915 MONDO:equivalentTo histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma -MONDO:0019624 acquired angioedema DOID:0080941 MONDO:equivalentTo acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema -MONDO:0019667 spondyloepiphyseal dysplasia tarda DOID:0112284 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda -MONDO:0020068 postinfectious encephalitis DOID:10993 MONDO:equivalentTo postinfectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious encephalitis MONDO:0020324 intravascular large B-cell lymphoma DOID:0081311 MONDO:equivalentTo intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma -MONDO:0020340 bilateral perisylvian polymicrogyria DOID:0080924 MONDO:equivalentTo bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria MONDO:0020713 pulmonary venoocclusive disease 1 DOID:0081268 MONDO:equivalentTo pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 1 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 DOID:0081078 MONDO:equivalentTo ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 MONDO:0020793 oculopharyngodistal myopathy 1 DOID:0081297 MONDO:equivalentTo oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 1 -MONDO:0020849 immunodeficiency 57 DOID:0111952 MONDO:equivalentTo immunodeficiency 57 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 57 -MONDO:0020851 spermatogenic failure 30 DOID:0111913 MONDO:equivalentTo spermatogenic failure 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 30 -MONDO:0020852 spermatogenic failure 31 DOID:0111922 MONDO:equivalentTo spermatogenic failure 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 31 -MONDO:0020855 spermatogenic failure 32 DOID:0111925 MONDO:equivalentTo spermatogenic failure 32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 32 MONDO:0021009 salivary gland mucoepidermoid carcinoma DOID:0081293 MONDO:equivalentTo salivary gland mucoepidermoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucoepidermoid carcinoma -MONDO:0021023 complete androgen insensitivity syndrome DOID:0080775 MONDO:equivalentTo complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete androgen insensitivity syndrome -MONDO:0021060 RASopathy DOID:0080690 MONDO:equivalentTo RASopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasopathy -MONDO:0021093 cranioectodermal dysplasia 1 DOID:0080803 MONDO:equivalentTo cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia type 1 -MONDO:0021553 transverse myelitis DOID:0080743 MONDO:equivalentTo transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transverse myelitis -MONDO:0021637 low grade glioma DOID:0080829 MONDO:equivalentTo low grade glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low grade glioma -MONDO:0022519 autoimmune myocarditis DOID:0080767 MONDO:equivalentTo autoimmune myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune myocarditis -MONDO:0022742 occupational asthma DOID:0080820 MONDO:equivalentTo occupational asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occupational asthma -MONDO:0022993 dipsogenic diabetes insipidus DOID:0081058 MONDO:equivalentTo dipsogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dipsogenic diabetes insipidus -MONDO:0023227 gestational diabetes insipidus DOID:0081057 MONDO:equivalentTo gestational diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational diabetes insipidus -MONDO:0023664 spermatogenic failure 54 DOID:0112335 MONDO:equivalentTo spermatogenic failure 54 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 54 -MONDO:0023670 Bardet-Biedl syndrome 20 DOID:0081009 MONDO:equivalentTo Bardet-Biedl syndrome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 20 MONDO:0023671 oculopharyngodistal myopathy 3 DOID:0081299 MONDO:equivalentTo oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 3 -MONDO:0024299 vitamin D-dependent rickets DOID:0080883 MONDO:equivalentTo vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d-dependent rickets -MONDO:0024525 Fanconi renotubular syndrome 1 DOID:0080757 MONDO:equivalentTo Fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 1 -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 DOID:0080785 MONDO:equivalentTo Brown-Vialetto-Van Laere syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 1 -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 DOID:0111808 MONDO:equivalentTo linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear skin defects with multiple congenital anomalies type 1 -MONDO:0024568 infantile liver failure syndrome 1 DOID:0080717 MONDO:equivalentTo infantile liver failure syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 1 MONDO:0025193 oculopharyngodistal myopathy DOID:0081296 MONDO:equivalentTo oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy -MONDO:0025699 Coffin-Siris syndrome 12 DOID:0112370 MONDO:equivalentTo Coffin-Siris syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 12 -MONDO:0026722 Mullegama-Klein-Martinez syndrome DOID:0111845 MONDO:equivalentTo Mullegama-Klein-Martinez syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mullegama-klein-martinez syndrome -MONDO:0026724 Paganini-Miozzo syndrome DOID:0111843 MONDO:equivalentTo Paganini-Miozzo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paganini-miozzo syndrome -MONDO:0026727 Shukla-Vernon syndrome DOID:0111841 MONDO:equivalentTo Shukla-Vernon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shukla-vernon syndrome -MONDO:0026730 Basilicata-Akhtar syndrome DOID:0111838 MONDO:equivalentTo Basilicata-Akhtar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basilicata-akhtar syndrome -MONDO:0026777 VEXAS syndrome DOID:0080828 MONDO:equivalentTo VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome -MONDO:0029147 spermatogenic failure 33 DOID:0111915 MONDO:equivalentTo spermatogenic failure 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 33 -MONDO:0029148 spermatogenic failure 34 DOID:0111911 MONDO:equivalentTo spermatogenic failure 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 34 -MONDO:0030006 combined oxidative phosphorylation deficiency 40 DOID:0112117 MONDO:equivalentTo combined oxidative phosphorylation deficiency 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 40 -MONDO:0030007 combined oxidative phosphorylation deficiency 41 DOID:0112119 MONDO:equivalentTo combined oxidative phosphorylation deficiency 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 41 -MONDO:0030008 combined oxidative phosphorylation deficiency 42 DOID:0112118 MONDO:equivalentTo combined oxidative phosphorylation deficiency 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 42 -MONDO:0030013 immunodeficiency 66 DOID:0111998 MONDO:equivalentTo immunodeficiency 66 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 66 -MONDO:0030017 combined oxidative phosphorylation deficiency 43 DOID:0112116 MONDO:equivalentTo combined oxidative phosphorylation deficiency 43 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 43 -MONDO:0030019 anauxetic dysplasia 3 DOID:0080963 MONDO:equivalentTo anauxetic dysplasia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia type 3 -MONDO:0030026 retinal dystrophy with leukodystrophy DOID:0080946 MONDO:equivalentTo retinal dystrophy with leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with leukodystrophy -MONDO:0030031 lissencephaly 10 DOID:0112229 MONDO:equivalentTo lissencephaly 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 10 -MONDO:0030049 46,xx sex reversal 5 DOID:0080943 MONDO:equivalentTo 46,XX sex reversal 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 5 -MONDO:0030056 Fanconi renotubular syndrome 5 DOID:0080761 MONDO:equivalentTo Fanconi renotubular syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi renotubular syndrome type 5 -MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome DOID:0080948 MONDO:equivalentTo agenesis of corpus callosum, cardiac, ocular, and genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of corpus callosum, cardiac, ocular, and genital syndrome -MONDO:0030067 Treacher Collins syndrome 4 DOID:0080792 MONDO:equivalentTo Treacher Collins syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher collins syndrome type 4 -MONDO:0030071 retinitis pigmentosa 89 DOID:0112146 MONDO:equivalentTo retinitis pigmentosa 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 89 -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy DOID:0112303 MONDO:equivalentTo spondylometaphyseal dysplasia with corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030134 oculopharyngodistal myopathy 2 DOID:0081298 MONDO:equivalentTo oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 2 -MONDO:0030307 spermatogenic failure 55 DOID:0112337 MONDO:equivalentTo spermatogenic failure 55 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 55 -MONDO:0030430 spermatogenic failure 56 DOID:0112336 MONDO:equivalentTo spermatogenic failure 56 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 56 -MONDO:0030439 spermatogenic failure 57 DOID:0112338 MONDO:equivalentTo spermatogenic failure 57 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 57 -MONDO:0030463 spermatogenic failure 58 DOID:0112352 MONDO:equivalentTo spermatogenic failure 58 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 58 -MONDO:0030492 spermatogenic failure 59 DOID:0112357 MONDO:equivalentTo spermatogenic failure 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 59 -MONDO:0030493 spermatogenic failure 60 DOID:0112355 MONDO:equivalentTo spermatogenic failure 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 60 -MONDO:0030507 spermatogenic failure 61 DOID:0112350 MONDO:equivalentTo spermatogenic failure 61 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 61 -MONDO:0030508 spermatogenic failure 62 DOID:0112351 MONDO:equivalentTo spermatogenic failure 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 62 -MONDO:0030515 spermatogenic failure 63 DOID:0112356 MONDO:equivalentTo spermatogenic failure 63 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 63 -MONDO:0030522 spermatogenic failure 64 DOID:0112353 MONDO:equivalentTo spermatogenic failure 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 64 -MONDO:0030531 spermatogenic failure 65 DOID:0112354 MONDO:equivalentTo spermatogenic failure 65 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 65 -MONDO:0030639 Teebi hypertelorism syndrome DOID:0081073 MONDO:equivalentTo Teebi hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome -MONDO:0030674 Teebi hypertelorism syndrome 2 DOID:0081074 MONDO:equivalentTo Teebi hypertelorism syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 2 MONDO:0030712 oculopharyngodistal myopathy 4 DOID:0081300 MONDO:equivalentTo oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 4 -MONDO:0030844 spermatogenic failure 47 DOID:0112175 MONDO:equivalentTo spermatogenic failure 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 47 -MONDO:0030846 spermatogenic failure 48 DOID:0112176 MONDO:equivalentTo spermatogenic failure 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 48 -MONDO:0030856 developmental and epileptic encephalopathy 89 DOID:0112223 MONDO:equivalentTo developmental and epileptic encephalopathy 89 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 89 -MONDO:0030868 spermatogenic failure 49 DOID:0112271 MONDO:equivalentTo spermatogenic failure 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 49 -MONDO:0030926 spermatogenic failure 51 DOID:0112273 MONDO:equivalentTo spermatogenic failure 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 51 -MONDO:0030938 spermatogenic failure 52 DOID:0112270 MONDO:equivalentTo spermatogenic failure 52 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 52 -MONDO:0030981 immunodeficiency 79 DOID:0112277 MONDO:equivalentTo immunodeficiency 79 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 79 -MONDO:0030989 spermatogenic failure 53 DOID:0112279 MONDO:equivalentTo spermatogenic failure 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 53 -MONDO:0031219 mismatch repair cancer syndrome DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mismatch repair cancer syndrome -MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies DOID:0112358 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies -MONDO:0032577 retinitis pigmentosa 83 DOID:0112140 MONDO:equivalentTo retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 83 -MONDO:0032599 immunodeficiency 15a DOID:0111960 MONDO:equivalentTo immunodeficiency 15A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 15a -MONDO:0032604 retinitis pigmentosa 84 DOID:0112141 MONDO:equivalentTo retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 84 -MONDO:0032668 Diamond-Blackfan anemia 18 DOID:0111896 MONDO:equivalentTo Diamond-Blackfan anemia 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 18 -MONDO:0032669 Diamond-Blackfan anemia 19 DOID:0111886 MONDO:equivalentTo Diamond-Blackfan anemia 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 19 -MONDO:0032670 Diamond-Blackfan anemia 20 DOID:0111891 MONDO:equivalentTo Diamond-Blackfan anemia 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 20 -MONDO:0032677 lissencephaly 9 with complex brainstem malformation DOID:0112228 MONDO:equivalentTo lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 9 with complex brainstem malformation -MONDO:0032686 spermatogenic failure 35 DOID:0111914 MONDO:equivalentTo spermatogenic failure 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 35 MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 MONDO:equivalentTo intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -MONDO:0032689 retinitis pigmentosa 85 DOID:0112142 MONDO:equivalentTo retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 85 -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations DOID:0081051 MONDO:equivalentTo microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly, growth deficiency, seizures, and brain malformations -MONDO:0032702 Coffin-Siris syndrome 8 DOID:0112367 MONDO:equivalentTo Coffin-Siris syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 8 -MONDO:0032723 immunodeficiency 60 DOID:0111954 MONDO:equivalentTo immunodeficiency 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 60 -MONDO:0032739 spermatogenic failure 36 DOID:0111921 MONDO:equivalentTo spermatogenic failure 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 36 -MONDO:0032744 spermatogenic failure 37 DOID:0111927 MONDO:equivalentTo spermatogenic failure 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 37 -MONDO:0032748 spermatogenic failure 38 DOID:0111919 MONDO:equivalentTo spermatogenic failure 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 38 -MONDO:0032763 immunodeficiency 62 DOID:0111991 MONDO:equivalentTo immunodeficiency 62 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 62 -MONDO:0032783 aortic valve disease 3 DOID:0080977 MONDO:equivalentTo aortic valve disease 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic valve disorder type 3 -MONDO:0032786 Noonan syndrome 11 DOID:0112169 MONDO:equivalentTo Noonan syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 -MONDO:0032791 Coffin-Siris syndrome 10 DOID:0112371 MONDO:equivalentTo Coffin-Siris syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 10 -MONDO:0032794 leber congenital amaurosis 19 DOID:0081169 MONDO:equivalentTo Leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis type 19 -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 DOID:0080766 MONDO:equivalentTo erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis et progressiva type 6 -MONDO:0032803 immunodeficiency 64 DOID:0111980 MONDO:equivalentTo immunodeficiency 64 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 64 -MONDO:0032834 retinitis pigmentosa 86 DOID:0112143 MONDO:equivalentTo retinitis pigmentosa 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 86 -MONDO:0032837 abdominal obesity-metabolic syndrome 4 DOID:0080945 MONDO:equivalentTo abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal obesity-metabolic syndrome type 4 -MONDO:0032839 noonan syndrome 12 DOID:0112170 MONDO:equivalentTo Noonan syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 MONDO:0032842 Siddiqi syndrome DOID:0081273 MONDO:equivalentTo Siddiqi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siddiqi syndrome -MONDO:0032845 spermatogenic failure 39 DOID:0111926 MONDO:equivalentTo spermatogenic failure 39 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 39 -MONDO:0032859 spermatogenic failure 40 DOID:0111918 MONDO:equivalentTo spermatogenic failure 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 40 -MONDO:0032863 spermatogenic failure 41 DOID:0111912 MONDO:equivalentTo spermatogenic failure 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 41 MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 MONDO:equivalentTo pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures -MONDO:0032896 spermatogenic failure 42 DOID:0111923 MONDO:equivalentTo spermatogenic failure 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 42 -MONDO:0032898 spermatogenic failure 43 DOID:0111917 MONDO:equivalentTo spermatogenic failure 43 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 43 -MONDO:0032912 Coffin-Siris syndrome 11 DOID:0112372 MONDO:equivalentTo Coffin-Siris syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 11 MONDO:0032926 sandestig-stefanova syndrome DOID:0081272 MONDO:equivalentTo Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandestig-stefanova syndrome -MONDO:0032940 retinitis pigmentosa 88 DOID:0112145 MONDO:equivalentTo retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 88 -MONDO:0033533 combined oxidative phosphorylation deficiency 45 DOID:0112113 MONDO:equivalentTo combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 45 -MONDO:0033534 combined oxidative phosphorylation deficiency 46 DOID:0112115 MONDO:equivalentTo combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 46 -MONDO:0033537 combined oxidative phosphorylation deficiency 47 DOID:0112114 MONDO:equivalentTo combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 47 -MONDO:0033541 immunodeficiency 69 DOID:0112006 MONDO:equivalentTo immunodeficiency 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 69 -MONDO:0033542 immunodeficiency 70 DOID:0112005 MONDO:equivalentTo immunodeficiency 70 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 70 -MONDO:0033549 optic atrophy 12 DOID:0080840 MONDO:equivalentTo optic atrophy 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy type 12 -MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia DOID:0112061 MONDO:equivalentTo immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 73b with defective neutrophil chemotaxis and lymphopenia -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia DOID:0112062 MONDO:equivalentTo immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 73c with defective neutrophil chemotaxis and hypogammaglobulinemia -MONDO:0033563 retinitis pigmentosa 90 DOID:0112147 MONDO:equivalentTo retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa type 90 -MONDO:0033566 combined oxidative phosphorylation deficiency 48 DOID:0112112 MONDO:equivalentTo combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 48 -MONDO:0033569 combined oxidative phosphorylation deficiency 49 DOID:0112110 MONDO:equivalentTo combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 49 -MONDO:0033570 combined oxidative phosphorylation deficiency 50 DOID:0112111 MONDO:equivalentTo combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 50 -MONDO:0033620 myofibrillar myopathy 10 DOID:0112108 MONDO:equivalentTo myofibrillar myopathy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy type 10 -MONDO:0033622 spermatogenic failure 44 DOID:0112109 MONDO:equivalentTo spermatogenic failure 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 44 -MONDO:0033631 combined oxidative phosphorylation deficiency 51 DOID:0112137 MONDO:equivalentTo combined oxidative phosphorylation deficiency 51 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 51 -MONDO:0033643 inflammatory bowel disease 30 DOID:0112154 MONDO:equivalentTo inflammatory bowel disease 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 30 -MONDO:0033669 Noonan syndrome 13 DOID:0112161 MONDO:equivalentTo Noonan syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 -MONDO:0033671 spermatogenic failure 45 DOID:0112163 MONDO:equivalentTo spermatogenic failure 45 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 45 -MONDO:0033673 spermatogenic failure 46 DOID:0112164 MONDO:equivalentTo spermatogenic failure 46 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 46 -MONDO:0033980 RELA fusion-positive ependymoma DOID:0080892 MONDO:equivalentTo RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma -MONDO:0034127 IgA pemphigus DOID:0080851 MONDO:equivalentTo IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 DOID:0080976 MONDO:equivalentTo acute myeloid leukemia with BCR-ABL1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with bcr-abl1 -MONDO:0035153 male infertility due to acephalic spermatozoa DOID:0112311 MONDO:equivalentTo male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to acephalic spermatozoa -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy DOID:0080646 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hyperdiploidy -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy DOID:0080647 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hypodiploidy -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 MONDO:equivalentTo glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycosylphosphatidylinositol biosynthesis defect type 16 -MONDO:0043275 TORCH syndrome DOID:0080835 MONDO:equivalentTo TORCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torch syndrome -MONDO:0044210 thalassemia minor DOID:0080774 MONDO:equivalentTo thalassemia minor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalassemia minor -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder DOID:0112247 MONDO:equivalentTo congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder -MONDO:0044308 bardet-biedl syndrome 21 DOID:0081010 MONDO:equivalentTo Bardet-Biedl syndrome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome type 21 -MONDO:0044309 Diamond-Blackfan anemia 16 DOID:0111893 MONDO:equivalentTo Diamond-Blackfan anemia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 16 -MONDO:0044310 Diamond-Blackfan anemia 17 DOID:0111880 MONDO:equivalentTo Diamond-Blackfan anemia 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 17 -MONDO:0044923 acute myeloid leukemia with mutated NPM1 DOID:0081089 MONDO:equivalentTo acute myeloid leukemia with mutated NPM1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with mutated npm1 -MONDO:0045055 glycogen-rich carcinoma DOID:0081028 MONDO:equivalentTo glycogen-rich carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen-rich carcinoma -MONDO:0054561 anauxetic dysplasia 2 DOID:0080962 MONDO:equivalentTo anauxetic dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia type 2 -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 DOID:0080693 MONDO:equivalentTo Noonan syndrome-like disorder with loose anagen hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 MONDO:equivalentTo Noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 -MONDO:0054696 immunodeficiency 53 DOID:0111992 MONDO:equivalentTo immunodeficiency 53 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 53 -MONDO:0054728 spermatogenic failure 24 DOID:0111929 MONDO:equivalentTo spermatogenic failure 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 24 -MONDO:0054729 spermatogenic failure 25 DOID:0111920 MONDO:equivalentTo spermatogenic failure 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 25 -MONDO:0054730 spermatogenic failure 26 DOID:0111924 MONDO:equivalentTo spermatogenic failure 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 26 -MONDO:0054731 spermatogenic failure 27 DOID:0111928 MONDO:equivalentTo spermatogenic failure 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 27 -MONDO:0054732 spermatogenic failure 28 DOID:0111916 MONDO:equivalentTo spermatogenic failure 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 28 -MONDO:0054733 spermatogenic failure 29 DOID:0111930 MONDO:equivalentTo spermatogenic failure 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 29 -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 DOID:0080689 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 3 MONDO:0054752 multiple synostoses syndrome 4 DOID:0081320 MONDO:equivalentTo multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 4 -MONDO:0054831 Coffin-Siris syndrome 7 DOID:0112369 MONDO:equivalentTo Coffin-Siris syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome type 7 -MONDO:0054849 inflammatory bowel disease 29 DOID:0112155 MONDO:equivalentTo inflammatory bowel disease 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 29 -MONDO:0060455 X-linked congenital hemolytic anemia DOID:0111846 MONDO:equivalentTo X-linked congenital hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked congenital hemolytic anemia -MONDO:0060491 neurodevelopmental disorder with involuntary movements DOID:0112276 MONDO:equivalentTo neurodevelopmental disorder with involuntary movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with involuntary movements -MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID:0112359 MONDO:equivalentTo congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay -MONDO:0060650 Leber congenital amaurosis with early-onset deafness DOID:0112240 MONDO:equivalentTo Leber congenital amaurosis with early-onset deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis with early-onset deafness MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities -MONDO:0060732 tetraamelia syndrome 2 DOID:0112193 MONDO:equivalentTo tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia syndrome type 2 MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures -MONDO:0060764 tetraamelia syndrome 1 DOID:0112192 MONDO:equivalentTo tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia syndrome type 1 -MONDO:0100062 developmental and epileptic encephalopathy DOID:0112202 MONDO:equivalentTo developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy -MONDO:0100063 Pericytoma with t(7;12) DOID:0080896 MONDO:equivalentTo pericytoma with t(7;12) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pericytoma with t(7;12) -MONDO:0100105 brain small vessel disease 3 DOID:0112315 MONDO:equivalentTo brain small vessel disease 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain small vessel disorder type 3 -MONDO:0100115 acute flaccid myelitis DOID:0080947 MONDO:equivalentTo acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0100153 tubulinopathy DOID:0112227 MONDO:equivalentTo tubulinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulinopathy -MONDO:0100160 alcoholic ketoacidosis DOID:0080949 MONDO:equivalentTo alcoholic ketoacidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic ketoacidosis -MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 MONDO:equivalentTo multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0100250 46,XX sex reversal 1 DOID:0111761 MONDO:equivalentTo 46,XX sex reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 -MONDO:0100338 urinary tract infection DOID:0080784 MONDO:equivalentTo urinary tract infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection -MONDO:0100340 Friedreich ataxia 1 DOID:0111218 MONDO:equivalentTo Friedreich ataxia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia type 1 -MONDO:0800025 Teebi hypertelorism syndrome 1 DOID:0080698 MONDO:equivalentTo Teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi hypertelorism syndrome type 1 -MONDO:0850092 post-cardiac arrest syndrome DOID:0070306 MONDO:equivalentTo post-cardiac arrest syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-cardiac arrest syndrome -MONDO:0850093 absence epilepsy DOID:0070309 MONDO:equivalentTo absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence epilepsy -MONDO:0850101 spitzoid melanoma DOID:0070326 MONDO:equivalentTo spitzoid melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spitzoid melanoma -MONDO:0850110 melanoma in congenital melanocytic nevus DOID:0070327 MONDO:equivalentTo melanoma in congenital melanocytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma in congenital melanocytic nevus -MONDO:0850112 breast implant-associated anaplastic large cell lymphoma DOID:0070333 MONDO:equivalentTo breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma -MONDO:0850125 malignant adenoma DOID:0080364 MONDO:equivalentTo malignant adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant adenoma -MONDO:0850128 epididymis disease DOID:0080373 MONDO:equivalentTo epididymis disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epididymis disorder -MONDO:0850129 gastroesophageal cancer DOID:0080374 MONDO:equivalentTo gastroesophageal cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroesophageal cancer -MONDO:0850130 gastroesophageal adenocarcinoma DOID:0080375 MONDO:equivalentTo gastroesophageal adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroesophageal adenocarcinoma -MONDO:0850149 nephroma DOID:0080615 MONDO:equivalentTo nephroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephroma -MONDO:0850151 lymph node carcinoma DOID:0080618 MONDO:equivalentTo lymph node carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymph node carcinoma -MONDO:0850152 auditory system benign neoplasm DOID:0080619 MONDO:equivalentTo auditory system benign neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auditory system benign neoplasm -MONDO:0850154 tongue carcinoma DOID:0080641 MONDO:equivalentTo tongue carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue carcinoma -MONDO:0850156 B-lymphoblastic leukemia/lymphoma MLL rearranged DOID:0080644 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma MLL rearranged semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma mll rearranged -MONDO:0850157 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 DOID:0080645 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with etv6-runx1 -MONDO:0850160 B-lymphoblastic leukemia/lymphoma with IL3-IGH DOID:0080648 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with IL3-IGH semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with il3-igh -MONDO:0850161 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like DOID:0080650 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma, bcr-abl1–like -MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 DOID:0080651 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with iAMP21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with iamp21 -MONDO:0850199 NK cell deficiency DOID:0080709 MONDO:equivalentTo NK cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nk cell deficiency -MONDO:0850200 T cell and NK cell immunodeficiency DOID:0080710 MONDO:equivalentTo T cell and NK cell immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t cell and nk cell immunodeficiency -MONDO:0850201 hereditary alpha tryptasemia syndrome DOID:0080714 MONDO:equivalentTo hereditary alpha tryptasemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary alpha tryptasemia syndrome -MONDO:0850223 Libman-Sacks endocarditis DOID:0080740 MONDO:equivalentTo Libman-Sacks endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label libman-sacks endocarditis -MONDO:0850273 salivary gland mucinous adenocarcinoma DOID:0080800 MONDO:equivalentTo salivary gland mucinous adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucinous adenocarcinoma -MONDO:0850281 mammary analogue secretory carcinoma DOID:0080808 MONDO:equivalentTo mammary analogue secretory carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mammary analogue secretory carcinoma -MONDO:0850295 acquired laryngomalacia DOID:0080834 MONDO:equivalentTo acquired laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired laryngomalacia -MONDO:0850338 spinal ependymoma, MYCN-amplified DOID:0080888 MONDO:equivalentTo spinal ependymoma, MYCN-amplified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal ependymoma, mycn-amplified -MONDO:0850345 lung pleomorphic carcinoma DOID:0080899 MONDO:equivalentTo lung pleomorphic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung pleomorphic carcinoma -MONDO:0850347 bladder sarcomatoid transitional cell carcinoma DOID:0080901 MONDO:equivalentTo bladder sarcomatoid transitional cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder sarcomatoid transitional cell carcinoma -MONDO:0850348 bladder small cell carcinoma DOID:0080902 MONDO:equivalentTo bladder small cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder small cell carcinoma -MONDO:0850371 nonobstructive coronary artery disease DOID:0080938 MONDO:equivalentTo nonobstructive coronary artery disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nonobstructive coronary artery disorder -MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080956 MONDO:equivalentTo childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered -MONDO:0850426 high-grade B-cell lymphoma double-hit/triple-hit DOID:0081004 MONDO:equivalentTo high-grade B-cell lymphoma double-hit/triple-hit semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade b-cell lymphoma double-hit/triple-hit -MONDO:0850445 benign peritoneal solitary fibrous tumor DOID:0081026 MONDO:equivalentTo benign peritoneal solitary fibrous tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign peritoneal solitary fibrous tumor -MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma DOID:0081050 MONDO:equivalentTo primary cutaneous gamma-delta T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma-delta t-cell lymphoma -MONDO:0850461 neurobehavioral disorder with prenatal alcohol exposure DOID:0081052 MONDO:equivalentTo neurobehavioral disorder with prenatal alcohol exposure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurobehavioral disorder with prenatal alcohol exposure -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities DOID:0081121 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities -MONDO:0850519 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia DOID:0081132 MONDO:equivalentTo tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia -MONDO:0850812 dendritic cell deficiency DOID:0111963 MONDO:equivalentTo dendritic cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell deficiency -MONDO:0851095 KINSSHIP syndrome DOID:0112383 MONDO:equivalentTo KINSSHIP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome -MONDO:0851100 malignant olfactory nerve neoplasm DOID:370 MONDO:equivalentTo malignant olfactory nerve neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm -MONDO:0851103 Bartholin's gland disease DOID:60002 MONDO:equivalentTo Bartholin's gland disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartholins gland disorder -MONDO:0851105 cerebrovascular benign neoplasm DOID:60007 MONDO:equivalentTo cerebrovascular benign neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrovascular benign neoplasm diff --git a/src/ontology/lexmatch/unmapped_icd_lex.tsv b/src/ontology/lexmatch/unmapped_icd_lex.tsv index 01cf2e5b..ee0deb8c 100644 --- a/src/ontology/lexmatch/unmapped_icd_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd_lex.tsv @@ -4,16 +4,16 @@ MONDO:0000078 acrocephalopolysyndactyly ICD10CM:Q87.0 MONDO:equivalentTo Congeni MONDO:0000129 glutaric aciduria ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric aciduria MONDO:0000129 glutaric aciduria ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutaric aciduria MONDO:0000153 transposition of the great arteries ICD10CM:Q20.3 MONDO:equivalentTo Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transposition of great vessels -MONDO:0000156 trigonocephaly ICD10CM:Q75.0 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trigonocephaly MONDO:0000156 trigonocephaly ICD10CM:Q75.0 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trigonocephaly +MONDO:0000156 trigonocephaly ICD10CM:Q75.0 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trigonocephaly MONDO:0000239 adiaspiromycosis ICD10CM:B48.8 MONDO:equivalentTo Other specified mycoses semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adiaspiromycosis MONDO:0000239 adiaspiromycosis ICD10CM:B48.8 MONDO:equivalentTo Other specified mycoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adiaspiromycosis MONDO:0000241 Keshan disease ICD10CM:E59 MONDO:equivalentTo Dietary selenium deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keshan disorder MONDO:0000265 aspiration pneumonia ICD10CM:J69.0 MONDO:equivalentTo Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspiration pneumonia MONDO:0000265 aspiration pneumonia ICD10CM:J69.0 MONDO:equivalentTo Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspiration pneumonia MONDO:0000290 primary amebic meningoencephalitis ICD10CM:B60.2 MONDO:equivalentTo Naegleriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary amebic meningoencephalitis -MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coenurosis +MONDO:0000293 coenurosis ICD10CM:B71.8 MONDO:equivalentTo Other specified cestode infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coenurosis MONDO:0000295 acanthocephaliasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthocephaliasis MONDO:0000299 thelaziasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thelaziasis MONDO:0000299 thelaziasis ICD10CM:B83.8 MONDO:equivalentTo Other specified helminthiases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thelaziasis @@ -24,8 +24,8 @@ MONDO:0000345 Oropouche fever ICD10CM:A93.0 MONDO:equivalentTo Oropouche virus d MONDO:0000372 pharynx carcinoma in situ ICD10CM:D00.08 MONDO:equivalentTo Carcinoma in situ of pharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of pharynx MONDO:0000384 bladder benign neoplasm ICD10CM:D30.3 MONDO:equivalentTo Benign neoplasm of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of bladder MONDO:0000405 anal canal cancer ICD10CM:C21.1 MONDO:equivalentTo Malignant neoplasm of anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of anal canal -MONDO:0000432 lymphoplasmacytic lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoplasmacytic lymphoma MONDO:0000432 lymphoplasmacytic lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoplasmacytic lymphoma +MONDO:0000432 lymphoplasmacytic lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphoplasmacytic lymphoma MONDO:0000440 metabolic acidosis ICD10CM:E87.2 MONDO:equivalentTo Acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metabolic acidosis MONDO:0000466 first-degree atrioventricular block ICD10CM:I44.0 MONDO:equivalentTo Atrioventricular block, first degree semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular block, first degree MONDO:0000467 second-degree atrioventricular block ICD10CM:I44.1 MONDO:equivalentTo Atrioventricular block, second degree semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular block, second degree @@ -37,14 +37,14 @@ MONDO:0000643 vulvar benign neoplasm ICD10CM:D28.0 MONDO:equivalentTo Benign neo MONDO:0000645 fallopian tube benign neoplasm ICD10CM:D28.2 MONDO:equivalentTo Benign neoplasm of uterine tubes and ligaments semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neoplasm of fallopian tube MONDO:0000647 benign vaginal neoplasm ICD10CM:D28.1 MONDO:equivalentTo Benign neoplasm of vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of vagina MONDO:0000701 ischemic colitis ICD10CM:K55.9 MONDO:equivalentTo Vascular disorder of intestine, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ischemic colitis -MONDO:0000741 angular cheilitis ICD10CM:K13.0 MONDO:equivalentTo Diseases of lips semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angular cheilitis MONDO:0000741 angular cheilitis ICD10CM:K13.0 MONDO:equivalentTo Diseases of lips semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angular cheilitis +MONDO:0000741 angular cheilitis ICD10CM:K13.0 MONDO:equivalentTo Diseases of lips semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym angular cheilitis MONDO:0000751 cervical polyp ICD10CM:N84.1 MONDO:equivalentTo Polyp of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of cervix uteri MONDO:0000754 anal fistula ICD10CM:K60.5 MONDO:equivalentTo Anorectal fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anorectal fistula MONDO:0000809 purpura fulminans ICD10CM:D65 MONDO:equivalentTo Disseminated intravascular coagulation [defibrination syndrome] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura fulminans MONDO:0000827 salmonellosis ICD10CM:A02.0 MONDO:equivalentTo Salmonella enteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salmonellosis -MONDO:0000845 fibrous dysplasia ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia MONDO:0000845 fibrous dysplasia ICD10CM:M85.0 MONDO:equivalentTo Fibrous dysplasia (monostotic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia +MONDO:0000845 fibrous dysplasia ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrous dysplasia MONDO:0000888 gastrointestinal mucositis ICD10CM:K92.81 MONDO:equivalentTo Gastrointestinal mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gastrointestinal mucositis MONDO:0000919 ampulla of vater cancer ICD10CM:C24.1 MONDO:equivalentTo Malignant neoplasm of ampulla of Vater semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ampulla of vater MONDO:0000920 duodenum cancer ICD10CM:C17.0 MONDO:equivalentTo Malignant neoplasm of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of duodenum @@ -60,58 +60,58 @@ MONDO:0000979 pinta disease ICD10CM:A67 MONDO:equivalentTo Pinta [carate] semapv MONDO:0000980 aortic atherosclerosis ICD10CM:I70.0 MONDO:equivalentTo Atherosclerosis of aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atherosclerosis of aorta MONDO:0000984 thalassemia ICD10CM:D57.40 MONDO:equivalentTo Sickle-cell thalassemia without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell thalassemia without crisis MONDO:0000990 acute subendocardial myocardial infarction ICD10CM:I21.4 MONDO:equivalentTo Non-ST elevation (NSTEMI) myocardial infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute subendocardial myocardial infarction -MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial periodic paralysis MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial periodic paralysis +MONDO:0000995 familial periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial periodic paralysis MONDO:0001016 epididymis cancer ICD10CM:C63.0 MONDO:equivalentTo Malignant neoplasm of epididymis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of epididymis MONDO:0001019 suppression amblyopia ICD10CM:H53.03 MONDO:equivalentTo Strabismic amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label strabismic amblyopia MONDO:0001021 ametropic amblyopia ICD10CM:H53.02 MONDO:equivalentTo Refractive amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractive amblyopia MONDO:0001022 disuse amblyopia ICD10CM:H53.01 MONDO:equivalentTo Deprivation amblyopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deprivation amblyopia MONDO:0001031 purulent acute otitis media ICD10CM:H66.0 MONDO:equivalentTo Acute suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute suppurative otitis media MONDO:0001040 nasopharyngitis ICD10CM:J31.1 MONDO:equivalentTo Chronic nasopharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic nasopharyngitis -MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imperforate anus MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym imperforate anus -MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of prepylorus +MONDO:0001046 imperforate anus ICD10CM:Q42.3 MONDO:equivalentTo Congenital absence, atresia and stenosis of anus without fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym imperforate anus MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pylorus +MONDO:0001061 pylorus cancer ICD10CM:C16.4 MONDO:equivalentTo Malignant neoplasm of pylorus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of prepylorus MONDO:0001062 pyloric antrum cancer ICD10CM:C16.3 MONDO:equivalentTo Malignant neoplasm of pyloric antrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pyloric antrum MONDO:0001065 supine hypotensive syndrome ICD10CM:O26.5 MONDO:equivalentTo Maternal hypotension syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supine hypotensive syndrome -MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws -MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frambesia, initial or primary +MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym initial frambesial ulcer MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label initial lesions of yaws +MONDO:0001067 early yaws ICD10CM:A66.0 MONDO:equivalentTo Initial lesions of yaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chancre of yaws MONDO:0001067 early yaws ICD10CM:A66.2 MONDO:equivalentTo Other early skin lesions of yaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early yaws MONDO:0001087 schizotypal personality disorder ICD10CM:F21 MONDO:equivalentTo Schizotypal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizotypal personality disorder MONDO:0001099 lactocele ICD10CM:N64.89 MONDO:equivalentTo Other specified disorders of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactocele MONDO:0001103 giardiasis ICD10CM:A07.1 MONDO:equivalentTo Giardiasis [lambliasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giardiasis MONDO:0001104 toxic diffuse goiter ICD10CM:E05.0 MONDO:equivalentTo Thyrotoxicosis with diffuse goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxic diffuse goiter MONDO:0001106 kidney failure ICD10CM:N28.9 MONDO:equivalentTo Disorder of kidney and ureter, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal insufficiency -MONDO:0001109 petrositis ICD10CM:H70.21 MONDO:equivalentTo Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis MONDO:0001109 petrositis ICD10CM:H70.22 MONDO:equivalentTo Chronic petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic petrositis +MONDO:0001109 petrositis ICD10CM:H70.21 MONDO:equivalentTo Acute petrositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute petrositis MONDO:0001110 chronic pyelonephritis ICD10CM:N11 MONDO:equivalentTo Chronic tubulo-interstitial nephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic pyelonephritis -MONDO:0001115 familial polycythemia ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia MONDO:0001115 familial polycythemia ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial polycythemia -MONDO:0001116 mesenteric lymphadenitis ICD10CM:I88.0 MONDO:equivalentTo Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric lymphadenitis +MONDO:0001115 familial polycythemia ICD10CM:D75.0 MONDO:equivalentTo Familial erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polycythemia MONDO:0001116 mesenteric lymphadenitis ICD10CM:I88.0 MONDO:equivalentTo Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesenteric lymphadenitis +MONDO:0001116 mesenteric lymphadenitis ICD10CM:I88.0 MONDO:equivalentTo Nonspecific mesenteric lymphadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric lymphadenitis MONDO:0001118 Queensland tick typhus ICD10CM:A77.3 MONDO:equivalentTo Spotted fever due to Rickettsia australis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym queensland tick typhus MONDO:0001128 nasal cavity cancer ICD10CM:C30.0 MONDO:equivalentTo Malignant neoplasm of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasal cavity MONDO:0001147 meningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningocele MONDO:0001147 meningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningocele -MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym siberian tick typhus MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym north asian tick fever +MONDO:0001154 Siberian tick typhus ICD10CM:A77.2 MONDO:equivalentTo Spotted fever due to Rickettsia siberica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym siberian tick typhus MONDO:0001155 gastrojejunal ulcer ICD10CM:K28.1 MONDO:equivalentTo Acute gastrojejunal ulcer with perforation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute gastrojejunal ulcer with perforation MONDO:0001166 nephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephritis MONDO:0001168 spastic hemiplegia ICD10CM:G80.2 MONDO:equivalentTo Spastic hemiplegic cerebral palsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic hemiplegic cerebral palsy -MONDO:0001171 acute salpingo-oophoritis ICD10CM:N70.03 MONDO:equivalentTo Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis MONDO:0001171 acute salpingo-oophoritis ICD10CM:N70.0 MONDO:equivalentTo Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis -MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder +MONDO:0001171 acute salpingo-oophoritis ICD10CM:N70.03 MONDO:equivalentTo Acute salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute salpingitis and oophoritis MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym salpingo-oophoritis MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian abscess +MONDO:0001172 salpingo-oophoritis ICD10CM:N70 MONDO:equivalentTo Salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubo-ovarian inflammatory disorder MONDO:0001174 conjunctival vascular disorder ICD10CM:H11.41 MONDO:equivalentTo Vascular abnormalities of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular abnormalities of conjunctiva MONDO:0001175 immature cataract ICD10CM:H25.09 MONDO:equivalentTo Other age-related incipient cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym water clefts MONDO:0001187 urinary bladder cancer ICD10CM:C67 MONDO:equivalentTo Malignant neoplasm of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of bladder MONDO:0001198 acquired thrombocytopenia ICD10CM:D69.5 MONDO:equivalentTo Secondary thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary thrombocytopenia -MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym common wart MONDO:0001209 common wart ICD10CM:B07 MONDO:equivalentTo Viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym verruca vulgaris MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common wart +MONDO:0001209 common wart ICD10CM:B07.8 MONDO:equivalentTo Other viral warts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym common wart MONDO:0001212 non-suppurative otitis media ICD10CM:H65 MONDO:equivalentTo Nonsuppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonsuppurative otitis media MONDO:0001213 serous glue ear ICD10CM:H65.2 MONDO:equivalentTo Chronic serous otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic serous otitis media MONDO:0001219 serous conjunctivitis except viral ICD10CM:H10.23 MONDO:equivalentTo Serous conjunctivitis, except viral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous conjunctivitis, except viral @@ -123,8 +123,8 @@ MONDO:0001243 disseminated intravascular coagulation ICD10CM:D65 MONDO:equivalen MONDO:0001246 typhus ICD10CM:A75 MONDO:equivalentTo Typhus fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label typhus fever MONDO:0001247 social phobia ICD10CM:F40.1 MONDO:equivalentTo Social phobias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym social anxiety disorder MONDO:0001249 trachoma ICD10CM:A71.0 MONDO:equivalentTo Initial stage of trachoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trachoma dubium -MONDO:0001262 African histoplasmosis ICD10CM:B39.5 MONDO:equivalentTo Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african histoplasmosis MONDO:0001262 African histoplasmosis ICD10CM:B39.5 MONDO:equivalentTo Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african histoplasmosis +MONDO:0001262 African histoplasmosis ICD10CM:B39.5 MONDO:equivalentTo Histoplasmosis duboisii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african histoplasmosis MONDO:0001268 gingival recession ICD10CM:K06.01 MONDO:equivalentTo Gingival recession, localized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession, localized MONDO:0001270 stone in bladder diverticulum ICD10CM:N21.0 MONDO:equivalentTo Calculus in bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calculus in diverticulum of bladder MONDO:0001271 lens subluxation ICD10CM:H27.11 MONDO:equivalentTo Subluxation of lens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subluxation of lens @@ -134,8 +134,8 @@ MONDO:0001294 Horner syndrome ICD10CM:G90.2 MONDO:equivalentTo Horner's syndrome MONDO:0001298 congenital mitral valve insufficiency ICD10CM:Q23.3 MONDO:equivalentTo Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital mitral insufficiency MONDO:0001317 phlyctenulosis ICD10CM:H16.25 MONDO:equivalentTo Phlyctenular keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phlyctenular keratoconjunctivitis MONDO:0001322 pericardium cancer ICD10CM:C38.0 MONDO:equivalentTo Malignant neoplasm of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of pericardium -MONDO:0001325 penile cancer ICD10CM:C60 MONDO:equivalentTo Malignant neoplasm of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of penis MONDO:0001325 penile cancer ICD10CM:C60.2 MONDO:equivalentTo Malignant neoplasm of body of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of penis +MONDO:0001325 penile cancer ICD10CM:C60 MONDO:equivalentTo Malignant neoplasm of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of penis MONDO:0001329 accommodative spasm ICD10CM:H52.53 MONDO:equivalentTo Spasm of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spasm of accommodation MONDO:0001335 hypotrichosis of eyelid ICD10CM:H02.72 MONDO:equivalentTo Madarosis of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypotrichosis of eyelid MONDO:0001340 heart cancer ICD10CM:C38.0 MONDO:equivalentTo Malignant neoplasm of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of heart @@ -144,20 +144,20 @@ MONDO:0001352 round ligament malignant neoplasm ICD10CM:C57.2 MONDO:equivalentTo MONDO:0001355 ocular siderosis ICD10CM:H44.32 MONDO:equivalentTo Siderosis of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label siderosis of eye MONDO:0001357 hypochromic anemia ICD10CM:D50 MONDO:equivalentTo Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochromic anemia MONDO:0001357 hypochromic anemia ICD10CM:D50 MONDO:equivalentTo Iron deficiency anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochromic anemia -MONDO:0001370 pericardial effusion ICD10CM:I31.3 MONDO:equivalentTo Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericardial effusion MONDO:0001370 pericardial effusion ICD10CM:I31.3 MONDO:equivalentTo Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pericardial effusion +MONDO:0001370 pericardial effusion ICD10CM:I31.3 MONDO:equivalentTo Pericardial effusion (noninflammatory) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pericardial effusion MONDO:0001377 vitreous syneresis ICD10CM:H43.81 MONDO:equivalentTo Vitreous degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitreous degeneration MONDO:0001378 urachus cancer ICD10CM:C67.7 MONDO:equivalentTo Malignant neoplasm of urachus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of urachus MONDO:0001388 glans penis cancer ICD10CM:C60.1 MONDO:equivalentTo Malignant neoplasm of glans penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of glans penis MONDO:0001398 ureter benign neoplasm ICD10CM:D30.2 MONDO:equivalentTo Benign neoplasm of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of ureter MONDO:0001402 vaginal cancer ICD10CM:C52 MONDO:equivalentTo Malignant neoplasm of vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of vagina -MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteopoikilosis MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopoikilosis +MONDO:0001414 osteopoikilosis ICD10CM:Q78.8 MONDO:equivalentTo Other specified osteochondrodysplasias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteopoikilosis MONDO:0001422 primary aldosteronism ICD10CM:E26.01 MONDO:equivalentTo Conn's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conns syndrome MONDO:0001429 transient arthropathy ICD10CM:M12.8 MONDO:equivalentTo Other specific arthropathies, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient arthropathy MONDO:0001430 deep corneal vascularisation ICD10CM:H16.44 MONDO:equivalentTo Deep vascularization of cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep vascularization of cornea -MONDO:0001438 postinflammatory pulmonary fibrosis ICD10CM:J84.10 MONDO:equivalentTo Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym postinflammatory pulmonary fibrosis MONDO:0001438 postinflammatory pulmonary fibrosis ICD10CM:J84.10 MONDO:equivalentTo Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postinflammatory pulmonary fibrosis +MONDO:0001438 postinflammatory pulmonary fibrosis ICD10CM:J84.10 MONDO:equivalentTo Pulmonary fibrosis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym postinflammatory pulmonary fibrosis MONDO:0001454 Blessig's cysts ICD10CM:H35.42 MONDO:equivalentTo Microcystoid degeneration of retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcystoid degeneration of retina MONDO:0001455 retinal lattice degeneration ICD10CM:H35.41 MONDO:equivalentTo Lattice degeneration of retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palisade degeneration of retina MONDO:0001456 cobblestone retinal degeneration ICD10CM:H35.43 MONDO:equivalentTo Paving stone degeneration of retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paving stone degeneration of retina @@ -168,10 +168,10 @@ MONDO:0001464 sigmoid colon cancer ICD10CM:C18.7 MONDO:equivalentTo Malignant ne MONDO:0001466 punctate epithelial keratoconjunctivitis ICD10CM:H16.14 MONDO:equivalentTo Punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label punctate keratitis MONDO:0001468 synovial plica syndrome ICD10CM:M67.5 MONDO:equivalentTo Plica syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plica syndrome MONDO:0001470 anal margin squamous cell carcinoma ICD10CM:C44.520 MONDO:equivalentTo Squamous cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym squamous cell carcinoma of anal margin -MONDO:0001474 chronic salpingo-oophoritis ICD10CM:N70.13 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic salpingitis and oophoritis MONDO:0001474 chronic salpingo-oophoritis ICD10CM:N70.1 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic salpingitis and oophoritis -MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of retained testis +MONDO:0001474 chronic salpingo-oophoritis ICD10CM:N70.13 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic salpingitis and oophoritis MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of undescended testis +MONDO:0001480 malignant tumor of undescended testis ICD10CM:C62.0 MONDO:equivalentTo Malignant neoplasm of undescended testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of retained testis MONDO:0001481 femoral vein thrombophlebitis ICD10CM:I80.1 MONDO:equivalentTo Phlebitis and thrombophlebitis of femoral vein semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phlebitis and thrombophlebitis of femoral vein MONDO:0001485 atypical depressive disorder ICD10CM:F32.89 MONDO:equivalentTo Other specified depressive episodes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical depression MONDO:0001488 anterior corneal pigmentation ICD10CM:H18.01 MONDO:equivalentTo Anterior corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anterior corneal pigmentations @@ -185,10 +185,10 @@ MONDO:0001552 dyscalculia ICD10CM:F81.2 MONDO:equivalentTo Mathematics disorder MONDO:0001555 neonatal thyrotoxicosis ICD10CM:P72.1 MONDO:equivalentTo Transitory neonatal hyperthyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal thyrotoxicosis MONDO:0001588 chronic lacrimal gland enlargement ICD10CM:H04.03 MONDO:equivalentTo Chronic enlargement of lacrimal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic enlargement of lacrimal gland MONDO:0001594 Achilles bursitis ICD10CM:M76.6 MONDO:equivalentTo Achilles tendinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achilles bursitis -MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland -MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidemic keratoconjunctivitis +MONDO:0001598 benign lymphoepithelial lesion of salivary gland ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign lymphoepithelial lesion of salivary gland MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shipyard eye +MONDO:0001615 epidemic keratoconjunctivitis ICD10CM:B30.0 MONDO:equivalentTo Keratoconjunctivitis due to adenovirus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidemic keratoconjunctivitis MONDO:0001653 prepuce cancer ICD10CM:C60.0 MONDO:equivalentTo Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of foreskin MONDO:0001653 prepuce cancer ICD10CM:C60.0 MONDO:equivalentTo Malignant neoplasm of prepuce semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prepuce MONDO:0001654 spermatic cord cancer ICD10CM:C63.1 MONDO:equivalentTo Malignant neoplasm of spermatic cord semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spermatic cord @@ -207,8 +207,8 @@ MONDO:0001720 gonococcal synovitis ICD10CM:A54.49 MONDO:equivalentTo Gonococcal MONDO:0001725 balanitis xerotica obliterans ICD10CM:N48.0 MONDO:equivalentTo Leukoplakia of penis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym balanitis xerotica obliterans MONDO:0001742 interval angle-closure glaucoma ICD10CM:H40.23 MONDO:equivalentTo Intermittent angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent angle-closure glaucoma MONDO:0001746 optic disk drusen ICD10CM:H47.32 MONDO:equivalentTo Drusen of optic disc semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drusen of optic disc -MONDO:0001748 maxillary sinus carcinoma ICD10CM:C31.0 MONDO:equivalentTo Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of antrum MONDO:0001748 maxillary sinus carcinoma ICD10CM:C31.0 MONDO:equivalentTo Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of maxillary sinus +MONDO:0001748 maxillary sinus carcinoma ICD10CM:C31.0 MONDO:equivalentTo Malignant neoplasm of maxillary sinus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of antrum MONDO:0001751 cholestasis ICD10CM:K83.1 MONDO:equivalentTo Obstruction of bile duct semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstruction of bile duct MONDO:0001752 alveolar periostitis ICD10CM:M27.3 MONDO:equivalentTo Alveolitis of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dry socket MONDO:0001761 favism ICD10CM:D55.0 MONDO:equivalentTo Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym favism @@ -231,17 +231,17 @@ MONDO:0001878 acquired hypertrophic pyloric stenosis ICD10CM:K31.1 MONDO:equival MONDO:0001887 Allen-Masters syndrome ICD10CM:N83.8 MONDO:equivalentTo Other noninflammatory disorders of ovary, fallopian tube and broad ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad ligament laceration syndrome MONDO:0001907 adult dermatomyositis ICD10CM:M33.1 MONDO:equivalentTo Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis MONDO:0001910 ochronosis disorder ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochronosis -MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic atticoantral suppurative otitis media MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic atticoantral disorder -MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis +MONDO:0001921 chronic atticoantral disease ICD10CM:H66.2 MONDO:equivalentTo Chronic atticoantral suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic atticoantral suppurative otitis media MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative cholangitis -MONDO:0001929 ascending cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ascending cholangitis +MONDO:0001928 suppurative cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative cholangitis MONDO:0001929 ascending cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ascending cholangitis +MONDO:0001929 ascending cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ascending cholangitis MONDO:0001935 neurogenic arthropathy ICD10CM:M14.6 MONDO:equivalentTo Charcôt's joint semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathic arthropathy MONDO:0001938 vulvar dystrophy ICD10CM:N90.4 MONDO:equivalentTo Leukoplakia of vulva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophy of vulva MONDO:0001945 postencephalitic Parkinson disease ICD10CM:G21.3 MONDO:equivalentTo Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism -MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym suppurative thyroiditis +MONDO:0001947 suppurative thyroiditis ICD10CM:E06.0 MONDO:equivalentTo Acute thyroiditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym suppurative thyroiditis MONDO:0001955 protozoal dysentery ICD10CM:A07.9 MONDO:equivalentTo Protozoal intestinal disease, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protozoal dysentery MONDO:0001966 chronic closed-angle glaucoma ICD10CM:H40.22 MONDO:equivalentTo Chronic angle-closure glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic angle-closure glaucoma MONDO:0001971 farmer's lung disease ICD10CM:J67.0 MONDO:equivalentTo Farmer's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farmers lung @@ -251,13 +251,13 @@ MONDO:0001984 candidal paronychia ICD10CM:B37.2 MONDO:equivalentTo Candidiasis o MONDO:0002033 cecum cancer ICD10CM:C18.0 MONDO:equivalentTo Malignant neoplasm of cecum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cecum MONDO:0002043 ectropion ICD10CM:H02.1 MONDO:equivalentTo Ectropion of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectropion of eyelid MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphadenitis -MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenitis MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphadenitis +MONDO:0002052 lymphadenitis ICD10CM:I88.1 MONDO:equivalentTo Chronic lymphadenitis, except mesenteric semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenitis MONDO:0002056 breast fibroadenoma ICD10CM:D24 MONDO:equivalentTo Benign neoplasm of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibroadenoma of breast -MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym richter syndrome -MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion +MONDO:0002083 Richter syndrome ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richter syndrome MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial retinal vein occlusion +MONDO:0002088 partial retinal vein occlusion ICD10CM:H34.82 MONDO:equivalentTo Venous engorgement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial retinal vein occlusion MONDO:0002108 thyroid cancer ICD10CM:C73 MONDO:equivalentTo Malignant neoplasm of thyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thyroid gland MONDO:0002109 pituitary cancer ICD10CM:C75.1 MONDO:equivalentTo Malignant neoplasm of pituitary gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pituitary gland MONDO:0002152 intermittent squint ICD10CM:H50.3 MONDO:equivalentTo Intermittent heterotropia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermittent heterotropia @@ -265,9 +265,9 @@ MONDO:0002158 fallopian tube cancer ICD10CM:C57.0 MONDO:equivalentTo Malignant n MONDO:0002158 fallopian tube cancer ICD10CM:C57.0 MONDO:equivalentTo Malignant neoplasm of fallopian tube semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of uterine tube MONDO:0002164 focal chorioretinitis ICD10CM:H30.0 MONDO:equivalentTo Focal chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym focal chorioretinitis MONDO:0002178 placenta cancer ICD10CM:C58 MONDO:equivalentTo Malignant neoplasm of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of placenta +MONDO:0002181 exostosis ICD10CM:M25.7 MONDO:equivalentTo Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte MONDO:0002181 exostosis ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exostosis MONDO:0002181 exostosis ICD10CM:M27.8 MONDO:equivalentTo Other specified diseases of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym exostosis -MONDO:0002181 exostosis ICD10CM:M25.7 MONDO:equivalentTo Osteophyte semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteophyte MONDO:0002185 hyperostosis ICD10CM:M89.3 MONDO:equivalentTo Hypertrophy of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophy of bone MONDO:0002212 pneumonic tularemia ICD10CM:A21.2 MONDO:equivalentTo Pulmonary tularemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary tularemia MONDO:0002238 ascending colon cancer ICD10CM:C18.2 MONDO:equivalentTo Malignant neoplasm of ascending colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ascending colon @@ -279,8 +279,8 @@ MONDO:0002290 clitoris cancer ICD10CM:C51.2 MONDO:equivalentTo Malignant neoplas MONDO:0002304 protein S deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym protein s deficiency MONDO:0002304 protein S deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein s deficiency MONDO:0002317 central nervous system origin vertigo ICD10CM:H81.4 MONDO:equivalentTo Vertigo of central origin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vertigo of central origin -MONDO:0002345 cervicitis ICD10CM:N72 MONDO:equivalentTo Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervicitis MONDO:0002345 cervicitis ICD10CM:N72 MONDO:equivalentTo Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervicitis +MONDO:0002345 cervicitis ICD10CM:N72 MONDO:equivalentTo Inflammatory disease of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervicitis MONDO:0002350 familial nephrotic syndrome ICD10CM:N04 MONDO:equivalentTo Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital nephrotic syndrome MONDO:0002351 glottis cancer ICD10CM:C32.0 MONDO:equivalentTo Malignant neoplasm of glottis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of glottis MONDO:0002352 larynx cancer ICD10CM:C32 MONDO:equivalentTo Malignant neoplasm of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of larynx @@ -298,10 +298,10 @@ MONDO:0002440 erythropoietin polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secon MONDO:0002443 bruxism ICD10CM:G47.63 MONDO:equivalentTo Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism MONDO:0002443 bruxism ICD10CM:F45.8 MONDO:equivalentTo Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding MONDO:0002457 Treacher-Collins syndrome ICD10CM:Q75.4 MONDO:equivalentTo Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome -MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis -MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis +MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis +MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis MONDO:0002492 acute kidney failure ICD10CM:N17.9 MONDO:equivalentTo Acute kidney failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute kidney injury MONDO:0002507 gingival overgrowth ICD10CM:K06.1 MONDO:equivalentTo Gingival enlargement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival enlargement MONDO:0002513 kidney benign neoplasm ICD10CM:D30.0 MONDO:equivalentTo Benign neoplasm of kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of kidney @@ -311,14 +311,14 @@ MONDO:0002691 liver cancer ICD10CM:C22.9 MONDO:equivalentTo Malignant neoplasm o MONDO:0002768 true hermaphroditism ICD10CM:Q56.0 MONDO:equivalentTo Hermaphroditism, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotestis MONDO:0002811 main bronchus cancer ICD10CM:C34.0 MONDO:equivalentTo Malignant neoplasm of main bronchus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of main bronchus MONDO:0002817 adrenal gland cancer ICD10CM:C74 MONDO:equivalentTo Malignant neoplasm of adrenal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of adrenal gland -MONDO:0002846 granulomatous gastritis ICD10CM:K29.6 MONDO:equivalentTo Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulomatous gastritis MONDO:0002846 granulomatous gastritis ICD10CM:K29.6 MONDO:equivalentTo Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous gastritis +MONDO:0002846 granulomatous gastritis ICD10CM:K29.6 MONDO:equivalentTo Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulomatous gastritis MONDO:0002889 orbital cancer ICD10CM:C69.6 MONDO:equivalentTo Malignant neoplasm of orbit semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of orbit MONDO:0002903 articulation disorder ICD10CM:F80.0 MONDO:equivalentTo Phonological disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phonological disorder MONDO:0002912 brainstem cancer ICD10CM:C71.7 MONDO:equivalentTo Malignant neoplasm of brain stem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of brain stem MONDO:0002929 pulmonary immaturity ICD10CM:P28.0 MONDO:equivalentTo Primary atelectasis of newborn semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary atelectasis of newborn -MONDO:0002940 anal margin basal cell carcinoma ICD10CM:C44.510 MONDO:equivalentTo Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of perianal skin MONDO:0002940 anal margin basal cell carcinoma ICD10CM:C44.510 MONDO:equivalentTo Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of anal margin +MONDO:0002940 anal margin basal cell carcinoma ICD10CM:C44.510 MONDO:equivalentTo Basal cell carcinoma of anal skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of perianal skin MONDO:0002965 parovarian cyst ICD10CM:Q50.5 MONDO:equivalentTo Embryonic cyst of broad ligament semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym parovarian cyst MONDO:0002965 parovarian cyst ICD10CM:Q50.5 MONDO:equivalentTo Embryonic cyst of broad ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parovarian cyst MONDO:0002967 dermatophytosis of scalp or beard ICD10CM:B35.0 MONDO:equivalentTo Tinea barbae and tinea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scalp ringworm @@ -331,8 +331,8 @@ MONDO:0003072 retinal cancer ICD10CM:C69.2 MONDO:equivalentTo Malignant neoplasm MONDO:0003210 intrahepatic cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrahepatic bile duct carcinoma MONDO:0003249 pineal gland cancer ICD10CM:C75.3 MONDO:equivalentTo Malignant neoplasm of pineal gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pineal gland MONDO:0003274 thoracic cancer ICD10CM:C76.1 MONDO:equivalentTo Malignant neoplasm of thorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of thorax -MONDO:0003275 middle ear cancer ICD10CM:C30-C39 MONDO:equivalentTo Malignant neoplasms of respiratory and intrathoracic organs (C30-C39) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of middle ear MONDO:0003275 middle ear cancer ICD10CM:C30.1 MONDO:equivalentTo Malignant neoplasm of middle ear semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of middle ear +MONDO:0003275 middle ear cancer ICD10CM:C30-C39 MONDO:equivalentTo Malignant neoplasms of respiratory and intrathoracic organs (C30-C39) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of middle ear MONDO:0003308 pleural mesothelioma ICD10CM:C45.0 MONDO:equivalentTo Mesothelioma of pleura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of pleura MONDO:0003454 conjunctival cancer ICD10CM:C69.0 MONDO:equivalentTo Malignant neoplasm of conjunctiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of conjunctiva MONDO:0003542 dental pulp calcification ICD10CM:K04.2 MONDO:equivalentTo Pulp degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulpal calcifications @@ -349,10 +349,9 @@ MONDO:0004038 dental enamel hypoplasia ICD10CM:K00.4 MONDO:equivalentTo Disturba MONDO:0004054 acute canaliculitis ICD10CM:H04.33 MONDO:equivalentTo Acute lacrimal canaliculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute lacrimal canaliculitis MONDO:0004151 spinal meninges cancer ICD10CM:C70.1 MONDO:equivalentTo Malignant neoplasm of spinal meninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of spinal meninges MONDO:0004177 benign urethral neoplasm ICD10CM:D30.4 MONDO:equivalentTo Benign neoplasm of urethra semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of urethra -MONDO:0004241 Osgood-Schlatter disease ICD10CM:M92.52 MONDO:equivalentTo Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osgood-schlatter disorder MONDO:0004241 Osgood-Schlatter disease ICD10CM:M92.52 MONDO:equivalentTo Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osgood-schlatter disorder +MONDO:0004241 Osgood-Schlatter disease ICD10CM:M92.52 MONDO:equivalentTo Juvenile osteochondrosis of tibia tubercle semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osgood-schlatter disorder MONDO:0004272 urinary bladder tuberculosis ICD10CM:A18.12 MONDO:equivalentTo Tuberculosis of bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of bladder -MONDO:0004375 end stage renal failure ICD10CM:N18.5 MONDO:equivalentTo Chronic kidney disease, stage 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic kidney disorder, stage type 5 MONDO:0004375 end stage renal failure ICD10CM:N18.6 MONDO:equivalentTo End stage renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label end stage renal disorder MONDO:0004390 ocular hypotension ICD10CM:H44.4 MONDO:equivalentTo Hypotony of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotony of eye MONDO:0004450 carotid artery occlusion ICD10CM:I65.2 MONDO:equivalentTo Occlusion and stenosis of carotid artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label occlusion and stenosis of carotid artery @@ -361,32 +360,32 @@ MONDO:0004497 tertiary syphilis ICD10CM:A52 MONDO:equivalentTo Late syphilis sem MONDO:0004522 peritonitis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retractile mesenteritis MONDO:0004549 cork-handlers' disease ICD10CM:J67.3 MONDO:equivalentTo Suberosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label suberosis MONDO:0004566 postgastrectomy syndrome ICD10CM:K91.1 MONDO:equivalentTo Postgastric surgery syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postgastrectomy syndrome +MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riboflavin deficiency MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ariboflavinosis -MONDO:0004573 ariboflavinosis ICD10CM:E53.0 MONDO:equivalentTo Riboflavin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b2 deficiency MONDO:0004582 rheumatic myocarditis ICD10CM:I01.2 MONDO:equivalentTo Acute rheumatic myocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute rheumatic myocarditis MONDO:0004582 rheumatic myocarditis ICD10CM:M05.3 MONDO:equivalentTo Rheumatoid heart disease with rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid myocarditis MONDO:0004584 maple bark strippers' lung ICD10CM:J67.6 MONDO:equivalentTo Maple-bark-stripper's lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolitis due to cryptostroma corticale MONDO:0004587 hereditary night blindness ICD10CM:H53.63 MONDO:equivalentTo Congenital night blindness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital night blindness MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD10CM:C81.4 MONDO:equivalentTo Lymphocyte-rich Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphocyte-rich classical hodgkin lymphoma +MONDO:0004608 oropharynx cancer ICD10CM:C10.3 MONDO:equivalentTo Malignant neoplasm of posterior wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of oropharynx MONDO:0004608 oropharynx cancer ICD10CM:C10.2 MONDO:equivalentTo Malignant neoplasm of lateral wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lateral wall of oropharynx MONDO:0004608 oropharynx cancer ICD10CM:C10.8 MONDO:equivalentTo Malignant neoplasm of overlapping sites of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of junctional region of oropharynx -MONDO:0004608 oropharynx cancer ICD10CM:C10.3 MONDO:equivalentTo Malignant neoplasm of posterior wall of oropharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of posterior wall of oropharynx MONDO:0004614 chronic monocytic leukemia ICD10CM:C93.1 MONDO:equivalentTo Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic monocytic leukemia MONDO:0004618 diplegia of upper limb ICD10CM:G83.0 MONDO:equivalentTo Diplegia of upper limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diplegia of upper limbs -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cellularity classical hodgkin lymphoma -MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym decubitus ulcer +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10CM:C81.2 MONDO:equivalentTo Mixed cellularity Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed cellularity hodgkin lymphoma MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pressure ulcer +MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym decubitus ulcer MONDO:0004646 decubitus ulcer ICD10CM:L89 MONDO:equivalentTo Pressure ulcer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym decubitus ulcer MONDO:0004652 bacterial pneumonia ICD10CM:J15.6 MONDO:equivalentTo Pneumonia due to other Gram-negative bacteria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to other gram-negative bacteria MONDO:0004657 disseminated chorioretinitis ICD10CM:H30.1 MONDO:equivalentTo Disseminated chorioretinal inflammation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated chorioretinitis MONDO:0004658 breast carcinoma in situ ICD10CM:D05 MONDO:equivalentTo Carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of breast MONDO:0004659 eye carcinoma in situ ICD10CM:D09.2 MONDO:equivalentTo Carcinoma in situ of eye semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of eye MONDO:0004662 heterophyiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heterophyiasis -MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma -MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nodular sclerosis hodgkin lymphoma +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma ICD10CM:C81.1 MONDO:equivalentTo Nodular sclerosis Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nodular sclerosis classical hodgkin lymphoma MONDO:0004666 metagonimiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metagonimiasis MONDO:0004667 sublingual gland cancer ICD10CM:C08.1 MONDO:equivalentTo Malignant neoplasm of sublingual gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of sublingual gland MONDO:0004671 penis carcinoma in situ ICD10CM:D07.4 MONDO:equivalentTo Carcinoma in situ of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma in situ of penis @@ -409,51 +408,51 @@ MONDO:0004845 aphthous stomatitis ICD10CM:K12.0 MONDO:equivalentTo Recurrent ora MONDO:0004846 placental abruption ICD10CM:O45 MONDO:equivalentTo Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature separation of placenta MONDO:0004846 placental abruption ICD10CM:O45 MONDO:equivalentTo Premature separation of placenta [abruptio placentae] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label premature separation of placenta MONDO:0004847 senile cataract ICD10CM:H25 MONDO:equivalentTo Age-related cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senile cataract -MONDO:0004848 ulcerative stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative stomatitis MONDO:0004848 ulcerative stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative stomatitis +MONDO:0004848 ulcerative stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative stomatitis MONDO:0004853 gonococcal endophthalmia ICD10CM:A54.39 MONDO:equivalentTo Other gonococcal eye infection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonococcal endophthalmia MONDO:0004862 vitreous abscess ICD10CM:H44.02 MONDO:equivalentTo Vitreous abscess (chronic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitreous abscess MONDO:0004871 perianal hematoma ICD10CM:K64.5 MONDO:equivalentTo Perianal venous thrombosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perianal hematoma MONDO:0004893 hypertropia ICD10CM:H50.2 MONDO:equivalentTo Vertical strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertropia MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm ICD10CM:I77.4 MONDO:equivalentTo Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome -MONDO:0004922 developmental coordination disorder ICD10CM:F82 MONDO:equivalentTo Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clumsy child syndrome MONDO:0004922 developmental coordination disorder ICD10CM:F82 MONDO:equivalentTo Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental dyspraxia MONDO:0004922 developmental coordination disorder ICD10CM:F82 MONDO:equivalentTo Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental coordination disorder +MONDO:0004922 developmental coordination disorder ICD10CM:F82 MONDO:equivalentTo Specific developmental disorder of motor function semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clumsy child syndrome MONDO:0004948 B-cell chronic lymphocytic leukemia ICD10CM:C91.1 MONDO:equivalentTo Chronic lymphocytic leukemia of B-cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphoplasmacytic leukemia MONDO:0004952 Hodgkins lymphoma ICD10CM:C81 MONDO:equivalentTo Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hodgkin lymphoma MONDO:0004967 acute lymphoblastic leukemia ICD10CM:C91.0 MONDO:equivalentTo Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia MONDO:0004969 acute quadriplegic myopathy ICD10CM:G72.81 MONDO:equivalentTo Critical illness myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute quadriplegic myopathy MONDO:0004975 Alzheimer disease ICD10CM:G30.8 MONDO:equivalentTo Other Alzheimer's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder -MONDO:0004980 atopic eczema ICD10CM:L20.81 MONDO:equivalentTo Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis MONDO:0004980 atopic eczema ICD10CM:L20 MONDO:equivalentTo Atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic dermatitis +MONDO:0004980 atopic eczema ICD10CM:L20.81 MONDO:equivalentTo Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis MONDO:0004980 atopic eczema ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besniers prurigo MONDO:0005002 chronic obstructive pulmonary disease ICD10CM:J44 MONDO:equivalentTo Other chronic obstructive pulmonary disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic obstructive pulmonary disorder MONDO:0005009 congestive heart failure ICD10CM:I50.9 MONDO:equivalentTo Heart failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congestive heart disorder -MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crohns disorder MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohns disorder MONDO:0005011 Crohn disease ICD10CM:K50.1 MONDO:equivalentTo Crohn's disease of large intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulomatous colitis +MONDO:0005011 Crohn disease ICD10CM:K50 MONDO:equivalentTo Crohn's disease [regional enteritis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crohns disorder MONDO:0005012 cutaneous melanoma ICD10CM:C43 MONDO:equivalentTo Malignant melanoma of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant melanoma of skin -MONDO:0005029 essential thrombocythemia ICD10CM:D47.3 MONDO:equivalentTo Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential thrombocytosis MONDO:0005029 essential thrombocythemia ICD10CM:D47.3 MONDO:equivalentTo Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary thrombocytosis +MONDO:0005029 essential thrombocythemia ICD10CM:D47.3 MONDO:equivalentTo Essential (hemorrhagic) thrombocythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential thrombocytosis MONDO:0005044 hypertensive disorder ICD10CM:I10 MONDO:equivalentTo Essential (primary) hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym high blood pressure MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.2 MONDO:equivalentTo Kaposi's sarcoma of palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of palate -MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.1 MONDO:equivalentTo Kaposi's sarcoma of soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of soft tissue MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.5 MONDO:equivalentTo Kaposi's sarcoma of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of lung +MONDO:0005055 Kaposi's sarcoma ICD10CM:C46.1 MONDO:equivalentTo Kaposi's sarcoma of soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposis sarcoma of soft tissue MONDO:0005077 pertussis ICD10CM:A37 MONDO:equivalentTo Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough MONDO:0005078 phyllodes tumor ICD10CM:D48.6 MONDO:equivalentTo Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes MONDO:0005081 preeclampsia ICD10CM:O14 MONDO:equivalentTo Pre-eclampsia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pre-eclampsia MONDO:0005100 systemic sclerosis ICD10CM:M34 MONDO:equivalentTo Systemic sclerosis [scleroderma] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis MONDO:0005100 systemic sclerosis ICD10CM:M34.0 MONDO:equivalentTo Progressive systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive systemic sclerosis MONDO:0005119 anthrax infection ICD10CM:A22 MONDO:equivalentTo Anthrax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anthrax +MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-traumatic stress disorder MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-traumatic stress disorder -MONDO:0005146 post-traumatic stress disorder ICD10CM:F43.1 MONDO:equivalentTo Post-traumatic stress disorder (PTSD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traumatic neurosis -MONDO:0005150 age-related macular degeneration ICD10CM:H35.30 MONDO:equivalentTo Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration MONDO:0005150 age-related macular degeneration ICD10CM:H35.30 MONDO:equivalentTo Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym age-related macular degeneration -MONDO:0005160 aortic aneurysm ICD10CM:I71.5 MONDO:equivalentTo Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured -MONDO:0005160 aortic aneurysm ICD10CM:I71.1 MONDO:equivalentTo Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured +MONDO:0005150 age-related macular degeneration ICD10CM:H35.30 MONDO:equivalentTo Unspecified macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym age-related macular degeneration MONDO:0005160 aortic aneurysm ICD10CM:I71.8 MONDO:equivalentTo Aortic aneurysm of unspecified site, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm of unspecified site, ruptured MONDO:0005160 aortic aneurysm ICD10CM:I71.3 MONDO:equivalentTo Abdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abdominal aortic aneurysm, ruptured +MONDO:0005160 aortic aneurysm ICD10CM:I71.1 MONDO:equivalentTo Thoracic aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracic aortic aneurysm, ruptured +MONDO:0005160 aortic aneurysm ICD10CM:I71.5 MONDO:equivalentTo Thoracoabdominal aortic aneurysm, ruptured semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thoracoabdominal aortic aneurysm, ruptured MONDO:0005180 Parkinson disease ICD10CM:G20 MONDO:equivalentTo Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkinsons disorder MONDO:0005180 Parkinson disease ICD10CM:G20 MONDO:equivalentTo Parkinson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paralysis agitans MONDO:0005187 human herpesvirus 8 infection ICD10CM:B10.89 MONDO:equivalentTo Other human herpesvirus infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus type 8 infection @@ -461,36 +460,36 @@ MONDO:0005187 human herpesvirus 8 infection ICD10CM:B10.89 MONDO:equivalentTo Ot MONDO:0005193 prostate intraepithelial neoplasia ICD10CM:N42.31 MONDO:equivalentTo Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pin MONDO:0005193 prostate intraepithelial neoplasia ICD10CM:N42.31 MONDO:equivalentTo Prostatic intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prostatic intraepithelial neoplasia MONDO:0005219 breast fibrocystic disease ICD10CM:N60 MONDO:equivalentTo Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic mastopathy -MONDO:0005219 breast fibrocystic disease ICD10CM:N60.1 MONDO:equivalentTo Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy MONDO:0005219 breast fibrocystic disease ICD10CM:N60.1 MONDO:equivalentTo Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic disorder of breast +MONDO:0005219 breast fibrocystic disease ICD10CM:N60.1 MONDO:equivalentTo Diffuse cystic mastopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cystic mastopathy MONDO:0005224 acute myeloblastic leukemia without maturation ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m1 MONDO:0005227 abscess ICD10CM:G06.1 MONDO:equivalentTo Intraspinal abscess and granuloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess MONDO:0005227 abscess ICD10CM:N34.0 MONDO:equivalentTo Urethral abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abscess MONDO:0005242 empyema ICD10CM:J86.9 MONDO:equivalentTo Pyothorax without fistula semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym empyema -MONDO:0005246 osteomyelitis ICD10CM:M27.2 MONDO:equivalentTo Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteomyelitis MONDO:0005246 osteomyelitis ICD10CM:M27.2 MONDO:equivalentTo Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteomyelitis -MONDO:0005258 autism spectrum disorder ICD10CM:F84 MONDO:equivalentTo Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders -MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder +MONDO:0005246 osteomyelitis ICD10CM:M27.2 MONDO:equivalentTo Inflammatory conditions of jaws semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteomyelitis MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder +MONDO:0005258 autism spectrum disorder ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder +MONDO:0005258 autism spectrum disorder ICD10CM:F84 MONDO:equivalentTo Pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pervasive developmental disorders MONDO:0005260 autism ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile autism MONDO:0005260 autism ICD10CM:F84.0 MONDO:equivalentTo Autistic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kanners syndrome MONDO:0005277 migraine disorder ICD10CM:G43 MONDO:equivalentTo Migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label migraine MONDO:0005293 flatfoot ICD10CM:M21.4 MONDO:equivalentTo Flat foot [pes planus] (acquired) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym flat foot MONDO:0005295 intermittent vascular claudication ICD10CM:I73.9 MONDO:equivalentTo Peripheral vascular disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intermittent claudication -MONDO:0005300 chronic kidney disease ICD10CM:N18 MONDO:equivalentTo Chronic kidney disease (CKD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic kidney disorder MONDO:0005300 chronic kidney disease ICD10CM:N18 MONDO:equivalentTo Chronic kidney disease (CKD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic kidney disorder +MONDO:0005300 chronic kidney disease ICD10CM:N18 MONDO:equivalentTo Chronic kidney disease (CKD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic kidney disorder MONDO:0005311 atherosclerosis ICD10CM:I25.1 MONDO:equivalentTo Atherosclerotic heart disease of native coronary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atherosclerotic cardiovascular disorder MONDO:0005324 seasonal allergic rhinitis ICD10CM:J30.1 MONDO:equivalentTo Allergic rhinitis due to pollen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hay fever MONDO:0005338 open-angle glaucoma ICD10CM:H40.13 MONDO:equivalentTo Pigmentary glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary glaucoma MONDO:0005348 keloid ICD10CM:L91.0 MONDO:equivalentTo Hypertrophic scar semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym keloid MONDO:0005357 Creutzfeldt Jacob disease ICD10CM:A81.09 MONDO:equivalentTo Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute spongiform encephalopathy MONDO:0005362 erectile dysfunction ICD10CM:F52.21 MONDO:equivalentTo Male erectile disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label male erectile disorder -MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteitis deformans MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis deformans +MONDO:0005382 bone Paget disease ICD10CM:M88 MONDO:equivalentTo Osteitis deformans [Paget's disease of bone] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteitis deformans MONDO:0005383 panic disorder ICD10CM:F41.0 MONDO:equivalentTo Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panic disorder +MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nonsuppurative destructive cholangitis MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary biliary cholangitis -MONDO:0005388 primary biliary cholangitis ICD10CM:K74.3 MONDO:equivalentTo Primary biliary cirrhosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary biliary cirrhosis MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome ICD10CM:G93.3 MONDO:equivalentTo Postviral fatigue syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postviral fatigue syndrome MONDO:0005406 gestational diabetes ICD10CM:O24.4 MONDO:equivalentTo Gestational diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational diabetes mellitus MONDO:0005411 gallbladder cancer ICD10CM:C23 MONDO:equivalentTo Malignant neoplasm of gallbladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gallbladder @@ -501,29 +500,29 @@ MONDO:0005464 rhegmatogenous retinal detachment ICD10CM:H33.0 MONDO:equivalentTo MONDO:0005468 hypotensive disorder ICD10CM:I95 MONDO:equivalentTo Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension MONDO:0005486 tooth agenesis ICD10CM:K00.0 MONDO:equivalentTo Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia MONDO:0005486 tooth agenesis ICD10CM:K00.0 MONDO:equivalentTo Anodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodontia -MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue fever +MONDO:0005502 dengue disease ICD10CM:A90 MONDO:equivalentTo Dengue fever [classical dengue] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever MONDO:0005507 gingival cancer ICD10CM:C03 MONDO:equivalentTo Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of gingiva MONDO:0005507 gingival cancer ICD10CM:C03 MONDO:equivalentTo Malignant neoplasm of gum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of gum MONDO:0005530 opiate dependence ICD10CM:F11.2 MONDO:equivalentTo Opioid dependence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opioid dependence MONDO:0005550 infectious disease ICD10CM:B99.8 MONDO:equivalentTo Other infectious disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious disorder MONDO:0005555 cycloplegia ICD10CM:H52.52 MONDO:equivalentTo Paresis of accommodation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paresis of accommodation MONDO:0005566 neonatal abstinence syndrome ICD10CM:P96.1 MONDO:equivalentTo Neonatal withdrawal symptoms from maternal use of drugs of addiction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal abstinence syndrome -MONDO:0005568 cholesterol embolism ICD10CM:I75 MONDO:equivalentTo Atheroembolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atheroembolism MONDO:0005568 cholesterol embolism ICD10CM:I75 MONDO:equivalentTo Atheroembolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesterol embolism +MONDO:0005568 cholesterol embolism ICD10CM:I75 MONDO:equivalentTo Atheroembolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atheroembolism MONDO:0005618 anxiety disorder ICD10CM:F41.1 MONDO:equivalentTo Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anxiety state MONDO:0005651 arenavirus hemorrhagic fever ICD10CM:A96 MONDO:equivalentTo Arenaviral hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arenaviral hemorrhagic fever -MONDO:0005659 atrophic rhinitis ICD10CM:J31.0 MONDO:equivalentTo Chronic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophic rhinitis MONDO:0005659 atrophic rhinitis ICD10CM:J31.0 MONDO:equivalentTo Chronic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ozena +MONDO:0005659 atrophic rhinitis ICD10CM:J31.0 MONDO:equivalentTo Chronic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrophic rhinitis MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym recrudescent typhus MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brill-zinsser disorder MONDO:0005680 Brill-Zinsser disease ICD10CM:A75.1 MONDO:equivalentTo Recrudescent typhus [Brill's disease] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recrudescent typhus MONDO:0005689 cannabis dependence ICD10CM:F12.1 MONDO:equivalentTo Cannabis abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cannabis abuse -MONDO:0005700 chickenpox ICD10CM:B01 MONDO:equivalentTo Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label varicella MONDO:0005700 chickenpox ICD10CM:B01 MONDO:equivalentTo Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym varicella +MONDO:0005700 chickenpox ICD10CM:B01 MONDO:equivalentTo Varicella [chickenpox] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label varicella +MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute nasopharyngitis MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute rhinitis -MONDO:0005709 common cold ICD10CM:J00 MONDO:equivalentTo Acute nasopharyngitis [common cold] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute nasopharyngitis MONDO:0005717 contagious pustular dermatitis ICD10CM:B08.02 MONDO:equivalentTo Orf virus disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym contagious pustular dermatitis MONDO:0005717 contagious pustular dermatitis ICD10CM:B08.02 MONDO:equivalentTo Orf virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ecthyma contagiosum MONDO:0005722 croup ICD10CM:J05.0 MONDO:equivalentTo Acute obstructive laryngitis [croup] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute obstructive laryngitis @@ -533,8 +532,8 @@ MONDO:0005737 Ebola hemorrhagic fever ICD10CM:A98.4 MONDO:equivalentTo Ebola vir MONDO:0005739 echinostomiasis ICD10CM:B66.8 MONDO:equivalentTo Other specified fluke infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym echinostomiasis MONDO:0005757 eumycotic mycetoma ICD10CM:B47.0 MONDO:equivalentTo Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maduromycosis MONDO:0005757 eumycotic mycetoma ICD10CM:B47.0 MONDO:equivalentTo Eumycetoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eumycetoma -MONDO:0005761 filarial elephantiasis ICD10CM:H02.85 MONDO:equivalentTo Elephantiasis of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label elephantiasis of eyelid MONDO:0005761 filarial elephantiasis ICD10CM:B74.0 MONDO:equivalentTo Filariasis due to Wuchereria bancrofti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bancroftian elephantiasis +MONDO:0005761 filarial elephantiasis ICD10CM:H02.85 MONDO:equivalentTo Elephantiasis of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label elephantiasis of eyelid MONDO:0005764 follicular dendritic cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular dendritic cell sarcoma MONDO:0005764 follicular dendritic cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym follicular dendritic cell sarcoma MONDO:0005768 gastrointestinal tuberculosis ICD10CM:A18.3 MONDO:equivalentTo Tuberculosis of intestines, peritoneum and mesenteric glands semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberculosis of intestines, peritoneum and mesenteric glands @@ -552,11 +551,11 @@ MONDO:0005829 louping ill ICD10CM:A84.89 MONDO:equivalentTo Other tick-borne vir MONDO:0005829 louping ill ICD10CM:A84.89 MONDO:equivalentTo Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym louping ill MONDO:0005831 lymph node tuberculosis ICD10CM:A18.2 MONDO:equivalentTo Tuberculous peripheral lymphadenopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous adenitis MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym climatic or tropical bubo -MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym durand-nicolas-favre disorder +MONDO:0005834 lymphogranuloma venereum ICD10CM:A55 MONDO:equivalentTo Chlamydial lymphogranuloma (venereum) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphogranuloma inguinale MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of inferior maxilla -MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of mandible +MONDO:0005837 mandibular cancer ICD10CM:C41.1 MONDO:equivalentTo Malignant neoplasm of mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of lower jaw bone MONDO:0005845 meningoencephalitis ICD10CM:A69.22 MONDO:equivalentTo Other neurologic disorders in Lyme disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis MONDO:0005845 meningoencephalitis ICD10CM:G04 MONDO:equivalentTo Encephalitis, myelitis and encephalomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalitis MONDO:0005846 microsporidiosis ICD10CM:B60.8 MONDO:equivalentTo Other specified protozoal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microsporidiosis @@ -565,11 +564,11 @@ MONDO:0005854 mixed connective tissue disease ICD10CM:M35.1 MONDO:equivalentTo O MONDO:0005864 muscle cancer ICD10CM:C49 MONDO:equivalentTo Malignant neoplasm of other connective and soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of muscle MONDO:0005866 mycobacterium avium complex disease ICD10CM:A31.0 MONDO:equivalentTo Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare MONDO:0005867 Mycoplasma pneumoniae pneumonia ICD10CM:J15.7 MONDO:equivalentTo Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae -MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis +MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis MONDO:0005890 osteitis fibrosa ICD10CM:E21.0 MONDO:equivalentTo Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteitis fibrosa cystica generalisata -MONDO:0005898 paronychia ICD10CM:L03.0 MONDO:equivalentTo Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paronychia MONDO:0005898 paronychia ICD10CM:L03.0 MONDO:equivalentTo Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paronychia +MONDO:0005898 paronychia ICD10CM:L03.0 MONDO:equivalentTo Cellulitis and acute lymphangitis of finger and toe semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paronychia MONDO:0005900 parotitis ICD10CM:K11.2 MONDO:equivalentTo Sialoadenitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym parotitis MONDO:0005903 pericardial tuberculosis ICD10CM:A18.84 MONDO:equivalentTo Tuberculosis of heart semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous pericarditis MONDO:0005918 placenta praevia ICD10CM:O44 MONDO:equivalentTo Placenta previa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label placenta previa @@ -585,8 +584,8 @@ MONDO:0005990 tracheitis ICD10CM:J04.2 MONDO:equivalentTo Acute laryngotracheiti MONDO:0005990 tracheitis ICD10CM:J42 MONDO:equivalentTo Unspecified chronic bronchitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic tracheitis MONDO:0006001 urinary schistosomiasis ICD10CM:B65.0 MONDO:equivalentTo Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosomiasis due to schistosoma haematobium MONDO:0006001 urinary schistosomiasis ICD10CM:B65.0 MONDO:equivalentTo Schistosomiasis due to Schistosoma haematobium [urinary schistosomiasis] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schistosomiasis due to schistosoma haematobium -MONDO:0006021 Prinzmetal angina ICD10CM:I20.1 MONDO:equivalentTo Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina MONDO:0006021 Prinzmetal angina ICD10CM:I20.1 MONDO:equivalentTo Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prinzmetal angina +MONDO:0006021 Prinzmetal angina ICD10CM:I20.1 MONDO:equivalentTo Angina pectoris with documented spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variant angina MONDO:0006022 acidosis disorder ICD10CM:E87.2 MONDO:equivalentTo Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis MONDO:0006031 chronic rhinosinusitis ICD10CM:J32 MONDO:equivalentTo Chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic sinusitis MONDO:0006040 lactic acidosis ICD10CM:E87.2 MONDO:equivalentTo Acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lactic acidosis @@ -602,10 +601,10 @@ MONDO:0006270 lobular breast carcinoma in situ ICD10CM:D05.0 MONDO:equivalentTo MONDO:0006314 nasal cavity polyp ICD10CM:J33.0 MONDO:equivalentTo Polyp of nasal cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyp of nasal cavity MONDO:0006314 nasal cavity polyp ICD10CM:J33 MONDO:equivalentTo Nasal polyp semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasal polyp MONDO:0006354 parathyroid hyperplasia ICD10CM:E21.0 MONDO:equivalentTo Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperplasia of parathyroid -MONDO:0006362 peritoneal mesothelioma ICD10CM:C45.1 MONDO:equivalentTo Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum MONDO:0006362 peritoneal mesothelioma ICD10CM:C45.1 MONDO:equivalentTo Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mesothelioma of peritoneum -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy +MONDO:0006362 peritoneal mesothelioma ICD10CM:C45.1 MONDO:equivalentTo Mesothelioma of peritoneum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesothelioma of peritoneum MONDO:0006412 sinus histiocytosis with massive lymphadenopathy ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy MONDO:0006519 rectal cancer ICD10CM:C20 MONDO:equivalentTo Malignant neoplasm of rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of rectum MONDO:0006540 dyshidrosis ICD10CM:L30.1 MONDO:equivalentTo Dyshidrosis [pompholyx] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyshidrosis MONDO:0006544 erythema infectiosum ICD10CM:B08.3 MONDO:equivalentTo Erythema infectiosum [fifth disease] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema infectiosum @@ -621,8 +620,8 @@ MONDO:0006608 seborrheic dermatitis ICD10CM:L21.0 MONDO:equivalentTo Seborrhea c MONDO:0006609 seborrheic infantile dermatitis ICD10CM:L21.0 MONDO:equivalentTo Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label seborrhea capitis MONDO:0006609 seborrheic infantile dermatitis ICD10CM:L21.0 MONDO:equivalentTo Seborrhea capitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cradle cap MONDO:0006613 stromal corneal pigmentation ICD10CM:H18.06 MONDO:equivalentTo Stromal corneal pigmentations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stromal corneal pigmentations -MONDO:0006614 subcorneal pustular dermatosis ICD10CM:L13.1 MONDO:equivalentTo Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subcorneal pustular dermatitis MONDO:0006614 subcorneal pustular dermatosis ICD10CM:L13.1 MONDO:equivalentTo Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sneddon-wilkinson disorder +MONDO:0006614 subcorneal pustular dermatosis ICD10CM:L13.1 MONDO:equivalentTo Subcorneal pustular dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subcorneal pustular dermatitis MONDO:0006637 acute kidney tubular necrosis ICD10CM:N17.0 MONDO:equivalentTo Acute kidney failure with tubular necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute tubular necrosis MONDO:0006649 anterior ischemic optic neuropathy ICD10CM:H47.01 MONDO:equivalentTo Ischemic optic neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ischemic optic neuropathy MONDO:0006653 anthracosilicosis ICD10CM:J60 MONDO:equivalentTo Coalworker's pneumoconiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anthracosilicosis @@ -638,8 +637,8 @@ MONDO:0006682 brachial plexus neuritis ICD10CM:G54.5 MONDO:equivalentTo Neuralgi MONDO:0006688 byssinosis ICD10CM:J66.1 MONDO:equivalentTo Flax-dressers' disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label flax-dressers' disorder MONDO:0006699 choledocholithiasis ICD10CM:K80.5 MONDO:equivalentTo Calculus of bile duct without cholangitis or cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choledocholithiasis MONDO:0006700 choroid cancer ICD10CM:C69.3 MONDO:equivalentTo Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of choroid -MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radial styloid tenosynovitis +MONDO:0006721 de Quervain disease ICD10CM:M65.4 MONDO:equivalentTo Radial styloid tenosynovitis [de Quervain] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label radial styloid tenosynovitis MONDO:0006723 denture stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym denture stomatitis MONDO:0006734 benign duodenal neoplasm ICD10CM:D13.2 MONDO:equivalentTo Benign neoplasm of duodenum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign neoplasm of duodenum MONDO:0006744 endolymphatic hydrops ICD10CM:H81.0 MONDO:equivalentTo Ménière's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym labyrinthine hydrops @@ -653,9 +652,9 @@ MONDO:0006807 intestinal perforation ICD10CM:K63.1 MONDO:equivalentTo Perforatio MONDO:0006815 jejunal cancer ICD10CM:C17.1 MONDO:equivalentTo Malignant neoplasm of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of jejunum MONDO:0006820 kidney cortex necrosis ICD10CM:N17.1 MONDO:equivalentTo Acute kidney failure with acute cortical necrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cortical necrosis MONDO:0006827 lateral medullary syndrome ICD10CM:G46.3 MONDO:equivalentTo Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wallenberg syndrome +MONDO:0006834 lip cancer ICD10CM:C00.4 MONDO:equivalentTo Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect MONDO:0006834 lip cancer ICD10CM:C00.9 MONDO:equivalentTo Malignant neoplasm of lip, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified MONDO:0006834 lip cancer ICD10CM:C00.5 MONDO:equivalentTo Malignant neoplasm of lip, unspecified, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lip, unspecified, inner aspect -MONDO:0006834 lip cancer ICD10CM:C00.4 MONDO:equivalentTo Malignant neoplasm of lower lip, inner aspect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of lower lip, inner aspect MONDO:0006835 lipoid nephrosis ICD10CM:N04 MONDO:equivalentTo Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoid nephrosis MONDO:0006835 lipoid nephrosis ICD10CM:N04 MONDO:equivalentTo Nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoid nephrosis MONDO:0006840 lymphangiectasis ICD10CM:I89.0 MONDO:equivalentTo Lymphedema, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangiectasis @@ -682,22 +681,22 @@ MONDO:0006966 secondary Parkinson disease ICD10CM:G21 MONDO:equivalentTo Seconda MONDO:0006966 secondary Parkinson disease ICD10CM:G21.9 MONDO:equivalentTo Secondary parkinsonism, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secondary parkinsonism, unspecified MONDO:0006969 sialadenitis ICD10CM:K11.2 MONDO:equivalentTo Sialoadenitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sialoadenitis MONDO:0006981 subacute bacterial endocarditis ICD10CM:I33.0 MONDO:equivalentTo Acute and subacute infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocarditis lenta -MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of ureter MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ureteric stone -MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever +MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of ureter MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uveoparotid fever +MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever MONDO:0007017 vitreous detachment ICD10CM:H43.81 MONDO:equivalentTo Vitreous degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitreous detachment MONDO:0007027 non-alcoholic steatohepatitis ICD10CM:K75.81 MONDO:equivalentTo Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis MONDO:0007099 familial visceral amyloidosis ICD10CM:E85.0 MONDO:equivalentTo Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy -MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis -MONDO:0007145 aplasia cutis congenita ICD10CM:Q84.8 MONDO:equivalentTo Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita +MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007145 aplasia cutis congenita ICD10CM:Q84.8 MONDO:equivalentTo Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia cutis congenita +MONDO:0007145 aplasia cutis congenita ICD10CM:Q84.8 MONDO:equivalentTo Other specified congenital malformations of integument semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplasia cutis congenita MONDO:0007174 Lown-Ganong-Levine syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lown-ganong-levine syndrome MONDO:0007174 Lown-Ganong-Levine syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lown-ganong-levine syndrome -MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatocellular carcinoma MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatocellular carcinoma +MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoma MONDO:0007256 hepatocellular carcinoma ICD10CM:C22.0 MONDO:equivalentTo Liver cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label liver cell carcinoma MONDO:0007294 central core myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central core disorder MONDO:0007303 cervical rib disease ICD10CM:Q76.5 MONDO:equivalentTo Cervical rib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical rib @@ -708,16 +707,16 @@ MONDO:0007340 cleidocranial dysplasia ICD10CM:Q74.0 MONDO:equivalentTo Other con MONDO:0007342 clubfoot ICD10CM:Q66.0 MONDO:equivalentTo Congenital talipes equinovarus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital talipes equinovarus MONDO:0007369 hereditary coproporphyria ICD10CM:E80.29 MONDO:equivalentTo Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary coproporphyria MONDO:0007369 hereditary coproporphyria ICD10CM:E80.29 MONDO:equivalentTo Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary coproporphyria -MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri-du-chat syndrome +MONDO:0007404 Cri-du-chat syndrome ICD10CM:Q93.4 MONDO:equivalentTo Deletion of short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cri-du-chat syndrome MONDO:0007405 Crouzon syndrome ICD10CM:Q75.1 MONDO:equivalentTo Craniofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial dysostosis MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential cryoglobulinemia MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cryoglobulinemic vasculitis -MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary cryoglobulinemia +MONDO:0007407 Cryoglobulinemic vasculitis ICD10CM:D89.1 MONDO:equivalentTo Cryoglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed cryoglobulinemia MONDO:0007417 Darier disease ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis follicularis -MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dens evaginatus +MONDO:0007430 dens evaginatus ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dens evaginatus MONDO:0007473 Duane retraction syndrome ICD10CM:H50.81 MONDO:equivalentTo Duane's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duanes syndrome MONDO:0007492 early-onset generalized limb-onset dystonia ICD10CM:G24.1 MONDO:equivalentTo Genetic torsion dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0007534 Beckwith-Wiedemann syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beckwith-wiedemann syndrome @@ -731,33 +730,33 @@ MONDO:0007572 primary familial polycythemia due to EPO receptor mutation ICD10CM MONDO:0007576 esophageal cancer ICD10CM:C15 MONDO:equivalentTo Malignant neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of esophagus MONDO:0007603 Felty syndrome ICD10CM:M05.0 MONDO:equivalentTo Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatoid arthritis with splenoadenomegaly and leukopenia MONDO:0007603 Felty syndrome ICD10CM:M05.0 MONDO:equivalentTo Felty's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label feltys syndrome -MONDO:0007606 fibrodysplasia ossificans progressiva ICD10CM:M61.1 MONDO:equivalentTo Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva ICD10CM:M61.1 MONDO:equivalentTo Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibrodysplasia ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva ICD10CM:M61.1 MONDO:equivalentTo Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0007639 fundus albipunctatus ICD10CM:H35.52 MONDO:equivalentTo Pigmentary retinal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentary retinal dystrophy MONDO:0007650 MALT lymphoma ICD10CM:C88.4 MONDO:equivalentTo Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue MONDO:0007650 MALT lymphoma ICD10CM:C88.4 MONDO:equivalentTo Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue MONDO:0007652 gastric mucosal hypertrophy ICD10CM:K29.6 MONDO:equivalentTo Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis MONDO:0007661 Tourette syndrome ICD10CM:F95.2 MONDO:equivalentTo Tourette's disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tourettes syndrome MONDO:0007686 gray platelet syndrome ICD10CM:D69.1 MONDO:equivalentTo Qualitative platelet defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym grey platelet syndrome -MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holt-oram syndrome MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holt-oram syndrome MONDO:0007739 Huntington disease ICD10CM:G10 MONDO:equivalentTo Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huntingtons disorder MONDO:0007739 Huntington disease ICD10CM:G10 MONDO:equivalentTo Huntington's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym huntingtons chorea -MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperheparinemia -MONDO:0007769 hyperpigmentation of eyelid ICD10CM:H02.71 MONDO:equivalentTo Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid +MONDO:0007752 hyperheparinemia ICD10CM:D68.32 MONDO:equivalentTo Hemorrhagic disorder due to extrinsic circulating anticoagulants semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperheparinemia MONDO:0007769 hyperpigmentation of eyelid ICD10CM:H02.71 MONDO:equivalentTo Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperpigmentation of eyelid -MONDO:0007793 hypochondroplasia ICD10CM:Q77.4 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia +MONDO:0007769 hyperpigmentation of eyelid ICD10CM:H02.71 MONDO:equivalentTo Chloasma of eyelid and periocular area semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyspigmentation of eyelid MONDO:0007793 hypochondroplasia ICD10CM:Q77.4 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondroplasia +MONDO:0007793 hypochondroplasia ICD10CM:Q77.4 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypochondroplasia MONDO:0007827 inclusion body myositis ICD10CM:G72.41 MONDO:equivalentTo Inclusion body myositis [IBM] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis -MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kleine-levin syndrome MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kleine-levin syndrome +MONDO:0007863 Kleine-Levin syndrome ICD10CM:G47.13 MONDO:equivalentTo Recurrent hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kleine-levin syndrome MONDO:0007864 angioosteohypertrophic syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-trenaunay-weber syndrome MONDO:0007869 Kyrle disease ICD10CM:L87.0 MONDO:equivalentTo Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kyrle disorder MONDO:0007869 Kyrle disease ICD10CM:L87.0 MONDO:equivalentTo Keratosis follicularis et parafollicularis in cutem penetrans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kyrle disorder +MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91 MONDO:equivalentTo Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91.2 MONDO:equivalentTo Coxa plana semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coxa plana MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91.3 MONDO:equivalentTo Pseudocoxalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudocoxalgia -MONDO:0007885 Legg-Calve-Perthes disease ICD10CM:M91 MONDO:equivalentTo Juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of hip and pelvis MONDO:0007886 uterine corpus leiomyoma ICD10CM:D25 MONDO:equivalentTo Leiomyoma of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine fibroid MONDO:0007896 acute monocytic leukemia ICD10CM:C93.0 MONDO:equivalentTo Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 MONDO:0007915 systemic lupus erythematosus ICD10CM:M32 MONDO:equivalentTo Systemic lupus erythematosus (SLE) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic lupus erythematosus @@ -769,16 +768,16 @@ MONDO:0007946 jaw-winking syndrome ICD10CM:Q07.8 MONDO:equivalentTo Other specif MONDO:0007947 Marfan syndrome ICD10CM:Q87.4 MONDO:equivalentTo Marfan's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfans syndrome MONDO:0007955 Meckel diverticulum ICD10CM:Q43.0 MONDO:equivalentTo Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckels diverticulum MONDO:0007955 Meckel diverticulum ICD10CM:Q43.0 MONDO:equivalentTo Meckel's diverticulum (displaced) (hypertrophic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent vitelline duct +MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkerssons syndrome MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melkersson-rosenthal syndrome -MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome MONDO:0007972 Meniere disease ICD10CM:H81.39 MONDO:equivalentTo Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo MONDO:0008007 tooth ankylosis ICD10CM:K03.5 MONDO:equivalentTo Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth MONDO:0008009 monilethrix ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix MONDO:0008009 monilethrix ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monilethrix MONDO:0008039 tropical spastic paraparesis ICD10CM:G04.1 MONDO:equivalentTo Tropical spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tropical spastic paraplegia -MONDO:0008048 autosomal dominant centronuclear myopathy ICD10CM:G71.228 MONDO:equivalentTo Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy MONDO:0008048 autosomal dominant centronuclear myopathy ICD10CM:G71.228 MONDO:equivalentTo Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant centronuclear myopathy +MONDO:0008048 autosomal dominant centronuclear myopathy ICD10CM:G71.228 MONDO:equivalentTo Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy MONDO:0008056 myotonic dystrophy type 1 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophia myotonica MONDO:0008056 myotonic dystrophy type 1 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disorder MONDO:0008061 nail-patella syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nail patella syndrome @@ -798,33 +797,33 @@ MONDO:0008224 hyperkalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo P MONDO:0008224 hyperkalemic periodic paralysis ICD10CM:G72.3 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperkalemic periodic paralysis MONDO:0008228 pernicious anemia ICD10CM:D51.0 MONDO:equivalentTo Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biermer anemia MONDO:0008231 Peyronie disease ICD10CM:N48.6 MONDO:equivalentTo Induration penis plastica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peyronies disorder -MONDO:0008244 piebaldism ICD10CM:E70.39 MONDO:equivalentTo Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism MONDO:0008244 piebaldism ICD10CM:E70.39 MONDO:equivalentTo Other specified albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym piebaldism -MONDO:0008262 Poland syndrome ICD10CM:Q79.8 MONDO:equivalentTo Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poland syndrome +MONDO:0008244 piebaldism ICD10CM:E70.39 MONDO:equivalentTo Other specified albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym piebaldism MONDO:0008262 Poland syndrome ICD10CM:Q79.8 MONDO:equivalentTo Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym poland syndrome +MONDO:0008262 Poland syndrome ICD10CM:Q79.8 MONDO:equivalentTo Other congenital malformations of musculoskeletal system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poland syndrome MONDO:0008280 Peutz-Jeghers syndrome ICD10CM:Q85.8 MONDO:equivalentTo Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peutz-jeghers syndrome MONDO:0008280 Peutz-Jeghers syndrome ICD10CM:Q85.8 MONDO:equivalentTo Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peutz-jeghers syndrome MONDO:0008315 prostate cancer ICD10CM:C61 MONDO:equivalentTo Malignant neoplasm of prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of prostate MONDO:0008340 ptosis, hereditary congenital, 1 ICD10CM:Q10.0 MONDO:equivalentTo Congenital ptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ptosis MONDO:0008346 pulmonary hemosiderosis ICD10CM:J84.03 MONDO:equivalentTo Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary hemosiderosis -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic eruption of pregnancy +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy ICD10CM:O26.86 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy (PUPPP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pruritic urticarial papules and plaques of pregnancy MONDO:0008354 purpura simplex ICD10CM:D69.2 MONDO:equivalentTo Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura simplex MONDO:0008354 purpura simplex ICD10CM:D69.2 MONDO:equivalentTo Other nonthrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym purpura simplex MONDO:0008388 ringed hair disease ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili annulati -MONDO:0008392 Roussy-Levy syndrome ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roussy-levy syndrome MONDO:0008392 Roussy-Levy syndrome ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roussy-levy syndrome +MONDO:0008392 Roussy-Levy syndrome ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roussy-levy syndrome MONDO:0008394 Silver-Russell syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome -MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scheuermanns disorder MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile osteochondrosis of spine -MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smith-magenis syndrome +MONDO:0008410 Scheuermann disease ICD10CM:M42.0 MONDO:equivalentTo Juvenile osteochondrosis of spine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scheuermanns disorder MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smith-magenis syndrome MONDO:0008485 sebocystomatosis ICD10CM:L72.2 MONDO:equivalentTo Steatocystoma multiplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label steatocystoma multiplex MONDO:0008487 polycystic ovary syndrome ICD10CM:E28.2 MONDO:equivalentTo Polycystic ovarian syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stein-leventhal syndrome MONDO:0008491 stiff-person syndrome ICD10CM:G25.82 MONDO:equivalentTo Stiff-man syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stiff-man syndrome -MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blau syndrome MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blau syndrome +MONDO:0008523 Blau syndrome ICD10CM:M04.8 MONDO:equivalentTo Other autoinflammatory syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blau syndrome MONDO:0008541 spermatic cord torsion ICD10CM:N44.0 MONDO:equivalentTo Torsion of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torsion of testis MONDO:0008558 autoimmune thrombocytopenic purpura ICD10CM:D69.3 MONDO:equivalentTo Immune thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic thrombocytopenic purpura MONDO:0008564 DiGeorge syndrome ICD10CM:D82.1 MONDO:equivalentTo Di George's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngeal pouch syndrome @@ -833,9 +832,9 @@ MONDO:0008610 blue color blindness ICD10CM:H53.55 MONDO:equivalentTo Tritanomaly MONDO:0008633 Muckle-Wells syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym muckle-wells syndrome MONDO:0008667 von Hippel-Lindau disease ICD10CM:Q85.8 MONDO:equivalentTo Other phakomatoses, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von hippel-lindau syndrome -MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome -MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anomalous atrioventricular excitation MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolff-parkinson-white syndrome +MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anomalous atrioventricular excitation +MONDO:0008685 Wolff-Parkinson-white syndrome ICD10CM:I45.6 MONDO:equivalentTo Pre-excitation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolff-parkinson-white syndrome MONDO:0008692 abetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abetalipoproteinemia MONDO:0008692 abetalipoproteinemia ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym abetalipoproteinemia MONDO:0008698 achalasia ICD10CM:K22.0 MONDO:equivalentTo Achalasia of cardia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiospasm @@ -845,16 +844,16 @@ MONDO:0008713 acrodermatitis enteropathica ICD10CM:E83.2 MONDO:equivalentTo Diso MONDO:0008713 acrodermatitis enteropathica ICD10CM:E83.2 MONDO:equivalentTo Disorders of zinc metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrodermatitis enteropathica MONDO:0008737 congenital afibrinogenemia ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital afibrinogenemia MONDO:0008740 agnathia-otocephaly complex ICD10CM:Q18.2 MONDO:equivalentTo Other branchial cleft malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otocephaly -MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkaptonuria +MONDO:0008753 alkaptonuria ICD10CM:E70.29 MONDO:equivalentTo Other disorders of tyrosine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkaptonuria MONDO:0008758 mitochondrial DNA depletion syndrome 4a ICD10CM:G31.81 MONDO:equivalentTo Alpers disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers disorder MONDO:0008783 Tangier disease ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tangier disorder MONDO:0008783 Tangier disease ICD10CM:E78.6 MONDO:equivalentTo Lipoprotein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tangier disorder MONDO:0008813 arachnoid cyst ICD10CM:G93.0 MONDO:equivalentTo Cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arachnoid cyst MONDO:0008814 hyperargininemia ICD10CM:E72.21 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argininemia MONDO:0008829 chylous ascites ICD10CM:I89.8 MONDO:equivalentTo Other specified noninfective disorders of lymphatic vessels and lymph nodes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylous ascites -MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aspartylglucosaminuria +MONDO:0008830 aspartylglucosaminuria ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aspartylglucosaminuria MONDO:0008840 ataxia telangiectasia ICD10CM:G11.3 MONDO:equivalentTo Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia telangiectasia MONDO:0008840 ataxia telangiectasia ICD10CM:G11.3 MONDO:equivalentTo Cerebellar ataxia with defective DNA repair semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxia telangiectasia MONDO:0008867 biliary atresia ICD10CM:Q44.2 MONDO:equivalentTo Atresia of bile ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of bile ducts @@ -865,28 +864,28 @@ MONDO:0008982 central areolar choroidal dystrophy ICD10CM:H31.22 MONDO:equivalen MONDO:0009009 hypoplasminogenemia ICD10CM:E88.02 MONDO:equivalentTo Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoplasminogenemia MONDO:0009009 hypoplasminogenemia ICD10CM:E88.02 MONDO:equivalentTo Plasminogen deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoplasminogenemia MONDO:0009022 corpus callosum, agenesis of ICD10CM:Q04.0 MONDO:equivalentTo Congenital malformations of corpus callosum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of corpus callosum -MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystathioninuria +MONDO:0009058 cystathioninuria ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystathioninuria MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dandy-walker syndrome MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dandy-walker syndrome MONDO:0009072 Dandy-Walker syndrome ICD10CM:Q03.1 MONDO:equivalentTo Atresia of foramina of Magendie and Luschka semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atresia of foramina of magendie and luschka MONDO:0009114 congenital sucrase-isomaltase deficiency ICD10CM:E74.31 MONDO:equivalentTo Sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sucrase-isomaltase deficiency -MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubowitz syndrome MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubowitz syndrome -MONDO:0009131 Riley-Day syndrome ICD10CM:G90.1 MONDO:equivalentTo Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia +MONDO:0009124 Dubowitz syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubowitz syndrome MONDO:0009131 Riley-Day syndrome ICD10CM:G90.1 MONDO:equivalentTo Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dysautonomia +MONDO:0009131 Riley-Day syndrome ICD10CM:G90.1 MONDO:equivalentTo Familial dysautonomia [Riley-Day] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia MONDO:0009144 Ebstein anomaly ICD10CM:Q22.5 MONDO:equivalentTo Ebstein's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ebsteins anomaly -MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondroectodermal dysplasia MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome ICD10CM:Q77.6 MONDO:equivalentTo Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ellis-van creveld syndrome MONDO:0009182 junctional epidermolysis bullosa Herlitz type ICD10CM:Q81.1 MONDO:equivalentTo Epidermolysis bullosa letalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa letalis MONDO:0009197 transient erythroblastopenia of childhood ICD10CM:D60.1 MONDO:equivalentTo Transient acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient acquired pure red cell aplasia MONDO:0009210 congenital factor V deficiency ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proaccelerin deficiency MONDO:0009211 congenital factor VII deficiency ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproconvertinemia -MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fucosidosis MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fucosidosis -MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency +MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprotein degradation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fucosidosis MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency +MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency MONDO:0009275 neonatal hemochromatosis ICD10CM:P78.84 MONDO:equivalentTo Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis MONDO:0009290 glycogen storage disease II ICD10CM:E74.02 MONDO:equivalentTo Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disorder MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disorder @@ -894,23 +893,23 @@ MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cor MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency ICD10CM:E74.09 MONDO:equivalentTo Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andersen disorder MONDO:0009293 glycogen storage disease V ICD10CM:E74.04 MONDO:equivalentTo McArdle disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcardle disorder MONDO:0009294 glycogen storage disease VI ICD10CM:E74.09 MONDO:equivalentTo Other glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disorder -MONDO:0009319 pantothenate kinase-associated neurodegeneration ICD10CM:G23.0 MONDO:equivalentTo Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hallervorden-spatz disorder MONDO:0009319 pantothenate kinase-associated neurodegeneration ICD10CM:G23.0 MONDO:equivalentTo Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmentary pallidal degeneration -MONDO:0009380 Dubin-Johnson syndrome ICD10CM:E80.6 MONDO:equivalentTo Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubin-johnson syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration ICD10CM:G23.0 MONDO:equivalentTo Hallervorden-Spatz disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hallervorden-spatz disorder MONDO:0009380 Dubin-Johnson syndrome ICD10CM:E80.6 MONDO:equivalentTo Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dubin-johnson syndrome +MONDO:0009380 Dubin-Johnson syndrome ICD10CM:E80.6 MONDO:equivalentTo Other disorders of bilirubin metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dubin-johnson syndrome MONDO:0009385 hyperleucine-Isoleucinemia ICD10CM:E71.19 MONDO:equivalentTo Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperleucine-isoleucinemia MONDO:0009385 hyperleucine-Isoleucinemia ICD10CM:E71.19 MONDO:equivalentTo Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperleucine-isoleucinemia MONDO:0009387 familial lipoprotein lipase deficiency ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed hyperglyceridemia MONDO:0009387 familial lipoprotein lipase deficiency ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperchylomicronemia -MONDO:0009388 hyperlysinemia ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlysinemia MONDO:0009388 hyperlysinemia ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlysinemia +MONDO:0009388 hyperlysinemia ICD10CM:E72.3 MONDO:equivalentTo Disorders of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlysinemia MONDO:0009451 Nezelof syndrome ICD10CM:D81.4 MONDO:equivalentTo Nezelof's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nezelofs syndrome MONDO:0009468 pseudotumor cerebri ICD10CM:G93.2 MONDO:equivalentTo Benign intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign intracranial hypertension MONDO:0009476 atresia of small intestine ICD10CM:Q41.1 MONDO:equivalentTo Congenital absence, atresia and stenosis of jejunum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apple peel syndrome -MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landau-kleffner syndrome -MONDO:0009519 letterer-Siwe disease ICD10CM:C96.0 MONDO:equivalentTo Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym letterer-siwe disorder +MONDO:0009509 Landau-Kleffner syndrome ICD10CM:G40.8 MONDO:equivalentTo Other epilepsy and recurrent seizures semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym landau-kleffner syndrome MONDO:0009519 letterer-Siwe disease ICD10CM:C96.0 MONDO:equivalentTo Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym letterer-siwe disorder +MONDO:0009519 letterer-Siwe disease ICD10CM:C96.0 MONDO:equivalentTo Multifocal and multisystemic (disseminated) Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym letterer-siwe disorder MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chylomicron retention disorder MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disorder MONDO:0009532 Miller-Dieker lissencephaly syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome @@ -918,56 +917,56 @@ MONDO:0009650 mucolipidosis type II ICD10CM:E77.0 MONDO:equivalentTo Defects in MONDO:0009659 mucopolysaccharidosis type 4A ICD10CM:E76.210 MONDO:equivalentTo Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a MONDO:0009660 mucopolysaccharidosis type 4B ICD10CM:E76.211 MONDO:equivalentTo Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b MONDO:0009662 mucopolysaccharidosis type 7 ICD10CM:E76.29 MONDO:equivalentTo Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency -MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holocarboxylase synthetase deficiency -MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis +MONDO:0009666 holocarboxylase synthetase deficiency ICD10CM:D81.818 MONDO:equivalentTo Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holocarboxylase synthetase deficiency MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteomyelofibrosis +MONDO:0009692 primary myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic myelofibrosis MONDO:0009696 juvenile myoclonic epilepsy ICD10CM:G40.B MONDO:equivalentTo Juvenile myoclonic epilepsy [impulsive petit mal] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy MONDO:0009717 Schwartz-Jampel syndrome ICD10CM:G71.13 MONDO:equivalentTo Myotonic chondrodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotonic chondrodystrophy MONDO:0009723 Leigh syndrome ICD10CM:G31.82 MONDO:equivalentTo Leigh's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leighs disorder MONDO:0009755 neutrophil actin dysfunction ICD10CM:D22 MONDO:equivalentTo Melanocytic nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical nevus MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type ICD10CM:E70.328 MONDO:equivalentTo Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cross syndrome MONDO:0009813 chronic recurrent multifocal osteomyelitis ICD10CM:M86.3 MONDO:equivalentTo Chronic multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic multifocal osteomyelitis +MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.2 MONDO:equivalentTo Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25 MONDO:equivalentTo Malignant neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.0 MONDO:equivalentTo Malignant neoplasm of head of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of head of pancreas -MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.2 MONDO:equivalentTo Malignant neoplasm of tail of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of tail of pancreas MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.1 MONDO:equivalentTo Malignant neoplasm of body of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of body of pancreas MONDO:0009846 pentosuria ICD10CM:E74.89 MONDO:equivalentTo Other specified disorders of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential pentosuria MONDO:0009852 hereditary intrinsic factor deficiency ICD10CM:D51.0 MONDO:equivalentTo Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency MONDO:0009887 desquamative interstitial pneumonia ICD10CM:J84.115 MONDO:equivalentTo Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disorder MONDO:0010002 Rothmund-Thomson syndrome ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital poikiloderma -MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia +MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia MONDO:0010011 schizencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schizencephaly MONDO:0010011 schizencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schizencephaly MONDO:0010030 Sjogren syndrome ICD10CM:M35.0 MONDO:equivalentTo Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sicca syndrome MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4-hydroxybutyric aciduria +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-hydroxybutyric aciduria MONDO:0010085 Schilder disease ICD10CM:G37.0 MONDO:equivalentTo Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilders disorder MONDO:0010089 isolated sulfite oxidase deficiency ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia -MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym taurodontism +MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of size and form of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taurodontism MONDO:0010138 thyrotoxicosis ICD10CM:E05 MONDO:equivalentTo Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxicosis MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weaver syndrome MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome MONDO:0010200 Wilson disease ICD10CM:E83.01 MONDO:equivalentTo Wilson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wilsons disorder MONDO:0010229 alopecia, congenital ICD10CM:Q84.0 MONDO:equivalentTo Congenital alopecia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alopecia MONDO:0010269 Coats disease ICD10CM:H35.02 MONDO:equivalentTo Exudative retinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative retinopathy -MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fragile x syndrome +MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome MONDO:0010421 Bruton-type agammaglobulinemia ICD10CM:D80.0 MONDO:equivalentTo Hereditary hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked agammaglobulinemia MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia a MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia a MONDO:0010602 hemophilia A ICD10CM:D66 MONDO:equivalentTo Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor viii deficiency MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christmas disorder MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor ix deficiency -MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia b MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b +MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemophilia b MONDO:0010622 recessive X-linked ichthyosis ICD10CM:Q80.1 MONDO:equivalentTo X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis MONDO:0010683 X-linked centronuclear myopathy ICD10CM:G71.220 MONDO:equivalentTo X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy MONDO:0010703 ornithine carbamoyltransferase deficiency ICD10CM:E72.4 MONDO:equivalentTo Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency @@ -978,19 +977,19 @@ MONDO:0011057 cerebrovascular disorder ICD10CM:I67.89 MONDO:equivalentTo Other c MONDO:0011118 bilineal acute myeloid leukemia ICD10CM:C95.0 MONDO:equivalentTo Acute leukemia of unspecified cell type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute bilineal leukemia MONDO:0011230 ossification of the posterior longitudinal ligament of the spine ICD10CM:M48.8 MONDO:equivalentTo Other specified spondylopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ossification of posterior longitudinal ligament MONDO:0011266 myotonic dystrophy type 2 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic myopathy +MONDO:0011382 sickle cell anemia ICD10CM:D57.20 MONDO:equivalentTo Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis MONDO:0011382 sickle cell anemia ICD10CM:D57.2 MONDO:equivalentTo Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disorder MONDO:0011382 sickle cell anemia ICD10CM:D57.1 MONDO:equivalentTo Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disorder without crisis -MONDO:0011382 sickle cell anemia ICD10CM:D57.20 MONDO:equivalentTo Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disorder without crisis -MONDO:0011414 Peters anomaly ICD10CM:Q13.4 MONDO:equivalentTo Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly MONDO:0011414 Peters anomaly ICD10CM:Q13.4 MONDO:equivalentTo Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peters anomaly -MONDO:0011438 acne ICD10CM:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis +MONDO:0011414 Peters anomaly ICD10CM:Q13.4 MONDO:equivalentTo Other congenital corneal malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peters anomaly MONDO:0011438 acne ICD10CM:L70.0 MONDO:equivalentTo Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris -MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivalentTo Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex regional pain syndrome i +MONDO:0011438 acne ICD10CM:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivalentTo Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflex sympathetic dystrophy +MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivalentTo Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex regional pain syndrome i MONDO:0011565 metabolic syndrome X ICD10CM:E88.81 MONDO:equivalentTo Metabolic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysmetabolic syndrome x MONDO:0011612 glycine encephalopathy ICD10CM:E72.51 MONDO:equivalentTo Non-ketotic hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-ketotic hyperglycinemia -MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pars planitis MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis +MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pars planitis MONDO:0011644 pars planitis ICD10CM:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pars planitis MONDO:0011731 glucose-galactose malabsorption ICD10CM:E74.39 MONDO:equivalentTo Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucose-galactose malabsorption MONDO:0011731 glucose-galactose malabsorption ICD10CM:E74.39 MONDO:equivalentTo Other disorders of intestinal carbohydrate absorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucose-galactose malabsorption @@ -1015,27 +1014,27 @@ MONDO:0013300 commissural facial cleft ICD10CM:Q18.4 MONDO:equivalentTo Macrosto MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acatalasia MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acatalasia MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency ICD10CM:D80.8 MONDO:equivalentTo Other immunodeficiencies with predominantly antibody defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kappa light chain deficiency +MONDO:0013662 Barrett esophagus ICD10CM:K22.7 MONDO:equivalentTo Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label barretts esophagus MONDO:0013662 Barrett esophagus ICD10CM:K22.1 MONDO:equivalentTo Ulcer of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative esophagitis MONDO:0013662 Barrett esophagus ICD10CM:K22.7 MONDO:equivalentTo Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barretts syndrome -MONDO:0013662 Barrett esophagus ICD10CM:K22.7 MONDO:equivalentTo Barrett's esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label barretts esophagus MONDO:0013730 graft versus host disease ICD10CM:D89.81 MONDO:equivalentTo Graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder -MONDO:0014306 vasculitis due to ADA2 deficiency ICD10CM:D81.32 MONDO:equivalentTo Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency ICD10CM:D81.32 MONDO:equivalentTo Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency ICD10CM:D81.32 MONDO:equivalentTo Adenosine deaminase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada2 deficiency MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic ICD10CM:E88.09 MONDO:equivalentTo Other disorders of plasma-protein metabolism, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bisalbuminemia MONDO:0014452 familial dysfibrinogenemia ICD10CM:D68.2 MONDO:equivalentTo Hereditary deficiency of other clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysfibrinogenemia MONDO:0014624 Brown syndrome ICD10CM:H50.61 MONDO:equivalentTo Brown's sheath syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label browns sheath syndrome -MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean lymphoma MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha heavy chain disorder +MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean lymphoma MONDO:0015045 alpha-heavy chain disease ICD10CM:C88.3 MONDO:equivalentTo Immunoproliferative small intestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunoproliferative small intestinal disorder MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary adrenocortical insufficiency -MONDO:0015134 constitutional neutropenia ICD10CM:D70.0 MONDO:equivalentTo Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia +MONDO:0015129 chronic primary adrenal insufficiency ICD10CM:E27.1 MONDO:equivalentTo Primary adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym addisons disorder MONDO:0015134 constitutional neutropenia ICD10CM:D70.0 MONDO:equivalentTo Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile genetic agranulocytosis +MONDO:0015134 constitutional neutropenia ICD10CM:D70.0 MONDO:equivalentTo Congenital agranulocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia MONDO:0015231 Bartter syndrome ICD10CM:E26.81 MONDO:equivalentTo Bartter's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartters syndrome MONDO:0015254 schistosomiasis ICD10CM:B65 MONDO:equivalentTo Schistosomiasis [bilharziasis] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis -MONDO:0015263 Brugada syndrome ICD10CM:I49.8 MONDO:equivalentTo Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brugada syndrome MONDO:0015263 Brugada syndrome ICD10CM:I49.8 MONDO:equivalentTo Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brugada syndrome +MONDO:0015263 Brugada syndrome ICD10CM:I49.8 MONDO:equivalentTo Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brugada syndrome MONDO:0015274 chronic beryllium disease ICD10CM:J63.2 MONDO:equivalentTo Berylliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label berylliosis MONDO:0015299 Asherman syndrome ICD10CM:N85.6 MONDO:equivalentTo Intrauterine synechiae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrauterine synechiae MONDO:0015340 drug rash with eosinophilia and systemic symptoms ICD10CM:D72.12 MONDO:equivalentTo Drug rash with eosinophilia and systemic symptoms syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dress syndrome @@ -1043,8 +1042,8 @@ MONDO:0015347 multicentric reticulohistiocytosis ICD10CM:E78.81 MONDO:equivalent MONDO:0015397 oculo-auriculo-vertebral spectrum ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldenhar syndrome MONDO:0015450 triatrial heart ICD10CM:Q24.2 MONDO:equivalentTo Cor triatriatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor triatriatum MONDO:0015453 Cogan syndrome ICD10CM:H16.32 MONDO:equivalentTo Diffuse interstitial keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cogans syndrome -MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple carboxylase deficiency +MONDO:0015454 multiple carboxylase deficiency ICD10CM:D81.81 MONDO:equivalentTo Biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple carboxylase deficiency MONDO:0015517 common variable immunodeficiency ICD10CM:D80.1 MONDO:equivalentTo Nonfamilial hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common variable agammaglobulinemia MONDO:0015540 hemophagocytic syndrome ICD10CM:D76.1 MONDO:equivalentTo Hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemophagocytic lymphohistiocytosis MONDO:0015558 isolated bone marrow mastocytosis ICD10CM:D47.02 MONDO:equivalentTo Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated bone marrow mastocytosis @@ -1054,8 +1053,8 @@ MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hered MONDO:0015626 Charcot-Marie-Tooth disease ICD10CM:G60.0 MONDO:equivalentTo Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy MONDO:0015636 dirofilariasis ICD10CM:B74.8 MONDO:equivalentTo Other filariases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dirofilariasis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hellers syndrome -MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symbiotic psychosis +MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disintegrative psychosis MONDO:0015681 childhood disintegrative disorder ICD10CM:F84.3 MONDO:equivalentTo Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dementia infantilis MONDO:0015691 hypereosinophilic syndrome ICD10CM:D72.11 MONDO:equivalentTo Hypereosinophilic syndrome [HES] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome MONDO:0015692 refractory anemia with excess blasts in transformation ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym refractory anemia with excess blasts in transformation @@ -1080,8 +1079,8 @@ MONDO:0016079 sporadic Creutzfeldt-Jakob disease ICD10CM:A81.09 MONDO:equivalent MONDO:0016107 myotonic dystrophy ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy MONDO:0016129 eosinophilic gastroenteritis ICD10CM:K52.81 MONDO:equivalentTo Eosinophilic gastritis or gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic enteritis MONDO:0016158 narcolepsy-cataplexy syndrome ICD10CM:G47.411 MONDO:equivalentTo Narcolepsy with cataplexy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy with cataplexy -MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cutis laxa MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutis laxa +MONDO:0016175 cutis laxa ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cutis laxa MONDO:0016242 hemoglobin C disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-c disorder MONDO:0016243 hemoglobin E disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-e disorder MONDO:0016301 congenitally corrected transposition of the great arteries ICD10CM:Q20.5 MONDO:equivalentTo Discordant atrioventricular connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventricular inversion @@ -1090,11 +1089,11 @@ MONDO:0016344 hydranencephaly ICD10CM:Q04.3 MONDO:equivalentTo Other reduction d MONDO:0016367 dermatomyositis ICD10CM:M33 MONDO:equivalentTo Dermatopolymyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermatopolymyositis MONDO:0016372 glossopharyngeal neuralgia ICD10CM:G52.1 MONDO:equivalentTo Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glossopharyngeal neuralgia MONDO:0016372 glossopharyngeal neuralgia ICD10CM:G52.1 MONDO:equivalentTo Disorders of glossopharyngeal nerve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glossopharyngeal neuralgia -MONDO:0016466 asbestosis ICD10CM:J61 MONDO:equivalentTo Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis MONDO:0016466 asbestosis ICD10CM:J61 MONDO:equivalentTo Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis -MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major -MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cooleys anemia +MONDO:0016466 asbestosis ICD10CM:J61 MONDO:equivalentTo Pneumoconiosis due to asbestos and other mineral fibers semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis MONDO:0016486 beta-thalassemia major ICD10CM:D56.9 MONDO:equivalentTo Thalassemia, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean anemia +MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cooleys anemia +MONDO:0016486 beta-thalassemia major ICD10CM:D56.1 MONDO:equivalentTo Beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta thalassemia major MONDO:0016544 IgG4-related mesenteritis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sclerosing mesenteritis MONDO:0016544 IgG4-related mesenteritis ICD10CM:K65.4 MONDO:equivalentTo Sclerosing mesenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenteric panniculitis MONDO:0016567 locked-in syndrome ICD10CM:G83.5 MONDO:equivalentTo Locked-in state semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label locked-in state @@ -1107,8 +1106,8 @@ MONDO:0016971 limb-girdle muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo O MONDO:0016989 Fuchs heterochromic iridocyclitis ICD10CM:H20.81 MONDO:equivalentTo Fuchs' heterochromic cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fuchs' heterochromic cyclitis MONDO:0017069 spina bifida cystica ICD10CM:Q05 MONDO:equivalentTo Spina bifida semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningomyelocele MONDO:0017078 cephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele -MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalocele MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meningoencephalocele +MONDO:0017079 meningoencephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meningoencephalocele MONDO:0017124 noma ICD10CM:A69.0 MONDO:equivalentTo Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noma MONDO:0017124 noma ICD10CM:A69.0 MONDO:equivalentTo Necrotizing ulcerative stomatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancrum oris MONDO:0017147 idiopathic pulmonary arterial hypertension ICD10CM:I27.0 MONDO:equivalentTo Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic pulmonary arterial hypertension @@ -1120,8 +1119,8 @@ MONDO:0017194 Blount disease ICD10CM:M92.51 MONDO:equivalentTo Juvenile osteocho MONDO:0017236 rapidly progressive glomerulonephritis ICD10CM:N01 MONDO:equivalentTo Rapidly progressive nephritic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rapidly progressive glomerulonephritis MONDO:0017373 poliomyelitis ICD10CM:A80 MONDO:equivalentTo Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis MONDO:0017376 reactive arthritis ICD10CM:M02.1 MONDO:equivalentTo Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy -MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive arthritis MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiters disorder +MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive arthritis MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis MONDO:0017410 porencephaly ICD10CM:Q04.6 MONDO:equivalentTo Congenital cerebral cysts semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly MONDO:0017416 postpoliomyelitis syndrome ICD10CM:G14 MONDO:equivalentTo Postpolio syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postpolio syndrome @@ -1138,10 +1137,10 @@ MONDO:0017775 melioidosis ICD10CM:A24.9 MONDO:equivalentTo Melioidosis, unspecif MONDO:0017775 melioidosis ICD10CM:A24.1 MONDO:equivalentTo Acute and fulminating melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute and fulminating melioidosis MONDO:0017775 melioidosis ICD10CM:A24.2 MONDO:equivalentTo Subacute and chronic melioidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subacute and chronic melioidosis MONDO:0017870 supravalvular pulmonary stenosis ICD10CM:Q25.6 MONDO:equivalentTo Stenosis of pulmonary artery semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym supravalvular pulmonary stenosis -MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label junin hemorrhagic fever MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym argentinian hemorrhagic fever -MONDO:0017875 Bolivian hemorrhagic fever ICD10CM:A96.1 MONDO:equivalentTo Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bolivian hemorrhagic fever +MONDO:0017874 Argentine hemorrhagic fever ICD10CM:A96.0 MONDO:equivalentTo Junin hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label junin hemorrhagic fever MONDO:0017875 Bolivian hemorrhagic fever ICD10CM:A96.1 MONDO:equivalentTo Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label machupo hemorrhagic fever +MONDO:0017875 Bolivian hemorrhagic fever ICD10CM:A96.1 MONDO:equivalentTo Machupo hemorrhagic fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bolivian hemorrhagic fever MONDO:0017979 autoimmune lymphoproliferative syndrome ICD10CM:D89.82 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome [ALPS] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome MONDO:0017985 congenital radioulnar synostosis ICD10CM:Q74.0 MONDO:equivalentTo Other congenital malformations of upper limb(s), including shoulder girdle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym radioulnar synostosis MONDO:0017991 Takayasu arteritis ICD10CM:M31.4 MONDO:equivalentTo Aortic arch syndrome [Takayasu] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic arch syndrome @@ -1150,15 +1149,15 @@ MONDO:0018018 wild type ATTR amyloidosis ICD10CM:E85.82 MONDO:equivalentTo Wild- MONDO:0018025 chronic actinic dermatitis ICD10CM:L57.1 MONDO:equivalentTo Actinic reticuloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label actinic reticuloid MONDO:0018044 idiopathic hypersomnia ICD10CM:F51.11 MONDO:equivalentTo Primary hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypersomnia MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus -MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common arterial trunk +MONDO:0018072 persistent truncus arteriosus ICD10CM:Q20.0 MONDO:equivalentTo Common arterial trunk semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0018088 familial Mediterranean fever ICD10CM:M04.1 MONDO:equivalentTo Periodic fever syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever MONDO:0018089 double outlet right ventricle ICD10CM:Q20.3 MONDO:equivalentTo Discordant ventriculoarterial connection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dextrotransposition of aorta MONDO:0018092 Vogt-Koyanagi-Harada disease ICD10CM:H30.81 MONDO:equivalentTo Harada's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label haradas disorder MONDO:0018092 Vogt-Koyanagi-Harada disease ICD10CM:H20.82 MONDO:equivalentTo Vogt-Koyanagi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vogt-koyanagi syndrome MONDO:0018097 West syndrome ICD10CM:G40.82 MONDO:equivalentTo Epileptic spasms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile spasms -MONDO:0018106 hereditary xanthinuria ICD10CM:E79.8 MONDO:equivalentTo Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary xanthinuria MONDO:0018106 hereditary xanthinuria ICD10CM:E79.8 MONDO:equivalentTo Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary xanthinuria +MONDO:0018106 hereditary xanthinuria ICD10CM:E79.8 MONDO:equivalentTo Other disorders of purine and pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary xanthinuria MONDO:0018149 GM1 gangliosidosis ICD10CM:E75.19 MONDO:equivalentTo Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gm1 gangliosidosis MONDO:0018155 lateral sclerosis ICD10CM:G12.23 MONDO:equivalentTo Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary lateral sclerosis MONDO:0018181 staphylococcal scalded skin syndrome ICD10CM:L01.03 MONDO:equivalentTo Bullous impetigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pemphigus neonatorum @@ -1166,14 +1165,14 @@ MONDO:0018301 interstitial cystitis ICD10CM:N30.1 MONDO:equivalentTo Interstitia MONDO:0018305 chronic granulomatous disease ICD10CM:D71 MONDO:equivalentTo Functional disorders of polymorphonuclear neutrophils semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dysphagocytosis MONDO:0018309 Hirschsprung disease ICD10CM:Q43.1 MONDO:equivalentTo Hirschsprung's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hirschsprungs disorder MONDO:0018362 persistent idiopathic facial pain ICD10CM:G50.1 MONDO:equivalentTo Atypical facial pain semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical facial pain -MONDO:0018381 osteochondrosis ICD10CM:M92.7 MONDO:equivalentTo Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M91.0 MONDO:equivalentTo Juvenile osteochondrosis of pelvis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M92.0 MONDO:equivalentTo Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.4 MONDO:equivalentTo Juvenile osteochondrosis of patella semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.6 MONDO:equivalentTo Juvenile osteochondrosis of tarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M92.1 MONDO:equivalentTo Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M92.22 MONDO:equivalentTo Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis -MONDO:0018381 osteochondrosis ICD10CM:M92.0 MONDO:equivalentTo Juvenile osteochondrosis of humerus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018381 osteochondrosis ICD10CM:M92.21 MONDO:equivalentTo Osteochondrosis (juvenile) of carpal lunate [Kienböck] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M92.7 MONDO:equivalentTo Juvenile osteochondrosis of metatarsus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M92.22 MONDO:equivalentTo Osteochondrosis (juvenile) of metacarpal heads [Mauclaire] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis +MONDO:0018381 osteochondrosis ICD10CM:M92.1 MONDO:equivalentTo Juvenile osteochondrosis of radius and ulna semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteochondrosis MONDO:0018382 epiphysiolysis of the hip ICD10CM:M93.0 MONDO:equivalentTo Slipped upper femoral epiphysis (nontraumatic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slipped upper femoral epiphysis MONDO:0018408 cystic echinococcosis ICD10CM:B67.1 MONDO:equivalentTo Echinococcus granulosus infection of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus infection of lung MONDO:0018432 lichen myxedematosus ICD10CM:L98.5 MONDO:equivalentTo Mucinosis of the skin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lichen myxedematosus @@ -1187,13 +1186,13 @@ MONDO:0018551 patent urachus ICD10CM:Q64.4 MONDO:equivalentTo Malformation of ur MONDO:0018570 hypophosphatasia ICD10CM:E83.39 MONDO:equivalentTo Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypophosphatasia MONDO:0018623 postpartum psychosis ICD10CM:F53.1 MONDO:equivalentTo Puerperal psychosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postpartum psychosis MONDO:0018623 postpartum psychosis ICD10CM:F53.1 MONDO:equivalentTo Puerperal psychosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label puerperal psychosis -MONDO:0018646 sclerosing cholangitis ICD10CM:K83.01 MONDO:equivalentTo Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis ICD10CM:K83.01 MONDO:equivalentTo Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis ICD10CM:K83.09 MONDO:equivalentTo Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerosing cholangitis MONDO:0018690 Holmes-Adie syndrome ICD10CM:H57.05 MONDO:equivalentTo Tonic pupil semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonic pupil MONDO:0018695 avian influenza ICD10CM:J09.X MONDO:equivalentTo Influenza due to identified novel influenza A virus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym avian influenza -MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cicatricial pemphigoid MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign mucous membrane pemphigoid +MONDO:0018746 mucous membrane pemphigoid ICD10CM:L12.1 MONDO:equivalentTo Cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cicatricial pemphigoid MONDO:0018755 scorpion envenomation ICD10CM:T63.2 MONDO:equivalentTo Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion MONDO:0018755 scorpion envenomation ICD10CM:T63.2X MONDO:equivalentTo Toxic effect of venom of scorpion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label toxic effect of venom of scorpion MONDO:0018768 familial cold autoinflammatory syndrome ICD10CM:M04.2 MONDO:equivalentTo Cryopyrin-associated periodic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome @@ -1203,15 +1202,15 @@ MONDO:0018849 dentinogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Heredit MONDO:0018849 dentinogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dentinogenesis imperfecta MONDO:0018850 proliferating trichilemmal cyst ICD10CM:L72.11 MONDO:equivalentTo Pilar cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pilar cyst MONDO:0018857 creeping myiasis ICD10CM:B87.0 MONDO:equivalentTo Cutaneous myiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym creeping myiasis -MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 -MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia +MONDO:0018871 acute myelomonocytic leukemia M4 ICD10CM:C92.5 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloblastic leukemia +MONDO:0018874 acute myeloid leukemia ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia MONDO:0018881 myelodysplastic syndrome ICD10CM:D46 MONDO:equivalentTo Myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndromes MONDO:0018894 distal hereditary motor neuropathy ICD10CM:G12.1 MONDO:equivalentTo Other inherited spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sideropenic dysphagia -MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelly-paterson syndrome MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plummer-vinson syndrome +MONDO:0018895 Plummer-Vinson syndrome ICD10CM:D50.1 MONDO:equivalentTo Sideropenic dysphagia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelly-paterson syndrome MONDO:0018896 thrombotic thrombocytopenic purpura ICD10CM:M31.19 MONDO:equivalentTo Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thrombotic thrombocytopenic purpura MONDO:0018903 sarcocystosis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosporidiosis MONDO:0018903 sarcocystosis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcocystosis @@ -1220,8 +1219,8 @@ MONDO:0018921 Meckel syndrome ICD10CM:Q61.9 MONDO:equivalentTo Cystic kidney dis MONDO:0018922 cold agglutinin disease ICD10CM:D59.12 MONDO:equivalentTo Cold autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cold agglutinin disorder MONDO:0018925 familial or sporadic hemiplegic migraine ICD10CM:G43.4 MONDO:equivalentTo Hemiplegic migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemiplegic migraine MONDO:0018938 mucopolysaccharidosis type 4 ICD10CM:E76.219 MONDO:equivalentTo Morquio mucopolysaccharidoses, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome -MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiminicore disorder MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore disorder +MONDO:0018948 multiminicore myopathy ICD10CM:G71.29 MONDO:equivalentTo Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiminicore disorder MONDO:0018949 distal myopathy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal muscular dystrophy MONDO:0018962 common mesentery ICD10CM:Q43.3 MONDO:equivalentTo Congenital malformations of intestinal fixation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym universal mesentery MONDO:0018963 hereditary methemoglobinemia ICD10CM:D74.0 MONDO:equivalentTo Congenital methemoglobinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital methemoglobinemia @@ -1233,24 +1232,24 @@ MONDO:0018992 IgG4-related thyroid disease ICD10CM:E06.5 MONDO:equivalentTo Othe MONDO:0018997 Noonan syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome MONDO:0018997 Noonan syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephronophthisis -MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephronophthisis MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary cystic kidney -MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele +MONDO:0019005 nephronophthisis ICD10CM:Q61.5 MONDO:equivalentTo Medullary cystic kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nephronophthisis MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exomphalos MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym omphalocele -MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome +MONDO:0019015 omphalocele ICD10CM:Q79.2 MONDO:equivalentTo Exomphalos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym omphalocele MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label takotsubo syndrome MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym takotsubo cardiomyopathy +MONDO:0019018 Tako-tsubo cardiomyopathy ICD10CM:I51.81 MONDO:equivalentTo Takotsubo syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient left ventricular apical ballooning syndrome MONDO:0019025 extracutaneous mastocytoma ICD10CM:D47.09 MONDO:equivalentTo Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym extracutaneous mastocytoma MONDO:0019025 extracutaneous mastocytoma ICD10CM:D47.09 MONDO:equivalentTo Other mast cell neoplasms of uncertain behavior semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym extracutaneous mastocytoma MONDO:0019034 accessory pancreas ICD10CM:Q45.3 MONDO:equivalentTo Other congenital malformations of pancreas and pancreatic duct semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym accessory pancreas +MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive supranuclear ophthalmoplegia MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive supranuclear palsy -MONDO:0019037 progressive supranuclear palsy ICD10CM:G23.1 MONDO:equivalentTo Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive supranuclear ophthalmoplegia -MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma -MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder +MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholangiocarcinoma MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym post-transplant lymphoproliferative disorder +MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder MONDO:0019100 neuromyelitis optica ICD10CM:G36.0 MONDO:equivalentTo Neuromyelitis optica [Devic] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein c deficiency MONDO:0019147 myiasis ICD10CM:B87.9 MONDO:equivalentTo Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified @@ -1258,8 +1257,8 @@ MONDO:0019148 Wolman disease ICD10CM:E75.5 MONDO:equivalentTo Other lipid storag MONDO:0019154 androgen insensitivity syndrome ICD10CM:E34.51 MONDO:equivalentTo Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldberg-maxwell syndrome MONDO:0019157 myelodysplastic syndrome with ring sideroblasts ICD10CM:D46.1 MONDO:equivalentTo Refractory anemia with ring sideroblasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia with ring sideroblasts MONDO:0019165 central precocious puberty ICD10CM:E22.8 MONDO:equivalentTo Other hyperfunction of pituitary gland semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym central precocious puberty -MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura +MONDO:0019167 immunoglobulin a vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica MONDO:0019168 pyomyositis ICD10CM:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis MONDO:0019172 aniridia ICD10CM:Q13.1 MONDO:equivalentTo Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia MONDO:0019187 Axenfeld-Rieger syndrome ICD10CM:Q13.81 MONDO:equivalentTo Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label riegers anomaly @@ -1273,20 +1272,20 @@ MONDO:0019203 acute interstitial pneumonia ICD10CM:J84.114 MONDO:equivalentTo Ac MONDO:0019210 cutaneous neuroendocrine carcinoma ICD10CM:C4A MONDO:equivalentTo Merkel cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label merkel cell carcinoma MONDO:0019212 disseminated superficial actinic porokeratosis ICD10CM:L56.5 MONDO:equivalentTo Disseminated superficial actinic porokeratosis (DSAP) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated superficial actinic porokeratosis MONDO:0019260 adult neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kufs disorder -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spielmeyer-vogt disorder MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym batten disorder +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spielmeyer-vogt disorder MONDO:0019287 ectodermal dysplasia syndrome ICD10CM:Q82.4 MONDO:equivalentTo Ectodermal dysplasia (anhidrotic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia MONDO:0019314 cutaneous mastocytoma ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma -MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis +MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maculopapular cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0019319 verrucous nevus ICD10CM:Q82.5 MONDO:equivalentTo Congenital non-neoplastic nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym verrucous nevus MONDO:0019338 sarcoidosis ICD10CM:D80-D89 MONDO:equivalentTo Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis MONDO:0019338 sarcoidosis ICD10CM:D80-D89 MONDO:equivalentTo Certain disorders involving the immune mechanism (D80-D89) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis MONDO:0019342 Seckel syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seckel syndrome -MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome +MONDO:0019349 Sotos syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome MONDO:0019355 adult-onset Still disease ICD10CM:M06.1 MONDO:equivalentTo Adult-onset Still's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset stills disorder MONDO:0019359 Rocky mountain spotted fever ICD10CM:A77.0 MONDO:equivalentTo Spotted fever due to Rickettsia rickettsii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rocky mountain spotted fever MONDO:0019360 rickettsialpox ICD10CM:A79.1 MONDO:equivalentTo Rickettsialpox due to Rickettsia akari semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vesicular rickettsiosis @@ -1301,19 +1300,19 @@ MONDO:0019391 Fanconi anemia ICD10CM:D61.09 MONDO:equivalentTo Other constitutio MONDO:0019451 chronic neutrophilic leukemia ICD10CM:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neutrophilic leukemia MONDO:0019451 chronic neutrophilic leukemia ICD10CM:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic neutrophilic leukemia MONDO:0019458 acute basophilic leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute basophilic leukemia -MONDO:0019462 splenic marginal zone lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma MONDO:0019462 splenic marginal zone lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym splenic marginal zone lymphoma +MONDO:0019462 splenic marginal zone lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym splenic marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma ICD10CM:C83.0 MONDO:equivalentTo Small cell B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nodal marginal zone lymphoma MONDO:0019467 CD4+/CD56+ hematodermic neoplasm ICD10CM:C86.4 MONDO:equivalentTo Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm MONDO:0019467 CD4+/CD56+ hematodermic neoplasm ICD10CM:C86.4 MONDO:equivalentTo Blastic NK-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic nk-cell lymphoma MONDO:0019469 T-cell large granular lymphocyte leukemia ICD10CM:C91.Z MONDO:equivalentTo Other lymphoid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-cell large granular lymphocytic leukemia MONDO:0019470 aggressive NK-cell leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aggressive nk-cell leukemia MONDO:0019470 aggressive NK-cell leukemia ICD10CM:C94.8 MONDO:equivalentTo Other specified leukemias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aggressive nk-cell leukemia -MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:M31.2 MONDO:equivalentTo Lethal midline granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal midline granuloma MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:C86.0 MONDO:equivalentTo Extranodal NK/T-cell lymphoma, nasal type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label extranodal nk/t-cell lymphoma, nasal type +MONDO:0019472 extranodal nasal NK/T cell lymphoma ICD10CM:M31.2 MONDO:equivalentTo Lethal midline granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal midline granuloma MONDO:0019473 enteropathy-associated T-cell lymphoma ICD10CM:C86.2 MONDO:equivalentTo Enteropathy-type (intestinal) T-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enteropathy associated t-cell lymphoma -MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym langerhans cell sarcoma MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langerhans cell sarcoma +MONDO:0019480 Langerhans cell sarcoma ICD10CM:C96.4 MONDO:equivalentTo Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym langerhans cell sarcoma MONDO:0019487 epilepsy with myoclonic absences ICD10CM:G40.4 MONDO:equivalentTo Other generalized epilepsy and epileptic syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy with myoclonic absences MONDO:0019498 tungiasis ICD10CM:B88.1 MONDO:equivalentTo Tungiasis [sandflea infestation] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis MONDO:0019499 Turner syndrome ICD10CM:Q96.0 MONDO:equivalentTo Karyotype 45, X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyotype 45, x @@ -1321,15 +1320,15 @@ MONDO:0019507 amelogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditar MONDO:0019509 cutaneous leukocytoclastic angiitis ICD10CM:M31.0 MONDO:equivalentTo Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis MONDO:0019533 paroxysmal cold hemoglobinuria ICD10CM:D59.6 MONDO:equivalentTo Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria MONDO:0019537 hemoglobin D disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disorder -MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilic cellulitis -MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis +MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus erythematosus profundus +MONDO:0019561 lupus erythematosus panniculitis ICD10CM:L93.2 MONDO:equivalentTo Other local lupus erythematosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lupus panniculitis MONDO:0019562 localized scleroderma ICD10CM:L94.0 MONDO:equivalentTo Localized scleroderma [morphea] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma MONDO:0019565 hereditary von Willebrand disease ICD10CM:D69.8 MONDO:equivalentTo Other specified hemorrhagic conditions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vascular pseudohemophilia MONDO:0019576 telangiectasia macularis eruptiva perstans ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym telangiectasia macularis eruptiva perstans -MONDO:0019610 Zollinger-Ellison syndrome ICD10CM:E16.4 MONDO:equivalentTo Increased secretion of gastrin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zollinger-ellison syndrome MONDO:0019610 Zollinger-Ellison syndrome ICD10CM:E16.4 MONDO:equivalentTo Increased secretion of gastrin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym zollinger-ellison syndrome +MONDO:0019610 Zollinger-Ellison syndrome ICD10CM:E16.4 MONDO:equivalentTo Increased secretion of gastrin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zollinger-ellison syndrome MONDO:0019620 congenital esophageal diverticulum ICD10CM:Q39.6 MONDO:equivalentTo Congenital diverticulum of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital esophageal pouch MONDO:0019640 posterior urethral valve ICD10CM:Q64.2 MONDO:equivalentTo Congenital posterior urethral valves semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital posterior urethral valves MONDO:0019669 hypochondrogenesis ICD10CM:Q77.0 MONDO:equivalentTo Achondrogenesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondrogenesis @@ -1338,9 +1337,9 @@ MONDO:0019773 myelomeningocele ICD10CM:Q05 MONDO:equivalentTo Spina bifida semap MONDO:0019795 acalvaria ICD10CM:Q00.0 MONDO:equivalentTo Anencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrania MONDO:0019796 acrocephalosyndactyly ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrocephalosyndactyly MONDO:0019796 acrocephalosyndactyly ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acrocephalosyndactyly +MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocortical crisis MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addisonian crisis MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal crisis -MONDO:0019801 acute adrenal insufficiency ICD10CM:E27.2 MONDO:equivalentTo Addisonian crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocortical crisis MONDO:0019803 angioma serpiginosum ICD10CM:L81.7 MONDO:equivalentTo Pigmented purpuric dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym angioma serpiginosum MONDO:0019804 tracheomalacia ICD10CM:Q32.0 MONDO:equivalentTo Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tracheomalacia MONDO:0019806 primary progressive aphasia ICD10CM:G31.01 MONDO:equivalentTo Pick's disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary progressive aphasia @@ -1352,16 +1351,16 @@ MONDO:0019944 Eisenmenger syndrome ICD10CM:I27.83 MONDO:equivalentTo Eisenmenger MONDO:0019954 pancreatic neuroendocrine tumor ICD10CM:D13.7 MONDO:equivalentTo Benign neoplasm of endocrine pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym islet cell tumor MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niacin deficiency MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pellagra -MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pellagra +MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label niacin deficiency MONDO:0019978 Robinow syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-silverman-smith syndrome MONDO:0020076 myeloproliferative neoplasm ICD10CM:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disorder MONDO:0020110 pulmonary agenesis ICD10CM:Q33.3 MONDO:equivalentTo Agenesis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of lung MONDO:0020128 motor neuron disorder ICD10CM:G12.29 MONDO:equivalentTo Other motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motor neuron disorder MONDO:0020320 acute myeloblastic leukemia with maturation ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m2 MONDO:0020323 primary mediastinal large B-cell lymphoma ICD10CM:C85.2 MONDO:equivalentTo Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma -MONDO:0020324 intravascular large B-cell lymphoma ICD10CM:C83.8 MONDO:equivalentTo Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intravascular large b-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma ICD10CM:C83.8 MONDO:equivalentTo Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intravascular large b-cell lymphoma +MONDO:0020324 intravascular large B-cell lymphoma ICD10CM:C83.8 MONDO:equivalentTo Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intravascular large b-cell lymphoma MONDO:0020326 lymphomatoid papulosis ICD10CM:C86.6 MONDO:equivalentTo Primary cutaneous CD30-positive T-cell proliferations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphomatoid papulosis MONDO:0020331 indolent systemic mastocytosis ICD10CM:D47.02 MONDO:equivalentTo Systemic mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym indolent systemic mastocytosis MONDO:0020357 coloboma of eyelid ICD10CM:Q10.3 MONDO:equivalentTo Other congenital malformations of eyelid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coloboma of eyelid @@ -1373,17 +1372,17 @@ MONDO:0020453 congenital partial pulmonary venous return anomaly ICD10CM:Q26.3 M MONDO:0020481 myotonia fluctuans ICD10CM:G71.19 MONDO:equivalentTo Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia fluctuans MONDO:0020482 myotonia permanens ICD10CM:G71.19 MONDO:equivalentTo Other specified myotonic disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonia permanens MONDO:0020500 Marburg hemorrhagic fever ICD10CM:A98.3 MONDO:equivalentTo Marburg virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marburg virus disorder +MONDO:0020502 yellow fever ICD10CM:A95.0 MONDO:equivalentTo Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sylvatic yellow fever MONDO:0020502 yellow fever ICD10CM:A95.0 MONDO:equivalentTo Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jungle yellow fever MONDO:0020502 yellow fever ICD10CM:A95.1 MONDO:equivalentTo Urban yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urban yellow fever -MONDO:0020502 yellow fever ICD10CM:A95.0 MONDO:equivalentTo Sylvatic yellow fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sylvatic yellow fever -MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma -MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma MONDO:0020517 eosinophilic granuloma ICD10CM:K13.4 MONDO:equivalentTo Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma +MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eosinophilic granuloma MONDO:0020517 eosinophilic granuloma ICD10CM:K13.4 MONDO:equivalentTo Granuloma and granuloma-like lesions of oral mucosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma +MONDO:0020517 eosinophilic granuloma ICD10CM:C96.6 MONDO:equivalentTo Unifocal Langerhans-cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic granuloma MONDO:0020532 spirillary rat-bite fever ICD10CM:A25.0 MONDO:equivalentTo Spirillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sodoku +MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptobacillary rat-bite fever MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streptobacillary rat-bite fever -MONDO:0020533 streptobacillary rat-bite fever ICD10CM:A25.1 MONDO:equivalentTo Streptobacillosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haverhill fever MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym invasive hydatidiform mole MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorioadenoma destruens MONDO:0020549 invasive hydatidiform mole ICD10CM:D39.2 MONDO:equivalentTo Neoplasm of uncertain behavior of placenta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym invasive hydatidiform mole @@ -1399,16 +1398,16 @@ MONDO:0020815 dentigerous cyst ICD10CM:K09.0 MONDO:equivalentTo Developmental od MONDO:0020830 diaphragmitis ICD10CM:J98.6 MONDO:equivalentTo Disorders of diaphragm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphragmatitis MONDO:0020989 hereditary persistence of fetal hemoglobin ICD10CM:D56.4 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin [HPFH] semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin MONDO:0021001 hemochromatosis type 1 ICD10CM:E83.11 MONDO:equivalentTo Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis -MONDO:0021061 neurofibromatosis ICD10CM:Q85.0 MONDO:equivalentTo Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis MONDO:0021061 neurofibromatosis ICD10CM:Q85.0 MONDO:equivalentTo Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibromatosis +MONDO:0021061 neurofibromatosis ICD10CM:Q85.0 MONDO:equivalentTo Neurofibromatosis (nonmalignant) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis MONDO:0021061 neurofibromatosis ICD10CM:Q85.02 MONDO:equivalentTo Neurofibromatosis, type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurofibromatosis MONDO:0021063 malignant colon neoplasm ICD10CM:C18 MONDO:equivalentTo Malignant neoplasm of colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of colon MONDO:0021104 alcoholic fatty liver disease ICD10CM:K70.0 MONDO:equivalentTo Alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic fatty liver MONDO:0021112 scrotum cancer ICD10CM:C63.2 MONDO:equivalentTo Malignant neoplasm of scrotum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of scrotum MONDO:0021132 tertiary hyperparathyroidism ICD10CM:E21.2 MONDO:equivalentTo Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tertiary hyperparathyroidism MONDO:0021132 tertiary hyperparathyroidism ICD10CM:E21.2 MONDO:equivalentTo Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tertiary hyperparathyroidism -MONDO:0021287 carcinoma in situ of epiglottis ICD10CM:D02.0 MONDO:equivalentTo Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis MONDO:0021287 carcinoma in situ of epiglottis ICD10CM:D02.0 MONDO:equivalentTo Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carcinoma in situ of epiglottis +MONDO:0021287 carcinoma in situ of epiglottis ICD10CM:D02.0 MONDO:equivalentTo Carcinoma in situ of larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carcinoma in situ of epiglottis MONDO:0021311 malignant tumor of parathyroid gland ICD10CM:C75.0 MONDO:equivalentTo Malignant neoplasm of parathyroid gland semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of parathyroid gland MONDO:0021315 malignant tumor of nasopharynx ICD10CM:C11 MONDO:equivalentTo Malignant neoplasm of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of nasopharynx MONDO:0021317 cancer of cerebellum ICD10CM:C71.6 MONDO:equivalentTo Malignant neoplasm of cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cerebellum @@ -1421,8 +1420,8 @@ MONDO:0021497 benign neoplasm of cerebrum ICD10CM:D33.0 MONDO:equivalentTo Benig MONDO:0021499 benign neoplasm of cerebellum ICD10CM:D33.1 MONDO:equivalentTo Benign neoplasm of brain, infratentorial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of cerebellum MONDO:0021500 benign neoplasm of spleen ICD10CM:D13.9 MONDO:equivalentTo Benign neoplasm of ill-defined sites within the digestive system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of spleen MONDO:0021507 benign neoplasm of brain stem ICD10CM:D33.1 MONDO:equivalentTo Benign neoplasm of brain, infratentorial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign neoplasm of brain stem -MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lentigo MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lentigo +MONDO:0021582 lentigo ICD10CM:L81.4 MONDO:equivalentTo Other melanin hyperpigmentation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lentigo MONDO:0021777 acute rheumatic heart disease ICD10CM:I01.8 MONDO:equivalentTo Other acute rheumatic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute rheumatic heart disorder MONDO:0021783 streptococcal sore throat ICD10CM:J02.0 MONDO:equivalentTo Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym streptococcal sore throat MONDO:0021783 streptococcal sore throat ICD10CM:J02.0 MONDO:equivalentTo Streptococcal pharyngitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label streptococcal pharyngitis @@ -1438,35 +1437,35 @@ MONDO:0022428 aluminosis ICD10CM:J63.0 MONDO:equivalentTo Aluminosis (of lung) s MONDO:0022430 persistent fetal circulation syndrome ICD10CM:P29.3 MONDO:equivalentTo Persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label persistent fetal circulation MONDO:0022792 coccygodynia ICD10CM:M53.3 MONDO:equivalentTo Sacrococcygeal disorders, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coccygodynia MONDO:0022968 dextrocardia with situs inversus ICD10CM:Q89.3 MONDO:equivalentTo Situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dextrocardia with situs inversus -MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites -MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral pericarditis +MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym viral pericarditis +MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral pericarditis MONDO:0023419 hyperprolinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolinemia MONDO:0023483 infectious myositis ICD10CM:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective myositis MONDO:0023642 Weber syndrome ICD10CM:G46.3 MONDO:equivalentTo Brain stem stroke syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weber syndrome MONDO:0024327 chronic renal failure syndrome ICD10CM:N18.9 MONDO:equivalentTo Chronic kidney disease, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic renal disorder -MONDO:0024332 perennial allergic rhinitis ICD10CM:J30.89 MONDO:equivalentTo Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perennial allergic rhinitis MONDO:0024332 perennial allergic rhinitis ICD10CM:J30.89 MONDO:equivalentTo Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perennial allergic rhinitis +MONDO:0024332 perennial allergic rhinitis ICD10CM:J30.89 MONDO:equivalentTo Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perennial allergic rhinitis MONDO:0024470 benign chondrogenic neoplasm ICD10CM:D21 MONDO:equivalentTo Other benign neoplasms of connective and other soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neoplasm of cartilage -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marseilles fever -MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenya tick typhus MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym boutonneuse fever -MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boutonneuse fever +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mediterranean tick fever +MONDO:0024472 boutonneuse fever ICD10CM:A77.1 MONDO:equivalentTo Spotted fever due to Rickettsia conorii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african tick typhus MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secondary thrombocytosis +MONDO:0024518 reactive thrombocytosis ICD10CM:D75.838 MONDO:equivalentTo Other thrombocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reactive thrombocytosis MONDO:0024608 dientamoebiasis ICD10CM:A07.8 MONDO:equivalentTo Other specified protozoal intestinal diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal trichomoniasis MONDO:0024614 neurotic depression ICD10CM:F34.1 MONDO:equivalentTo Dysthymic disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurotic depression MONDO:0024614 neurotic depression ICD10CM:F34.1 MONDO:equivalentTo Dysthymic disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurotic depression -MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthogranuloma +MONDO:0024617 xanthogranuloma ICD10CM:D76.3 MONDO:equivalentTo Other histiocytosis syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym xanthogranuloma MONDO:0024633 hypertensive nephropathy ICD10CM:I12 MONDO:equivalentTo Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertensive nephropathy MONDO:0024633 hypertensive nephropathy ICD10CM:I12 MONDO:equivalentTo Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertensive nephropathy MONDO:0024636 inflammation of heart layer ICD10CM:I51.89 MONDO:equivalentTo Other ill-defined heart diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carditis -MONDO:0024643 myocardial disorder ICD10CM:I51.5 MONDO:equivalentTo Myocardial degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myocardial disorder MONDO:0024643 myocardial disorder ICD10CM:I51.5 MONDO:equivalentTo Myocardial degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myocardial disorder +MONDO:0024643 myocardial disorder ICD10CM:I51.5 MONDO:equivalentTo Myocardial degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myocardial disorder MONDO:0024655 rheumatic pericarditis ICD10CM:I01.0 MONDO:equivalentTo Acute rheumatic pericarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rheumatic pericarditis MONDO:0024655 rheumatic pericarditis ICD10CM:I01.0 MONDO:equivalentTo Acute rheumatic pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rheumatic pericarditis MONDO:0025028 vesicular stomatitis ICD10CM:K12.1 MONDO:equivalentTo Other forms of stomatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vesicular stomatitis @@ -1480,13 +1479,13 @@ MONDO:0037738 cauda equina cancer ICD10CM:C72.1 MONDO:equivalentTo Malignant neo MONDO:0041086 mixed anxiety and depressive disorder ICD10CM:F41.8 MONDO:equivalentTo Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed anxiety and depressive disorder MONDO:0041086 mixed anxiety and depressive disorder ICD10CM:F41.8 MONDO:equivalentTo Other specified anxiety disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed anxiety and depressive disorder MONDO:0041182 polymorphic light eruption ICD10CM:L56.4 MONDO:equivalentTo Polymorphous light eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption -MONDO:0041259 diphtheritic myocarditis ICD10CM:A36.81 MONDO:equivalentTo Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis MONDO:0041259 diphtheritic myocarditis ICD10CM:A36.81 MONDO:equivalentTo Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diphtheritic myocarditis -MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome +MONDO:0041259 diphtheritic myocarditis ICD10CM:A36.81 MONDO:equivalentTo Diphtheritic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diphtheritic myocarditis MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intraoperative floppy iris syndrome +MONDO:0041775 intraoperative floppy iris syndrome ICD10CM:H21.81 MONDO:equivalentTo Floppy iris syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intraoperative floppy iris syndrome MONDO:0041879 staphylococcus aureus pneumonia ICD10CM:J15.21 MONDO:equivalentTo Pneumonia due to staphylococcus aureus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to staphylococcus aureus -MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated candidiasis +MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weils disorder MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weils disorder MONDO:0043187 pulmonary artery agenesis ICD10CM:Q25.79 MONDO:equivalentTo Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery @@ -1495,9 +1494,9 @@ MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-eso MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mallory-weiss syndrome MONDO:0043472 ectopic ACTH secretion syndrome ICD10CM:E24.3 MONDO:equivalentTo Ectopic ACTH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectopic acth syndrome MONDO:0043475 Adams-Stokes syndrome ICD10CM:I45.9 MONDO:equivalentTo Conduction disorder, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stokes-adams syndrome -MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym histamine cephalgia MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrainous neuralgia +MONDO:0043537 cluster headache syndrome ICD10CM:G44.00 MONDO:equivalentTo Cluster headache syndrome, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ciliary neuralgia MONDO:0043683 Leriche syndrome ICD10CM:I74.09 MONDO:equivalentTo Other arterial embolism and thrombosis of abdominal aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leriches syndrome MONDO:0043693 alcoholic liver diseases ICD10CM:K70 MONDO:equivalentTo Alcoholic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcoholic liver disorder MONDO:0043731 lytic metastatic bone lesion ICD10CM:M89.5 MONDO:equivalentTo Osteolysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteolysis @@ -1514,8 +1513,8 @@ MONDO:0044903 myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis MONDO:0044903 myelofibrosis ICD10CM:D47.4 MONDO:equivalentTo Osteomyelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0045044 ligament disorder ICD10CM:M24.2 MONDO:equivalentTo Disorder of ligament semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ligament MONDO:0100006 secondary mast cell activation syndrome ICD10CM:D89.43 MONDO:equivalentTo Secondary mast cell activation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym secondary mast cell activation syndrome -MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric inflammatory multisystem syndrome MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multisystem inflammatory syndrome in children +MONDO:0100163 COVID-19–associated multisystem inflammatory syndrome in children ICD10CM:M35.81 MONDO:equivalentTo Multisystem inflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pediatric inflammatory multisystem syndrome MONDO:0100185 immune reconstitution inflammatory syndrome ICD10CM:D89.3 MONDO:equivalentTo Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune reconstitution syndrome MONDO:0100185 immune reconstitution inflammatory syndrome ICD10CM:D89.3 MONDO:equivalentTo Immune reconstitution syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immune reconstitution inflammatory syndrome MONDO:0100193 chronic liver failure ICD10CM:K72.1 MONDO:equivalentTo Chronic hepatic failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym end stage liver disorder @@ -1527,8 +1526,8 @@ MONDO:0100428 progressive bulbar palsy of childhood ICD10CM:G12.1 MONDO:equivale MONDO:0100464 acid sphingomyelinase deficiency ICD10CM:E75.24 MONDO:equivalentTo Niemann-Pick disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acid sphingomyelinase deficiency MONDO:0100471 vitamin D deficiency ICD10CM:E55.9 MONDO:equivalentTo Vitamin D deficiency, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym avitaminosis d MONDO:0400006 botryomycosis ICD10CM:L08.81 MONDO:equivalentTo Pyoderma vegetans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyoderma vegetans -MONDO:0500000 episodic angioedema with eosinophilia ICD10CM:D72.118 MONDO:equivalentTo Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gleichs syndrome MONDO:0500000 episodic angioedema with eosinophilia ICD10CM:D72.118 MONDO:equivalentTo Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic angioedema with eosinophilia +MONDO:0500000 episodic angioedema with eosinophilia ICD10CM:D72.118 MONDO:equivalentTo Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gleichs syndrome MONDO:0600025 hydrosalpinx ICD10CM:N70.1 MONDO:equivalentTo Chronic salpingitis and oophoritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydrosalpinx MONDO:0700051 liver abscess (disease) ICD10CM:K75.0 MONDO:equivalentTo Abscess of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abscess of liver MONDO:0700052 intersphincteric abscess ICD10CM:K61.4 MONDO:equivalentTo Intrasphincteric abscess semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intersphincteric abscess diff --git a/src/ontology/lexmatch/unmapped_icd_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd_lex_exact.tsv index 1b1e4d4a..d1cf7c6e 100644 --- a/src/ontology/lexmatch/unmapped_icd_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd_lex_exact.tsv @@ -123,8 +123,8 @@ MONDO:0004585 polyhydramnios ICD10CM:O40 MONDO:equivalentTo Polyhydramnios semap MONDO:0004592 impetigo ICD10CM:L01.0 MONDO:equivalentTo Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo MONDO:0004600 monocytic leukemia ICD10CM:C93 MONDO:equivalentTo Monocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytic leukemia MONDO:0004643 myeloid leukemia ICD10CM:C92 MONDO:equivalentTo Myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid leukemia -MONDO:0004648 vascular dementia ICD10CM:F01.5 MONDO:equivalentTo Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia MONDO:0004648 vascular dementia ICD10CM:F01 MONDO:equivalentTo Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia +MONDO:0004648 vascular dementia ICD10CM:F01.5 MONDO:equivalentTo Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia MONDO:0004686 lattice corneal dystrophy ICD10CM:H18.54 MONDO:equivalentTo Lattice corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lattice corneal dystrophy MONDO:0004706 discoid lupus erythematosus of eyelid ICD10CM:H01.12 MONDO:equivalentTo Discoid lupus erythematosus of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus of eyelid MONDO:0004718 xeroderma of eyelid ICD10CM:H01.14 MONDO:equivalentTo Xeroderma of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma of eyelid diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv index 13f45ed0..50e5eea7 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv @@ -5,6 +5,7 @@ MONDO:0000426 autosomal dominant disease NCIT:C98829 MONDO:equivalentTo Autosoma MONDO:0000705 Clostridium difficile colitis NCIT:C180523 MONDO:equivalentTo Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection MONDO:0000831 thrombotic disease NCIT:C180553 MONDO:equivalentTo Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 NCIT:C176008 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 13 +MONDO:0000992 heart conduction disease NCIT:C78245 MONDO:equivalentTo Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder MONDO:0001061 pylorus cancer NCIT:C188051 MONDO:equivalentTo Malignant Pylorus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant pylorus neoplasm MONDO:0001172 salpingo-oophoritis NCIT:C126462 MONDO:equivalentTo Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess MONDO:0001243 disseminated intravascular coagulation NCIT:C131658 MONDO:equivalentTo Consumptive Coagulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label consumptive coagulopathy @@ -34,7 +35,6 @@ MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant MONDO:0004957 mucinous adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0005004 clear cell adenocarcinoma NCIT:C4156 MONDO:equivalentTo Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma MONDO:0005011 Crohn disease NCIT:C37262 MONDO:equivalentTo Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia NCIT:C2872 MONDO:equivalentTo Refractory Anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia MONDO:0005297 urethritis NCIT:C27079 MONDO:equivalentTo Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis MONDO:0005342 IgA glomerulonephritis NCIT:C35280 MONDO:equivalentTo Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis MONDO:0005486 tooth agenesis NCIT:C171426 MONDO:equivalentTo Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia @@ -50,7 +50,6 @@ MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma s MONDO:0006717 cutaneous fibrous histiocytoma NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm MONDO:0007078 pseudohypoparathyroidism type 1A NCIT:C118434 MONDO:equivalentTo Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy MONDO:0007103 amyotrophic lateral sclerosis type 1 NCIT:C168749 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 -MONDO:0007356 Lynch syndrome 1 NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 1 syndrome MONDO:0007751 hypercholesterolemia, autosomal dominant, type B NCIT:C176014 MONDO:equivalentTo Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 MONDO:0007906 familial partial lipodystrophy, Dunnigan type NCIT:C165527 MONDO:equivalentTo Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 MONDO:0007967 melanoma and neural system tumor syndrome NCIT:C176905 MONDO:equivalentTo Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome @@ -79,7 +78,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 NCIT:C181657 MONDO:equivalentTo Sp MONDO:0011951 amyotrophic lateral sclerosis type 6 NCIT:C168750 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia MONDO:0012077 amyotrophic lateral sclerosis type 8 NCIT:C168751 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 NCIT:C173471 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 -MONDO:0012249 Lynch syndrome 2 NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lynch type 2 syndrome MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 NCIT:C177248 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 MONDO:0012790 amyotrophic lateral sclerosis type 10 NCIT:C168752 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia MONDO:0012945 amyotrophic lateral sclerosis type 11 NCIT:C168753 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 @@ -158,9 +156,7 @@ MONDO:0100118 genetic skin disorder NCIT:C156032 MONDO:equivalentTo Genodermatos MONDO:0100233 long COVID-19 NCIT:C179263 MONDO:equivalentTo Post-Acute Sequelae of COVID-19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label post-acute sequelae of covid-19 MONDO:0100330 disease arising from reactivation of latent virus NCIT:C9494 MONDO:equivalentTo Latent Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label latent infection MONDO:0100344 Bartter disease type 1 NCIT:C178412 MONDO:equivalentTo Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 -MONDO:0700048 hand-foot syndrome NCIT:C27177 MONDO:equivalentTo Palmar-Plantar Erythrodysthesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmar-plantar erythrodysthesia MONDO:0700119 distal chromosome 18q deletion syndrome NCIT:C130986 MONDO:equivalentTo Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome MONDO:0700219 neoplastic meningitis NCIT:C27383 MONDO:equivalentTo Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis -MONDO:0700219 neoplastic meningitis NCIT:C3814 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Leptomeninges semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metastatic malignant neoplasm in the leptomeninges MONDO:0800029 interstitial lung disease 2 NCIT:C35715 MONDO:equivalentTo Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:8000006 WHIM syndrome 1 NCIT:C176819 MONDO:equivalentTo Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv index 1a3aebf9..6603e3a8 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv @@ -1,249 +1,8 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000159 bone marrow failure syndrome NCIT:C165614 MONDO:equivalentTo Bone Marrow Failure Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone marrow failure syndrome -MONDO:0000541 jejunal adenocarcinoma NCIT:C181158 MONDO:equivalentTo Jejunal Adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jejunal adenocarcinoma -MONDO:0000543 ovarian melanoma NCIT:C178441 MONDO:equivalentTo Ovarian Melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian melanoma -MONDO:0000665 apraxia NCIT:C180557 MONDO:equivalentTo Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia -MONDO:0000736 dyschromatosis universalis hereditaria NCIT:C173131 MONDO:equivalentTo Dyschromatosis Universalis Hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria -MONDO:0000770 shellfish allergy NCIT:C172320 MONDO:equivalentTo Shellfish Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shellfish allergy -MONDO:0000778 fruit allergy NCIT:C172316 MONDO:equivalentTo Fruit Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fruit allergy -MONDO:0000827 salmonellosis NCIT:C157974 MONDO:equivalentTo Salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salmonellosis -MONDO:0001133 malignant essential hypertension NCIT:C34802 MONDO:equivalentTo Malignant Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant essential hypertension -MONDO:0001165 tongue disorder NCIT:C173793 MONDO:equivalentTo Tongue Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tongue disorder -MONDO:0001172 salpingo-oophoritis NCIT:C171201 MONDO:equivalentTo Salpingo-Oophoritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salpingo-oophoritis -MONDO:0002021 gingival disorder NCIT:C173795 MONDO:equivalentTo Gingival Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival disorder -MONDO:0002119 ossifying fibroma NCIT:C173820 MONDO:equivalentTo Ossifying Fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossifying fibroma -MONDO:0003038 dysgraphia NCIT:C182452 MONDO:equivalentTo Dysgraphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysgraphia -MONDO:0003143 angiokeratoma NCIT:C2874 MONDO:equivalentTo Angiokeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma -MONDO:0004634 vein disorder NCIT:C35279 MONDO:equivalentTo Vein Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vein disorder -MONDO:0004795 otitis externa NCIT:C79601 MONDO:equivalentTo Otitis Externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa -MONDO:0005115 temporal lobe epilepsy NCIT:C177244 MONDO:equivalentTo Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporal lobe epilepsy -MONDO:0005283 retinal disorder NCIT:C26875 MONDO:equivalentTo Retinal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal disorder -MONDO:0005314 relapsing-remitting multiple sclerosis NCIT:C165675 MONDO:equivalentTo Relapsing-Remitting Multiple Sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing-remitting multiple sclerosis -MONDO:0005349 otosclerosis NCIT:C185242 MONDO:equivalentTo Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis -MONDO:0005446 cutaneous leishmaniasis NCIT:C34768 MONDO:equivalentTo Cutaneous Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis -MONDO:0005483 chemotherapy-induced alopecia NCIT:C164162 MONDO:equivalentTo Chemotherapy-Induced Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chemotherapy-induced alopecia -MONDO:0005672 blastomycosis NCIT:C34428 MONDO:equivalentTo Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis -MONDO:0005723 Cryptococcal meningitis NCIT:C174113 MONDO:equivalentTo Cryptococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcal meningitis -MONDO:0005965 spinal stenosis NCIT:C177444 MONDO:equivalentTo Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis -MONDO:0005988 toxocariasis NCIT:C85194 MONDO:equivalentTo Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis -MONDO:0006060 nasopharyngeal squamous cell carcinoma NCIT:C167265 MONDO:equivalentTo Nasopharyngeal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal squamous cell carcinoma -MONDO:0006490 vaginal squamous cell carcinoma NCIT:C180915 MONDO:equivalentTo Vaginal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal squamous cell carcinoma -MONDO:0006726 diaphragmatic eventration NCIT:C98912 MONDO:equivalentTo Diaphragmatic Eventration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic eventration -MONDO:0006890 parathyroid gland adenoma NCIT:C156757 MONDO:equivalentTo Parathyroid Gland Adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parathyroid gland adenoma -MONDO:0006913 pneumococcal meningitis NCIT:C157958 MONDO:equivalentTo Pneumococcal Meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis -MONDO:0006969 sialadenitis NCIT:C26882 MONDO:equivalentTo Sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialadenitis -MONDO:0006982 subacute thyroiditis NCIT:C35071 MONDO:equivalentTo Subacute Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 NCIT:C168756 MONDO:equivalentTo Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 -MONDO:0007110 Diamond-Blackfan anemia 1 NCIT:C176911 MONDO:equivalentTo Diamond-Blackfan Anemia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 1 -MONDO:0007160 Stickler syndrome type 1 NCIT:C168733 MONDO:equivalentTo Stickler Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007296 spinocerebellar ataxia type 31 NCIT:C176901 MONDO:equivalentTo Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 NCIT:C150609 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2a1 -MONDO:0007362 cone-rod dystrophy 2 NCIT:C162399 MONDO:equivalentTo Cone-Rod Dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone-rod dystrophy type 2 -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 NCIT:C176921 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 1 -MONDO:0007496 dystonia 12 NCIT:C157577 MONDO:equivalentTo Dystonia 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 12 -MONDO:0007589 exudative vitreoretinopathy 1 NCIT:C175048 MONDO:equivalentTo Exudative Vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exudative vitreoretinopathy type 1 -MONDO:0007621 Floating-Harbor syndrome NCIT:C175241 MONDO:equivalentTo Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome -MONDO:0007972 Meniere disease NCIT:C185243 MONDO:equivalentTo Meniere Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meniere disorder -MONDO:0007986 metatropic dysplasia NCIT:C175209 MONDO:equivalentTo Metatropic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia -MONDO:0008005 cardiospondylocarpofacial syndrome NCIT:C188216 MONDO:equivalentTo Cardiospondylocarpofacial Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 NCIT:C172704 MONDO:equivalentTo Facioscapulohumeral Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facioscapulohumeral muscular dystrophy type 1 -MONDO:0008038 ataxia-pancytopenia syndrome NCIT:C176909 MONDO:equivalentTo Ataxia-Pancytopenia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis NCIT:C178415 MONDO:equivalentTo Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome with genital anomalies and disordered steroidogenesis -MONDO:0008736 peroxisome biogenesis disorder 2B NCIT:C155751 MONDO:equivalentTo Peroxisome Biogenesis Disorder 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 2b -MONDO:0008742 autosomal dominant severe congenital neutropenia NCIT:C166155 MONDO:equivalentTo Autosomal Dominant Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia -MONDO:0008745 oculocutaneous albinism type 1A NCIT:C168731 MONDO:equivalentTo Oculocutaneous Albinism Type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a -MONDO:0008855 MHC class II deficiency NCIT:C176823 MONDO:equivalentTo MHC Class II Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class ii deficiency -MONDO:0008856 immunodeficiency 27A NCIT:C176806 MONDO:equivalentTo Immunodeficiency 27A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 27a -MONDO:0008858 Behr syndrome NCIT:C177251 MONDO:equivalentTo Behr Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome -MONDO:0008865 Bietti crystalline corneoretinal dystrophy NCIT:C179299 MONDO:equivalentTo Bietti Crystalline Corneoretinal Dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bietti crystalline corneoretinal dystrophy -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome NCIT:C174217 MONDO:equivalentTo Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 NCIT:C173085 MONDO:equivalentTo Cerebrooculofacioskeletal Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculofacioskeletal syndrome type 1 -MONDO:0009003 achromatopsia 2 NCIT:C168757 MONDO:equivalentTo Achromatopsia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia type 2 -MONDO:0009107 diastrophic dysplasia NCIT:C156311 MONDO:equivalentTo Diastrophic Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 NCIT:C176925 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 1 -MONDO:0009165 Aicardi-Goutieres syndrome 1 NCIT:C165501 MONDO:equivalentTo Aicardi-Goutieres Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 1 -MONDO:0009238 hereditary folate malabsorption NCIT:C156424 MONDO:equivalentTo Hereditary Folate Malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption -MONDO:0009484 primary ciliary dyskinesia 1 NCIT:C128117 MONDO:equivalentTo Primary Ciliary Dyskinesia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 1 -MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 NCIT:C176908 MONDO:equivalentTo Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 7 myelodysplasia and leukemia syndrome type 1 -MONDO:0009720 Keipert syndrome NCIT:C186306 MONDO:equivalentTo Keipert Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009815 autosomal recessive osteopetrosis 1 NCIT:C167215 MONDO:equivalentTo Autosomal Recessive Osteopetrosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive osteopetrosis type 1 -MONDO:0009901 Bartsocas-Papas syndrome NCIT:C168990 MONDO:equivalentTo Bartsocas-Papas Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartsocas-papas syndrome -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NCIT:C170437 MONDO:equivalentTo Peroxisomal Acyl-CoA Oxidase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency -MONDO:0010201 Winchester syndrome NCIT:C170731 MONDO:equivalentTo Winchester Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label winchester syndrome -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia NCIT:C126336 MONDO:equivalentTo X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010457 Ogden syndrome NCIT:C188215 MONDO:equivalentTo Ogden Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome -MONDO:0010476 neurodegeneration with brain iron accumulation 5 NCIT:C175210 MONDO:equivalentTo Neurodegeneration with Brain Iron Accumulation 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 5 -MONDO:0010507 Xq25 microduplication syndrome NCIT:C177544 MONDO:equivalentTo Xq25 Microduplication Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome -MONDO:0010515 Meester-Loeys syndrome NCIT:C187989 MONDO:equivalentTo Meester-Loeys Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meester-loeys syndrome -MONDO:0010595 Sertoli cell-only syndrome NCIT:C168988 MONDO:equivalentTo Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sertoli cell-only syndrome -MONDO:0010619 X-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:equivalentTo X-Linked Dominant Hypophosphatemic Rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant hypophosphatemic rickets -MONDO:0010653 Renpenning syndrome NCIT:C165533 MONDO:equivalentTo Renpenning Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome -MONDO:0010743 thrombocytopenia 1 NCIT:C176617 MONDO:equivalentTo Thrombocytopenia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia type 1 -MONDO:0010896 pigment dispersion syndrome NCIT:C187288 MONDO:equivalentTo Pigment Dispersion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigment dispersion syndrome -MONDO:0010909 UV-sensitive syndrome 1 NCIT:C173106 MONDO:equivalentTo UV-Sensitive Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 1 -MONDO:0011101 peroxisome biogenesis disorder 1B NCIT:C155749 MONDO:equivalentTo Peroxisome Biogenesis Disorder 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 1b -MONDO:0011125 trichothiodystrophy 1, photosensitive NCIT:C156433 MONDO:equivalentTo Trichothiodystrophy 1, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 1, photosensitive -MONDO:0011264 torsion dystonia 6 NCIT:C156361 MONDO:equivalentTo Torsion Dystonia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsion dystonia type 6 -MONDO:0011405 poikiloderma with neutropenia NCIT:C177535 MONDO:equivalentTo Poikiloderma with Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia -MONDO:0011479 postural orthostatic tachycardia syndrome NCIT:C85020 MONDO:equivalentTo Postural Orthostatic Tachycardia Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postural orthostatic tachycardia syndrome -MONDO:0011531 Noonan syndrome 2 NCIT:C176930 MONDO:equivalentTo Noonan Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 2 -MONDO:0011583 cerebral amyloid angiopathy, APP-related NCIT:C157147 MONDO:equivalentTo Cerebral Amyloid Angiopathy, APP-Related semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy, app-related -MONDO:0011652 Phelan-McDermid syndrome NCIT:C157124 MONDO:equivalentTo Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phelan-mcdermid syndrome -MONDO:0011713 melanoma-pancreatic cancer syndrome NCIT:C176904 MONDO:equivalentTo Melanoma-Pancreatic Cancer Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma-pancreatic cancer syndrome -MONDO:0011732 familial digital arthropathy-brachydactyly NCIT:C175208 MONDO:equivalentTo Familial Digital Arthropathy-Brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly -MONDO:0011781 spinocerebellar ataxia type 17 NCIT:C179861 MONDO:equivalentTo Spinocerebellar Ataxia Type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 -MONDO:0011784 Moyamoya disease 2 NCIT:C183312 MONDO:equivalentTo Moyamoya Disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disorder type 2 -MONDO:0011819 spinocerebellar ataxia type 19/22 NCIT:C163756 MONDO:equivalentTo Spinocerebellar Ataxia Type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair NCIT:C178129 MONDO:equivalentTo Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome NCIT:C179668 MONDO:equivalentTo Capillary Malformation-Arteriovenous Malformation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label capillary malformation-arteriovenous malformation syndrome -MONDO:0012085 primary ciliary dyskinesia 3 NCIT:C172392 MONDO:equivalentTo Primary Ciliary Dyskinesia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 3 -MONDO:0012105 granulomatosis with polyangiitis NCIT:C3444 MONDO:equivalentTo Granulomatosis with Polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis -MONDO:0012240 nemaline myopathy 4 NCIT:C164225 MONDO:equivalentTo Nemaline Myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy type 4 -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 NCIT:C178393 MONDO:equivalentTo Rhabdoid Tumor Predisposition Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 1 -MONDO:0012371 Noonan syndrome 3 NCIT:C176931 MONDO:equivalentTo Noonan Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 3 -MONDO:0012429 Aicardi-Goutieres syndrome 2 NCIT:C165673 MONDO:equivalentTo Aicardi-Goutieres Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 2 -MONDO:0012435 3-methylglutaconic aciduria type 5 NCIT:C173146 MONDO:equivalentTo 3-Methylglutaconic Aciduria Type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 5 -MONDO:0012518 congenital myasthenic syndrome 12 NCIT:C168997 MONDO:equivalentTo Congenital Myasthenic Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome type 12 -MONDO:0012529 Diamond-Blackfan anemia 3 NCIT:C176912 MONDO:equivalentTo Diamond-Blackfan Anemia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 3 -MONDO:0012547 Noonan syndrome 4 NCIT:C176932 MONDO:equivalentTo Noonan Syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 4 -MONDO:0012590 XFE progeroid syndrome NCIT:C173111 MONDO:equivalentTo XFE Progeroid Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xfe progeroid syndrome -MONDO:0012669 Legius syndrome NCIT:C176941 MONDO:equivalentTo Legius Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome -MONDO:0012690 Noonan syndrome 5 NCIT:C176933 MONDO:equivalentTo Noonan Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 5 -MONDO:0012694 Joubert syndrome 7 NCIT:C159653 MONDO:equivalentTo Joubert Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 7 -MONDO:0012789 dystonia 16 NCIT:C168729 MONDO:equivalentTo Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 16 -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 NCIT:C176826 MONDO:equivalentTo Ectodermal Dysplasia and Immunodeficiency 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 2 -MONDO:0012849 Joubert syndrome 9 NCIT:C181002 MONDO:equivalentTo Joubert Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 9 -MONDO:0012924 Diamond-Blackfan anemia 4 NCIT:C176913 MONDO:equivalentTo Diamond-Blackfan Anemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 4 -MONDO:0012925 Diamond-Blackfan anemia 5 NCIT:C176914 MONDO:equivalentTo Diamond-Blackfan Anemia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 5 -MONDO:0012937 Diamond-Blackfan anemia 6 NCIT:C176915 MONDO:equivalentTo Diamond-Blackfan Anemia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 6 -MONDO:0012938 Diamond-Blackfan anemia 7 NCIT:C176916 MONDO:equivalentTo Diamond-Blackfan Anemia 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 7 -MONDO:0012939 Diamond-Blackfan anemia 8 NCIT:C176917 MONDO:equivalentTo Diamond-Blackfan Anemia 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 8 -MONDO:0013153 inflammatory bowel disease 28 NCIT:C164676 MONDO:equivalentTo Inflammatory Bowel Disease 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disorder type 28 -MONDO:0013171 purine nucleoside phosphorylase deficiency NCIT:C176817 MONDO:equivalentTo Purine Nucleoside Phosphorylase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013186 Noonan syndrome 6 NCIT:C176934 MONDO:equivalentTo Noonan Syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 6 -MONDO:0013216 Diamond-Blackfan anemia 9 NCIT:C176918 MONDO:equivalentTo Diamond-Blackfan Anemia 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 9 -MONDO:0013217 Diamond-Blackfan anemia 10 NCIT:C176919 MONDO:equivalentTo Diamond-Blackfan Anemia 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 10 -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 NCIT:C178394 MONDO:equivalentTo Rhabdoid Tumor Predisposition Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor predisposition syndrome type 2 -MONDO:0013252 Warsaw breakage syndrome NCIT:C164675 MONDO:equivalentTo Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome -MONDO:0013270 Rett syndrome, congenital variant NCIT:C176903 MONDO:equivalentTo Rett Syndrome, Congenital Variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome, congenital variant -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NCIT:C174439 MONDO:equivalentTo Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency -MONDO:0013372 long QT syndrome 5 NCIT:C172094 MONDO:equivalentTo Long QT Syndrome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 5 -MONDO:0013379 Noonan syndrome 7 NCIT:C176935 MONDO:equivalentTo Noonan Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 7 -MONDO:0013434 primary ciliary dyskinesia 14 NCIT:C148370 MONDO:equivalentTo Primary Ciliary Dyskinesia 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 14 -MONDO:0013435 primary ciliary dyskinesia 15 NCIT:C155999 MONDO:equivalentTo Primary Ciliary Dyskinesia 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 15 -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 NCIT:C176926 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 2 -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 NCIT:C176927 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 3 -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 NCIT:C176922 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 2 -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 NCIT:C176923 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 3 -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 NCIT:C176896 MONDO:equivalentTo Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 1 -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 NCIT:C168989 MONDO:equivalentTo Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 2 -MONDO:0013674 neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:equivalentTo Neurodegeneration with Brain Iron Accumulation 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation type 4 -MONDO:0013779 Wiskott-Aldrich syndrome 2 NCIT:C176820 MONDO:equivalentTo Wiskott-Aldrich Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome type 2 -MONDO:0013824 Joubert syndrome 17 NCIT:C175702 MONDO:equivalentTo Joubert Syndrome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome type 17 -MONDO:0013829 UV-sensitive syndrome 2 NCIT:C173110 MONDO:equivalentTo UV-Sensitive Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 2 -MONDO:0013834 UV-sensitive syndrome 3 NCIT:C173107 MONDO:equivalentTo UV-Sensitive Syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome type 3 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 NCIT:C183529 MONDO:equivalentTo Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brown-vialetto-van laere syndrome type 2 -MONDO:0013898 karyomegalic interstitial nephritis NCIT:C173626 MONDO:equivalentTo Karyomegalic Interstitial Nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis -MONDO:0013939 peroxisome biogenesis disorder 7B NCIT:C155761 MONDO:equivalentTo Peroxisome Biogenesis Disorder 7B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 7b -MONDO:0013943 peroxisome biogenesis disorder 8B NCIT:C155763 MONDO:equivalentTo Peroxisome Biogenesis Disorder 8B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 8b -MONDO:0013964 Diamond-Blackfan anemia 11 NCIT:C176920 MONDO:equivalentTo Diamond-Blackfan Anemia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 11 -MONDO:0014042 left ventricular noncompaction 7 NCIT:C157266 MONDO:equivalentTo Left Ventricular Noncompaction 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction type 7 -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 NCIT:C176928 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 5 -MONDO:0014143 Noonan syndrome 8 NCIT:C176936 MONDO:equivalentTo Noonan Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 8 -MONDO:0014198 mitochondrial DNA depletion syndrome 13 NCIT:C172095 MONDO:equivalentTo Mitochondrial DNA Depletion Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome type 13 -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency NCIT:C157504 MONDO:equivalentTo Myopathy due to Myoadenylate Deaminase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy due to myoadenylate deaminase deficiency -MONDO:0014367 Aicardi-Goutieres syndrome 7 NCIT:C168585 MONDO:equivalentTo Aicardi-Goutieres Syndrome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi-goutieres syndrome type 7 -MONDO:0014378 primary ciliary dyskinesia 29 NCIT:C172393 MONDO:equivalentTo Primary Ciliary Dyskinesia 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia type 29 -MONDO:0014548 long QT syndrome 14 NCIT:C177534 MONDO:equivalentTo Long QT Syndrome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 14 -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 NCIT:C176929 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal recessive type 6 -MONDO:0014615 trichothiodystrophy 2, photosensitive NCIT:C173103 MONDO:equivalentTo Trichothiodystrophy 2, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 2, photosensitive -MONDO:0014619 trichothiodystrophy 3, photosensitive NCIT:C173099 MONDO:equivalentTo Trichothiodystrophy 3, Photosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 3, photosensitive -MONDO:0014659 infantile liver failure syndrome 2 NCIT:C158135 MONDO:equivalentTo Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile liver failure syndrome type 2 -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 NCIT:C176924 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, autosomal dominant type 6 -MONDO:0014691 Noonan syndrome 9 NCIT:C176937 MONDO:equivalentTo Noonan Syndrome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 9 -MONDO:0014693 Noonan syndrome 10 NCIT:C176938 MONDO:equivalentTo Noonan Syndrome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 10 -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y NCIT:C168974 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disorder type 2y -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y NCIT:C181000 MONDO:equivalentTo Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2y MONDO:0015265 bronchiolitis obliterans syndrome NCIT:C184957 MONDO:equivalentTo Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome -MONDO:0015403 non-involuting congenital hemangioma NCIT:C172208 MONDO:equivalentTo Non-Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma -MONDO:0015404 rapidly involuting congenital hemangioma NCIT:C172207 MONDO:equivalentTo Rapidly Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma -MONDO:0015766 cholera NCIT:C157812 MONDO:equivalentTo Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss NCIT:C158788 MONDO:equivalentTo Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss -MONDO:0015925 interstitial lung disease NCIT:C164315 MONDO:equivalentTo Interstitial Lung Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disorder -MONDO:0015967 monogenic diabetes NCIT:C129739 MONDO:equivalentTo Monogenic Diabetes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monogenic diabetes -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex NCIT:C156031 MONDO:equivalentTo Xeroderma Pigmentosum-Cockayne Syndrome Complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex -MONDO:0016368 Rothmund-Thomson syndrome type 1 NCIT:C178826 MONDO:equivalentTo Rothmund-Thomson Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 -MONDO:0016369 Rothmund-Thomson syndrome type 2 NCIT:C178827 MONDO:equivalentTo Rothmund-Thomson Syndrome Type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 -MONDO:0017571 Proteus-like syndrome NCIT:C179930 MONDO:equivalentTo Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma NCIT:C178541 MONDO:equivalentTo Aggressive B-Cell Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma -MONDO:0017623 PTEN hamartoma tumor syndrome NCIT:C179915 MONDO:equivalentTo PTEN Hamartoma Tumor Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome -MONDO:0017648 Sydenham chorea NCIT:C168445 MONDO:equivalentTo Sydenham Chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea -MONDO:0017776 nocardiosis NCIT:C171147 MONDO:equivalentTo Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach NCIT:C172989 MONDO:equivalentTo Gastric Adenocarcinoma and Proximal Polyposis of the Stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach -MONDO:0017842 Senior-Loken syndrome NCIT:C168588 MONDO:equivalentTo Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma NCIT:C157718 MONDO:equivalentTo Acquired Cystic Disease-Associated Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disorder-associated renal cell carcinoma -MONDO:0018542 severe congenital neutropenia NCIT:C166152 MONDO:equivalentTo Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium NCIT:C174548 MONDO:equivalentTo Combined Hamartoma of the Retina and Retinal Pigment Epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium -MONDO:0018613 AH amyloidosis NCIT:C158962 MONDO:equivalentTo AH Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis -MONDO:0018716 partially involuting congenital hemangioma NCIT:C172209 MONDO:equivalentTo Partially Involuting Congenital Hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma -MONDO:0018920 peripartum cardiomyopathy NCIT:C171602 MONDO:equivalentTo Peripartum Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy -MONDO:0018989 recurrent acute pancreatitis NCIT:C184324 MONDO:equivalentTo Recurrent Acute Pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent acute pancreatitis -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 NCIT:C165500 MONDO:equivalentTo Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 2 -MONDO:0019234 peroxisome biogenesis disorder NCIT:C155747 MONDO:equivalentTo Peroxisome Biogenesis Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder -MONDO:0019288 skin pigmentation disorder NCIT:C34557 MONDO:equivalentTo Skin Pigmentation Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin pigmentation disorder -MONDO:0019345 shigellosis NCIT:C157978 MONDO:equivalentTo Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019438 AL amyloidosis NCIT:C158963 MONDO:equivalentTo AL Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis -MONDO:0019631 persistent hyperplastic primary vitreous NCIT:C161554 MONDO:equivalentTo Persistent Hyperplastic Primary Vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous -MONDO:0019729 light and heavy chain deposition disease NCIT:C158965 MONDO:equivalentTo Light and Heavy Chain Deposition Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disorder -MONDO:0019929 49,XXXXY syndrome NCIT:C185635 MONDO:equivalentTo 49,XXXXY Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome -MONDO:0019991 immunotactoid glomerulopathy NCIT:C158968 MONDO:equivalentTo Immunotactoid Glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy -MONDO:0020492 hemimegalencephaly NCIT:C177779 MONDO:equivalentTo Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly -MONDO:0020516 thymic neuroendocrine carcinoma NCIT:C171031 MONDO:equivalentTo Thymic Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma -MONDO:0020645 autosomal dominant osteopetrosis NCIT:C129732 MONDO:equivalentTo Autosomal Dominant Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant osteopetrosis -MONDO:0020712 46,XY sex reversal 1 NCIT:C128188 MONDO:equivalentTo 46,XY Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy sex reversal type 1 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 NCIT:C176592 MONDO:equivalentTo Ectodermal Dysplasia and Immunodeficiency 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia and immunodeficiency type 1 -MONDO:0021632 primary brain neoplasm NCIT:C170814 MONDO:equivalentTo Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary brain neoplasm -MONDO:0022394 cervical intraepithelial neoplasia NCIT:C3782 MONDO:equivalentTo Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical intraepithelial neoplasia -MONDO:0023597 laryngeal papillomatosis NCIT:C157733 MONDO:equivalentTo Laryngeal Papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal papillomatosis -MONDO:0026777 VEXAS syndrome NCIT:C181924 MONDO:equivalentTo VEXAS Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome -MONDO:0028226 autosomal recessive severe congenital neutropenia NCIT:C176624 MONDO:equivalentTo Autosomal Recessive Severe Congenital Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay NCIT:C179868 MONDO:equivalentTo Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 NCIT:C176608 MONDO:equivalentTo Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 -MONDO:0032786 Noonan syndrome 11 NCIT:C177119 MONDO:equivalentTo Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 11 -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive NCIT:C173102 MONDO:equivalentTo Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy type 7, nonphotosensitive -MONDO:0032839 noonan syndrome 12 NCIT:C177120 MONDO:equivalentTo Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 12 -MONDO:0033669 Noonan syndrome 13 NCIT:C177121 MONDO:equivalentTo Noonan Syndrome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome type 13 -MONDO:0033821 fungal keratitis NCIT:C128370 MONDO:equivalentTo Fungal Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis -MONDO:0033954 monoclonal mast cell activation syndrome NCIT:C181652 MONDO:equivalentTo Monoclonal Mast Cell Activation Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome -MONDO:0035450 aprosencephaly NCIT:C98824 MONDO:equivalentTo Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly -MONDO:0035737 acquired factor V deficiency NCIT:C131624 MONDO:equivalentTo Acquired Factor V Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency -MONDO:0035738 acquired factor VII deficiency NCIT:C131625 MONDO:equivalentTo Acquired Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency -MONDO:0035740 acquired factor XI deficiency NCIT:C131627 MONDO:equivalentTo Acquired Factor XI Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency -MONDO:0043300 actinic cheilitis NCIT:C183562 MONDO:equivalentTo Actinic Cheilitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic cheilitis -MONDO:0043726 multiple organ dysfunction syndrome NCIT:C179648 MONDO:equivalentTo Multiple Organ Dysfunction Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple organ dysfunction syndrome -MONDO:0044753 lumbar spinal stenosis NCIT:C177445 MONDO:equivalentTo Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lumbar spinal stenosis -MONDO:0045050 nuclear cataract NCIT:C135176 MONDO:equivalentTo Nuclear Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nuclear cataract -MONDO:0045051 cortical cataract NCIT:C135177 MONDO:equivalentTo Cortical Cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical cataract -MONDO:0045057 delirium NCIT:C2981 MONDO:equivalentTo Delirium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delirium -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 NCIT:C176940 MONDO:equivalentTo Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 2 -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 NCIT:C176939 MONDO:equivalentTo Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 -MONDO:0054677 combined oxidative phosphorylation deficiency 33 NCIT:C174440 MONDO:equivalentTo Combined Oxidative Phosphorylation Deficiency 33 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation deficiency type 33 -MONDO:0054697 immunodeficiency 11b with atopic dermatitis NCIT:C176630 MONDO:equivalentTo Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 11b with atopic dermatitis -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 NCIT:C176619 MONDO:equivalentTo Proteasome-Associated Autoinflammatory Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteasome-associated autoinflammatory syndrome type 1 -MONDO:0100137 telomere syndrome NCIT:C152065 MONDO:equivalentTo Telomere Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telomere syndrome -MONDO:0100250 46,XX sex reversal 1 NCIT:C179867 MONDO:equivalentTo 46,XX Sex Reversal 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx sex reversal type 1 -MONDO:0100285 extrahepatic biliary atresia NCIT:C97069 MONDO:equivalentTo Extrahepatic Biliary Atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic biliary atresia -MONDO:0100482 extensively drug-resistant tuberculosis NCIT:C128417 MONDO:equivalentTo Extensively Drug-Resistant Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensively drug-resistant tuberculosis -MONDO:0700058 Morton neuroma NCIT:C4075 MONDO:equivalentTo Morton Neuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morton neuroma -MONDO:0700082 Robertsonian translocation Down syndrome NCIT:C188150 MONDO:equivalentTo Robertsonian Translocation Down Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robertsonian translocation down syndrome -MONDO:0700092 neurodevelopmental disorder NCIT:C89338 MONDO:equivalentTo Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder MONDO:0700217 neonatal sepsis NCIT:C116802 MONDO:equivalentTo Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis -MONDO:0700218 group B streptococcal infection NCIT:C87168 MONDO:equivalentTo Group B Streptococcal Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label group b streptococcal infection MONDO:0700226 food allergy NCIT:C172304 MONDO:equivalentTo Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy -MONDO:0800106 disruptive behavior disorder NCIT:C99753 MONDO:equivalentTo Disruptive Behavior Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disruptive behavior disorder -MONDO:0800113 necrotizing vasculitis NCIT:C70635 MONDO:equivalentTo Necrotizing Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing vasculitis -MONDO:0800133 pulmonary hypoplasia NCIT:C99035 MONDO:equivalentTo Pulmonary Hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypoplasia MONDO:0850046 amniotic fluid embolism NCIT:C111911 MONDO:equivalentTo Amniotic Fluid Embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism MONDO:0850110 melanoma in congenital melanocytic nevus NCIT:C48613 MONDO:equivalentTo Melanoma in Congenital Melanocytic Nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma in congenital melanocytic nevus MONDO:0850112 breast implant-associated anaplastic large cell lymphoma NCIT:C139012 MONDO:equivalentTo Breast Implant-Associated Anaplastic Large Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 1355dcfc..79e48d9d 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -1,12 +1,10 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant +MONDO:0011751 COPD, severe early onset OMIM:606963 MONDO:equivalentTo pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary disorder, chronic obstructive, severe early-onset +MONDO:0011751 COPD, severe early onset OMIM:606963 MONDO:equivalentTo pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd, severe early-onset MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder -MONDO:0030983 Waardenburg syndrome, IIa 2F OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome, iia type 2f -MONDO:0031045 arthrogryposis, distal, IIa 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis, distal, iia type 11 -MONDO:0031047 stickler syndrome, IIa 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome, iia type 6 -MONDO:0031061 nephrotic syndrome, IIa 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome, iia type 26 -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, iia type 2ii -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disorder, axonal, iia type 2ii -MONDO:0031068 charcot-marie-tooth disease, axonal,IIa 2II OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, iia type 2ii -MONDO:0031084 amelogenesis imperfecta, IIa 1K OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta, iia type 1k +MONDO:0018582 GCGR-related hyperglucagonemia OMIM:619290 MONDO:equivalentTo mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 OMIM:606215 MONDO:equivalentTo atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index 75acda0c..1361a626 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,34 +1,3 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0030805 spinocerebellar ataxia 49 OMIM:619806 MONDO:equivalentTo spinocerebellar ataxia 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 -MONDO:0030957 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 103 -MONDO:0030958 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia type 35, childhood-onset -MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 67 -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 76 -MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal dominant type 68 -MONDO:0030970 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 106, susceptibility to viral infections -MONDO:0030972 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 74 -MONDO:0030975 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ovarian failure type 20 -MONDO:0030984 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 75 -MONDO:0031019 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia type 87, autosomal recessive -MONDO:0031021 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 104 -MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 105 with hypopituitarism -MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency type 107, susceptibility to invasive staphylococcus aureus infection -MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder, autosomal recessive type 77 -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis, progressive familial intrahepatic, type 12 -MONDO:0031043 lymphatic malformation 12 OMIM:620014 MONDO:equivalentTo lymphatic malformation 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphatic malformation type 12 -MONDO:0031044 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label advance sleep phase syndrome, familial, type 4 -MONDO:0031052 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 106 -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliary dyskinesia, primary, type 48, without situs inversus -MONDO:0031055 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 107 -MONDO:0031057 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita, digenic -MONDO:0031060 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly type 29, primary, autosomal recessive -MONDO:0031062 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disorder type 7 -MONDO:0031071 diamond-blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 21 -MONDO:0031077 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 76 -MONDO:0031083 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 77 -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis, nonsyndromic, susceptibility to -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM:620062 MONDO:equivalentTo developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with short stature, dysmorphic facial features, and sparse hair type 2 -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 OMIM:619941 MONDO:equivalentTo carey-fineman-ziter syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome type 2 -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities OMIM:619733 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy and brain white matter abnormalities -MONDO:0851095 KINSSHIP syndrome OMIM:619297 MONDO:equivalentTo kinsship syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kinsship syndrome +MONDO:0020290 atrioventricular septal defect OMIM:606215 MONDO:equivalentTo atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 1c40861c..b8742484 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,17 +1,10 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma -MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma -MONDO:0009424 Bartter disease type 2 Orphanet:620220 MONDO:equivalentTo Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 -MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome -MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome -MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome -MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome MONDO:0030805 spinocerebellar ataxia 49 Orphanet:631106 MONDO:equivalentTo Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 MONDO:0031002 Baralle-Macken syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome MONDO:0032526 spinocerebellar ataxia 48 Orphanet:631103 MONDO:equivalentTo Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 MONDO:0033479 spinocerebellar ataxia 44 Orphanet:631095 MONDO:equivalentTo Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 -MONDO:0100344 Bartter disease type 1 Orphanet:620217 MONDO:equivalentTo Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 MONDO:0851095 KINSSHIP syndrome Orphanet:632603 MONDO:equivalentTo Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome +MONDO:0859150 BDV syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome diff --git a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv index a3c03bd8..e4344616 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv @@ -1,64 +1,3 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002687 superior mesenteric artery syndrome Orphanet:622099 MONDO:equivalentTo Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Orphanet:435930 MONDO:equivalentTo Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0020640 autoimmune encephalitis Orphanet:622014 MONDO:equivalentTo Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis -MONDO:0021107 narcolepsy Orphanet:619284 MONDO:equivalentTo Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:617916 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0030073 Mitchell syndrome Orphanet:631248 MONDO:equivalentTo Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome -MONDO:0044877 paraneoplastic cerebellar degeneration Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration -MONDO:0100115 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations -MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia -MONDO:0850010 congenital optic disc excavation Orphanet:519333 MONDO:equivalentTo Congenital optic disc excavation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital optic disc excavation -MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence -MONDO:0850014 twin-reversed arterial perfusion sequence Orphanet:617297 MONDO:equivalentTo Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence -MONDO:0850015 selective intrauterine growth restriction Orphanet:617301 MONDO:equivalentTo Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction -MONDO:0850030 complete hemimelia Orphanet:498491 MONDO:equivalentTo Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia -MONDO:0850046 amniotic fluid embolism Orphanet:617304 MONDO:equivalentTo Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850048 classic eosinophilic pustular folliculitis Orphanet:617408 MONDO:equivalentTo Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis -MONDO:0850049 painful legs and moving toes syndrome Orphanet:617440 MONDO:equivalentTo Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome Orphanet:617449 MONDO:equivalentTo Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -MONDO:0850053 F12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome -MONDO:0850054 hemophilia B leyden Orphanet:617930 MONDO:equivalentTo Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency Orphanet:618891 MONDO:equivalentTo Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome -MONDO:0850064 inherited hematologic cancer-predisposing syndrome Orphanet:619340 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Orphanet:619363 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disorder with increased il18 -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency -MONDO:0850070 CADINS disease Orphanet:619972 MONDO:equivalentTo CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disorder -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -MONDO:0850072 non-syndromic unisutural craniosynostosis Orphanet:620096 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis -MONDO:0850073 non-syndromic unicoronal craniosynostosis Orphanet:620102 MONDO:equivalentTo Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis -MONDO:0850074 non-syndromic unilambdoid craniosynostosis Orphanet:620113 MONDO:equivalentTo Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis Orphanet:620139 MONDO:equivalentTo Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis -MONDO:0850076 non-syndromic unisquamosal craniosynostosis Orphanet:620146 MONDO:equivalentTo Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis -MONDO:0850077 non-syndromic multisutural craniosynostosis Orphanet:620152 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis Orphanet:620158 MONDO:equivalentTo Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis -MONDO:0850079 non-syndromic bilambdoid craniosynostosis Orphanet:620178 MONDO:equivalentTo Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis Orphanet:620186 MONDO:equivalentTo Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis Orphanet:620192 MONDO:equivalentTo Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis Orphanet:620198 MONDO:equivalentTo Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis Orphanet:620205 MONDO:equivalentTo Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis -MONDO:0850084 non-syndromic pansynostosis Orphanet:620212 MONDO:equivalentTo Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:621758 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia Orphanet:622934 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia -MONDO:0850097 autoimmune limbic encephalitis Orphanet:623615 MONDO:equivalentTo Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia Orphanet:623695 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia -MONDO:0850100 body integrity dysphoria Orphanet:623789 MONDO:equivalentTo Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies Orphanet:624166 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies Orphanet:624178 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies -MONDO:0850104 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies Orphanet:624199 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies Orphanet:624216 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies -MONDO:0850107 postinfectious cerebellitis Orphanet:624244 MONDO:equivalentTo Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies Orphanet:624259 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies Orphanet:624268 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome Orphanet:99704 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index f5de6ece..8bdcdd6d 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 2, "ontology_anno_count": 10, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 48fa5d23..007bab71 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 93464919..5c3ba1c0 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 604da7a7..c6e7c4c6 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 75fea77e..078c4504 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 6, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 32cf9bb9..eeea3ab4 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-28/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 8bfcfefb..1dcd8483 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,114 +1,52 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0050192 Nipah virus encephalitis False False False +DOID:0060018 CD3gamma deficiency False False False DOID:0060034 dropped head syndrome False False False -DOID:0060042 atypical autism False False False -DOID:0060204 amyotrophic lateral sclerosis type 13 False False False DOID:0070020 autosomal dominant dyskeratosis congenita 4 False False False -DOID:0070141 autosomal recessive cutis laxa type II classic type False False False +DOID:0070136 autosomal dominant cutis laxa 2 False False False DOID:0070212 hereditary lymphedema I False False False -DOID:0070306 post-cardiac arrest syndrome False False False -DOID:0070309 absence epilepsy False False False DOID:0070310 drug-induced hearing loss False False False DOID:0070311 oligoasthenoteratozoospermia False False False -DOID:0070326 spitzoid melanoma False False False -DOID:0070327 melanoma in congenital melanocytic nevus False False False DOID:0070331 mitochondrial DNA depletion syndrome 8b False False False -DOID:0070333 breast implant-associated anaplastic large cell lymphoma False False False DOID:0070336 arthrogryposis multiplex congenita-6 False False False DOID:0070341 neonatal-onset type II citrullinemia False False False -DOID:0070343 CSF1R-related brain malformation and osteopetrosis False False False -DOID:0070348 spinal muscular atrophy with lower extremity predominant False False False DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A False False False DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 False False False DOID:0070355 overactive bladder syndrome False False False -DOID:0070358 primary biliary cholangitis 1 False False False -DOID:0070359 primary biliary cholangitis 2 False False False -DOID:0070360 primary biliary cholangitis 3 False False False -DOID:0070361 primary biliary cholangitis 4 False False False -DOID:0070362 primary biliary cholangitis 5 False False False DOID:0080306 solid adenocarcinoma with mucin production False False False DOID:0080321 autonomic nervous system benign neoplasm False False False -DOID:0080355 hepatobiliary system cancer False False False -DOID:0080364 malignant adenoma False False False DOID:0080371 testicular sex cord-stromal benign neoplasm False False False DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma False False False -DOID:0080373 epididymis disease False False False -DOID:0080374 gastroesophageal cancer False False False -DOID:0080375 gastroesophageal adenocarcinoma False False False -DOID:0080380 nephrotic syndrome type 5 False False False -DOID:0080390 nephrotic syndrome type 1 False False False DOID:0080407 orofacial cleft 14 False False False -DOID:0080410 familial adenomatous polyposis 2 False False False -DOID:0080411 familial adenomatous polyposis 3 False False False DOID:0080492 leukocyte adhesion deficiency 2 False False False -DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome False False False DOID:0080511 epidermolysis bullosa simplex generalized type False False False DOID:0080546 non-alcoholic fatty liver False False False DOID:0080574 congenital disorder of glycosylation Iy False False False DOID:0080577 polygenic disease False False False DOID:0080578 digenic disease False False False DOID:0080594 hyper IgE recurrent infection syndrome 2 False False False -DOID:0080597 Kleefstra syndrome False False False DOID:0080601 germ cell benign neoplasm False False False DOID:0080602 benign teratoma False False False -DOID:0080606 anterior segment dysgenesis 1 False False False DOID:0080607 anterior segment dysgenesis 2 False False False DOID:0080610 anterior segment dysgenesis 5 False False False -DOID:0080612 anterior segment dysgenesis 7 False False False -DOID:0080615 nephroma False False False DOID:0080616 kidney cortex disease False False False -DOID:0080618 lymph node carcinoma False False False -DOID:0080619 auditory system benign neoplasm False False False -DOID:0080638 B-cell acute lymphoblastic leukemia False False False -DOID:0080641 tongue carcinoma False False False -DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 False False False -DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged False False False -DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 False False False -DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy False False False -DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy False False False -DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH False False False -DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like False False False -DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 False False False DOID:0080652 calcium oxalate nephrolithiasis False False False DOID:0080661 nonsyndromic aplasia cutis congenita False False False -DOID:0080662 atrial standstill 1 False False False -DOID:0080663 atrial standstill 2 False False False -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma False False False DOID:0080665 warfarin resistance False False False DOID:0080666 warfarin sensitivity False False False DOID:0080667 spinal muscular atrophy type 0 False False False DOID:0080669 posterior polymorphous corneal dystrophy 4 False False False DOID:0080670 Meesmann corneal dystrophy 1 False False False DOID:0080671 Meesmann corneal dystrophy 2 False False False -DOID:0080672 fibrochondrogenesis 1 False False False -DOID:0080673 fibrochondrogenesis 2 False False False -DOID:0080674 luminal breast carcinoma B False False False DOID:0080675 Stickler syndrome 2 False False False DOID:0080676 Stickler syndrome 1 False False False -DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant False False False DOID:0080678 mucolipidosis III gamma False False False -DOID:0080679 neuronal intestinal dysplasia type A False False False -DOID:0080680 neuronal intestinal dysplasia type B False False False -DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction False False False -DOID:0080682 autosomal dominant familial visceral neuropathy False False False -DOID:0080683 nonsyndromic congenital nail disorder False False False DOID:0080684 diffuse midline glioma, H3 K27M-mutant False False False DOID:0080685 aortic dissection False False False DOID:0080686 tubular aggregate myopathy 2 False False False DOID:0080687 reducing body myopathy 1B False False False -DOID:0080688 mosaic variegated aneuploidy syndrome False False False -DOID:0080689 mosaic variegated aneuploidy syndrome 3 False False False -DOID:0080690 RASopathy False False False -DOID:0080691 Noonan syndrome-like disorder with loose anagen hair False False False -DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 False False False -DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 False False False -DOID:0080695 Burn-McKeown syndrome False False False -DOID:0080696 Winchester syndrome False False False DOID:0080697 Opitz GBBB syndrome False False False -DOID:0080698 Teebi hypertelorism syndrome 1 False False False -DOID:0080699 glutathione synthetase deficiency False False False DOID:0080700 caudal regression syndrome False False False -DOID:0080701 prothrombin thrombophilia False False False DOID:0080702 medulloblastoma WNT activated False False False DOID:0080703 medulloblastoma SHH activated False False False DOID:0080704 medulloblastoma SHH activated and TP53 mutant False False False @@ -116,25 +54,17 @@ DOID:0080705 medulloblastoma SHH activated and TP53 wild-type False False False DOID:0080706 medulloblastoma non-WNT/non-SHH False False False DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 False False False DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 False False False -DOID:0080709 NK cell deficiency False False False -DOID:0080710 T cell and NK cell immunodeficiency False False False DOID:0080712 gene duplication disease False False False -DOID:0080714 hereditary alpha tryptasemia syndrome False False False DOID:0080715 developmental and epileptic encephalopathy 82 False False False DOID:0080716 infantile liver failure syndrome False False False -DOID:0080717 infantile liver failure syndrome 1 False False False -DOID:0080718 GNE myopathy False False False DOID:0080719 proximal myopathy and ophthalmoplegia False False False -DOID:0080720 autosomal dominant congenital deafness with onychodystrophy False False False DOID:0080721 calvarial doughnut lesions with bone fragility False False False DOID:0080722 Kenny-Caffey syndrome type 1 False False False DOID:0080723 Kenny-Caffey syndrome type 2 False False False -DOID:0080724 Kenny-Caffey syndrome False False False DOID:0080725 BASAN syndrome False False False DOID:0080726 Ehlers-Danlos syndrome classic type 2 False False False DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 False False False DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 False False False -DOID:0080729 brittle cornea syndrome 2 False False False DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type False False False DOID:0080731 Ehlers-Danlos syndrome classic-like 1 False False False DOID:0080732 Ehlers-Danlos syndrome classic-like 2 False False False @@ -145,111 +75,54 @@ DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 False False False DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 False False False DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 False False False DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 False False False -DOID:0080740 Libman-Sacks endocarditis False False False -DOID:0080741 limbic encephalitis False False False DOID:0080742 autoimmune cholangitis False False False -DOID:0080743 transverse myelitis False False False -DOID:0080744 antisynthetase syndrome False False False -DOID:0080745 polymyositis False False False -DOID:0080746 Sweet syndrome False False False DOID:0080747 chronic urticaria False False False DOID:0080748 chronic inducible urticaria False False False DOID:0080749 chronic spontaneous urticaria False False False DOID:0080750 erythema nodosum False False False -DOID:0080751 keratosis pilaris atrophicans False False False DOID:0080752 keratosis pilaris atrophicans faciei False False False -DOID:0080753 keratosis follicularis spinulosa decalvans False False False DOID:0080754 X-linked keratosis follicularis spinulosa decalvans False False False DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans False False False -DOID:0080756 atrophoderma vermiculata False False False -DOID:0080757 Fanconi renotubular syndrome 1 False False False -DOID:0080758 Fanconi renotubular syndrome 2 False False False -DOID:0080759 Fanconi renotubular syndrome 3 False False False -DOID:0080760 Fanconi renotubular syndrome 4 False False False -DOID:0080761 Fanconi renotubular syndrome 5 False False False DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z False False False DOID:0080764 hereditary diffuse gastric cancer False False False DOID:0080765 autosomal recessive intellectual developmental disorder 72 False False False -DOID:0080766 erythrokeratodermia variabilis et progressiva 6 False False False -DOID:0080767 autoimmune myocarditis False False False -DOID:0080768 pyridoxine-dependent epilepsy False False False DOID:0080769 early-onset vitamin B6-dependent epilepsy False False False DOID:0080770 autosomal dominant beta thalassemia False False False -DOID:0080771 beta-thalassemia major False False False -DOID:0080772 beta-thalassemia intermedia False False False DOID:0080773 delta beta-thalassemia False False False -DOID:0080774 thalassemia minor False False False -DOID:0080775 complete androgen insensitivity syndrome False False False -DOID:0080776 partial androgen insensitivity syndrome False False False -DOID:0080777 lung sarcomatoid carcinoma False False False DOID:0080778 transient infantile liver failure False False False -DOID:0080779 plasmablastic lymphoma False False False -DOID:0080780 acute erythroid leukemia False False False -DOID:0080781 benign exocrine pancreas neoplasm False False False DOID:0080782 mucinous pancreas adenocarcinoma False False False -DOID:0080784 urinary tract infection False False False -DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 False False False -DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 False False False DOID:0080787 proximal symphalangism 1 False False False DOID:0080788 proximal symphalangism 2 False False False -DOID:0080789 Treacher Collins syndrome 1 False False False -DOID:0080790 Treacher Collins syndrome 2 False False False -DOID:0080791 Treacher Collins syndrome 3 False False False -DOID:0080792 Treacher Collins syndrome 4 False False False DOID:0080794 childhood acute megakaryoblastic leukemia False False False -DOID:0080795 acute basophilic leukemia False False False DOID:0080796 core binding factor acute myeloid leukemia False False False -DOID:0080797 nasal type extranodal NK/T-cell lymphoma False False False DOID:0080798 myeloid leukemia associated with Down Syndrome False False False -DOID:0080799 sinonasal undifferentiated carcinoma False False False -DOID:0080800 salivary gland mucinous adenocarcinoma False False False DOID:0080801 autosomal dominant craniometaphyseal dysplasia False False False DOID:0080802 autosomal recessive craniometaphyseal dysplasia False False False -DOID:0080803 cranioectodermal dysplasia 1 False False False -DOID:0080804 cranioectodermal dysplasia 2 False False False -DOID:0080805 cranioectodermal dysplasia 3 False False False -DOID:0080806 cranioectodermal dysplasia 4 False False False DOID:0080807 autosomal dominant craniodiaphyseal dysplasia False False False -DOID:0080808 mammary analogue secretory carcinoma False False False DOID:0080809 chronic asthma False False False DOID:0080810 acute asthma False False False DOID:0080811 extrinsic asthma False False False DOID:0080812 intermittent asthma False False False DOID:0080813 persistent mild asthma False False False DOID:0080814 persistent moderate asthma False False False -DOID:0080815 childhood-onset asthma False False False DOID:0080816 adult-onset severe asthma False False False DOID:0080817 T2-high asthma False False False DOID:0080818 T2-low asthma False False False DOID:0080819 environmental induced asthma False False False -DOID:0080820 occupational asthma False False False DOID:0080821 exercise-induced bronchoconstriction False False False DOID:0080822 aspirin-induced respiratory disease False False False DOID:0080823 near-fatal asthma False False False DOID:0080824 persistent severe asthma False False False DOID:0080826 nocturnal asthma False False False DOID:0080827 human cytomegalovirus infection False False False -DOID:0080828 VEXAS syndrome False False False -DOID:0080829 low grade glioma False False False DOID:0080830 childhood low-grade glioma False False False -DOID:0080833 laryngomalacia False False False -DOID:0080834 acquired laryngomalacia False False False -DOID:0080835 TORCH syndrome False False False -DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 False False False -DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 False False False DOID:0080839 X-linked warfarin sensitivity False False False -DOID:0080840 optic atrophy 12 False False False DOID:0080841 pemphigoid False False False DOID:0080842 intracranial meningioma False False False DOID:0080843 supratentorial meningioma False False False DOID:0080844 omodysplasia 1 False False False DOID:0080845 omodysplasia 2 False False False DOID:0080846 latent autoimmune diabetes in adults False False False -DOID:0080848 long COVID False False False -DOID:0080849 ocular motor apraxia, Cogan type False False False -DOID:0080850 pemphigus foliaceus False False False -DOID:0080851 IgA pemphigus False False False -DOID:0080852 paraneoplastic pemphigus False False False DOID:0080854 anaplastic pleomorphic xanthoastrocytoma False False False DOID:0080855 Parkinsonism False False False DOID:0080856 vascular Parkinsonism False False False @@ -279,84 +152,36 @@ DOID:0080879 histone mutated tumor False False False DOID:0080880 diffuse glioma, H3 G34 mutant False False False DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant False False False DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma False False False -DOID:0080883 vitamin D-dependent rickets False False False DOID:0080884 vitamin D-dependent rickets type 2A False False False DOID:0080885 vitamin D-dependent rickets type 2B False False False DOID:0080886 vitamin D-dependent rickets type 1A False False False DOID:0080887 vitamin D-dependent rickets type 1B False False False -DOID:0080888 spinal ependymoma, MYCN-amplified False False False DOID:0080889 posterior fossa ependymoma False False False DOID:0080890 supratentorial ependymoma False False False DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma False False False -DOID:0080892 RELA fusion-positive ependymoma False False False -DOID:0080893 Bainbridge-Ropers syndrome False False False DOID:0080894 lipofibromatosis-like neural tumor False False False -DOID:0080895 rapidly involuting congenital hemangioma False False False -DOID:0080896 pericytoma with t(7;12) False False False DOID:0080897 solitary fibrous tumor/hemangiopericytoma False False False -DOID:0080898 cerebellofaciodental syndrome False False False -DOID:0080899 lung pleomorphic carcinoma False False False DOID:0080900 oral rhabdomyosarcoma False False False -DOID:0080901 bladder sarcomatoid transitional cell carcinoma False False False -DOID:0080902 bladder small cell carcinoma False False False DOID:0080904 astroblastoma, MN1-altered False False False -DOID:0080905 central nervous system neuroblastoma False False False DOID:0080906 CNS neuroblastoma with FOXR2 activation False False False DOID:0080907 Cockayne syndrome A False False False DOID:0080908 Cockayne syndrome B False False False DOID:0080909 castration-resistant prostate carcinoma False False False DOID:0080910 cerebrooculofacioskeletal syndrome False False False -DOID:0080911 cerebrooculofacioskeletal syndrome 1 False False False -DOID:0080912 cerebrooculofacioskeletal syndrome 2 False False False -DOID:0080913 cerebrooculofacioskeletal syndrome 3 False False False -DOID:0080914 cerebrooculofacioskeletal syndrome 4 False False False -DOID:0080915 histiocytic sarcoma False False False DOID:0080916 erythroleukemia False False False -DOID:0080917 sporatic amyotrophic lateral sclerosis False False False -DOID:0080918 polymicrogyria False False False -DOID:0080919 unilateral focal polymicrogyria False False False -DOID:0080920 bilateral generalized polymicrogyria False False False -DOID:0080921 bilateral frontal polymicrogyria False False False -DOID:0080922 bilateral frontoparietal polymicrogyria False False False -DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria False False False -DOID:0080924 bilateral perisylvian polymicrogyria False False False DOID:0080925 cytochrome P450 oxidoreductase deficiency False False False -DOID:0080926 7q11.23 duplication syndrome False False False DOID:0080927 apolipoprotein A-IV associated amyloidosis False False False -DOID:0080928 dialysis-related amyloidosis False False False -DOID:0080929 variant ABeta2M amyloidosis False False False DOID:0080930 primary localized cutaneous amyloidosis 1 False False False DOID:0080931 primary localized cutaneous amyloidosis 2 False False False -DOID:0080932 primary localized cutaneous amyloidosis 3 False False False DOID:0080933 immunoglobulin light chain amyloidosis False False False DOID:0080934 immunoglobulin heavy chain amyloidosis False False False DOID:0080935 immunoglobulin heavy-and-light chain False False False -DOID:0080936 serum amyloid A amyloidosis False False False -DOID:0080937 wild-type amyloidosis False False False -DOID:0080938 nonobstructive coronary artery disease False False False DOID:0080939 hereditary angioedema type I False False False DOID:0080940 hereditary angioedema type III False False False -DOID:0080941 acquired angioedema False False False -DOID:0080942 anauxetic dysplasia False False False -DOID:0080943 46,XX sex reversal 5 False False False -DOID:0080944 familial Behcet-like autoinflammatory syndrome False False False -DOID:0080945 abdominal obesity-metabolic syndrome 4 False False False -DOID:0080946 retinal dystrophy with leukodystrophy False False False -DOID:0080947 acute flaccid myelitis False False False -DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome False False False -DOID:0080949 alcoholic ketoacidosis False False False DOID:0080950 alopecia-mental retardation syndrome 4 False False False DOID:0080951 alopecia-mental retardation syndrome 3 False False False -DOID:0080952 AMED syndrome False False False DOID:0080953 amelogenesis imperfecta type 1J False False False -DOID:0080954 arthrogryposis multiplex congenita False False False -DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered False False False -DOID:0080957 primary hypoalphalipoproteinemia 1 False False False -DOID:0080958 primary hypoalphalipoproteinemia 2 False False False -DOID:0080959 arrhythmogenic right ventricular dysplasia 14 False False False DOID:0080960 amelogenesis imperfecta type 2A6 False False False -DOID:0080962 anauxetic dysplasia 2 False False False -DOID:0080963 anauxetic dysplasia 3 False False False DOID:0080964 intracranial berry aneurysm 1 False False False DOID:0080965 intracranial berry aneurysm 2 False False False DOID:0080966 intracranial berry aneurysm 3 False False False @@ -369,8 +194,6 @@ DOID:0080972 intracranial berry aneurysm 9 False False False DOID:0080973 intracranial berry aneurysm 10 False False False DOID:0080974 intracranial berry aneurysm 11 False False False DOID:0080975 intracranial berry aneurysm 12 False False False -DOID:0080976 acute myeloid leukemia with BCR-ABL1 False False False -DOID:0080977 aortic valve disease 3 False False False DOID:0080978 arthrogryposis multiplex congenita-1 False False False DOID:0080979 arthrogryposis multiplex congenita-3 False False False DOID:0080980 arthrogryposis multiplex congenita-4 False False False @@ -380,7 +203,6 @@ DOID:0080984 X-linked intellectual developmental disorder 109 False False False DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type False False False DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 False False False DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 False False False -DOID:0080988 pretibial dystrophic epidermolysis bullosa False False False DOID:0080990 King Denborough syndrome False False False DOID:0080991 multiminicore disease False False False DOID:0080992 rhabdomyolysis-myalgia syndrome False False False @@ -390,16 +212,7 @@ DOID:0080996 diffuse large B-cell lymphoma activated B-cell type False False Fal DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type False False False DOID:0080998 acute necrotizing pancreatitis False False False DOID:0080999 acute hemorrhagic pancreatitis False False False -DOID:0081000 Cowden syndrome 4 False False False -DOID:0081001 Cowden syndrome 5 False False False -DOID:0081002 Cowden syndrome 6 False False False -DOID:0081003 Cowden syndrome 7 False False False -DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit False False False DOID:0081007 RNASET2-deficient cystic leukoencephalopathy False False False -DOID:0081008 intellectual developmental disorder with cardiac arrhythmia False False False -DOID:0081009 Bardet-Biedl syndrome 20 False False False -DOID:0081010 Bardet-Biedl syndrome 21 False False False -DOID:0081011 Bardet-Biedl syndrome 22 False False False DOID:0081012 critical COVID-19 False False False DOID:0081013 severe COVID-19 False False False DOID:0081014 non-severe COVID-19 False False False @@ -408,13 +221,6 @@ DOID:0081016 congenital fibrosis of the extraocular muscles 2 False False False DOID:0081017 congenital fibrosis of the extraocular muscles 3A False False False DOID:0081019 congenital fibrosis of the extraocular muscles 3C False False False DOID:0081020 congenital fibrosis of the extraocular muscles 5 False False False -DOID:0081021 Tukel syndrome False False False -DOID:0081022 retinal cone dystrophy 3B False False False -DOID:0081023 retinal cone dystrophy 4 False False False -DOID:0081024 retinal cone dystrophy 1 False False False -DOID:0081025 retinal cone dystrophy 3A False False False -DOID:0081026 benign peritoneal solitary fibrous tumor False False False -DOID:0081028 glycogen-rich carcinoma False False False DOID:0081030 central conducting lymphatic anomaly False False False DOID:0081031 generalized lymphatic anomaly False False False DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria False False False @@ -422,25 +228,13 @@ DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 False False False DOID:0081037 mixed phenotype acute leukemia with MLL rearranged False False False DOID:0081038 mixed phenotype acute leukemia, B/myeloid False False False DOID:0081039 mixed phenotype acute leukemia, T/myeloid False False False -DOID:0081041 B-cell prolymphocytic leukemia False False False -DOID:0081042 T-cell prolymphocytic leukemia False False False DOID:0081043 fetal akinesia deformation sequence syndrome X-linked False False False -DOID:0081044 frontonasal dysplasia False False False DOID:0081045 frontonasal dysplasia 1 False False False DOID:0081046 frontonasal dysplasia 2 False False False DOID:0081047 frontonasal dysplasia 3 False False False -DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome False False False -DOID:0081049 hepatosplenic T-cell lymphoma False False False -DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma False False False -DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations False False False -DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure False False False -DOID:0081055 central diabetes insipidus False False False -DOID:0081057 gestational diabetes insipidus False False False -DOID:0081058 dipsogenic diabetes insipidus False False False DOID:0081059 X-linked central diabetes insipidus False False False DOID:0081060 X-linked nephrogenic diabetes insipidus False False False DOID:0081061 nephrogenic diabetes insipidus type 2 False False False -DOID:0081063 DICER1 syndrome False False False DOID:0081064 BN2 diffuse large B-cell lymphoma False False False DOID:0081065 EZB diffuse large B-cell lymphoma False False False DOID:0081066 MCD diffuse large B-cell lymphoma False False False @@ -449,24 +243,13 @@ DOID:0081068 ST2 diffuse large B-cell lymphoma False False False DOID:0081069 A53 diffuse large B-cell lymphoma False False False DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma False False False DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma False False False -DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome False False False -DOID:0081073 Teebi hypertelorism syndrome False False False -DOID:0081074 Teebi hypertelorism syndrome 2 False False False -DOID:0081075 Marsili syndrome False False False -DOID:0081076 blastic plasmacytoid dendritic cell neoplasm False False False -DOID:0081077 ectodermal dysplasia and immune deficiency False False False -DOID:0081078 ectodermal dysplasia and immunodeficiency 1 False False False -DOID:0081079 ectodermal dysplasia and immunodeficiency 2 False False False DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) False False False DOID:0081081 acute promyelocytic leukemia with PML-RARA False False False DOID:0081082 acute myelomonocytic leukemia False False False DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) False False False DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) False False False -DOID:0081085 acute myeloid leukemia with minimal differentiation False False False DOID:0081086 acute myeloid leukemia without maturation False False False DOID:0081087 acute myeloid leukemia with maturation False False False -DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive False False False -DOID:0081089 acute myeloid leukemia with mutated NPM1 False False False DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA False False False DOID:0081091 acute myeloid leukemia with mutated RUNX1 False False False DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes False False False @@ -474,41 +257,28 @@ DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) False False False DOID:0081094 acute myeloid leukemia with MLL rearrangement False False False DOID:0081095 acute myeloid leukemia with mutated CEBPA False False False DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) False False False -DOID:0081097 Rafiq syndrome False False False DOID:0081098 autosomal recessive intellectual developmental disorder 13 False False False DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies False False False DOID:0081100 spastic paraplegia with deafness False False False -DOID:0081101 nonautoimmune hyperthyroidism False False False -DOID:0081102 familial gestational hyperthyroidism False False False DOID:0081104 hot water epilepsy False False False DOID:0081105 keratosis palmoplantaris striata False False False DOID:0081106 hot water epilepsy 1 False False False DOID:0081107 hot water epilepsy 2 False False False DOID:0081108 keratosis palmoplantaris striata 1 False False False -DOID:0081109 keratosis palmoplantaris striata 2 False False False -DOID:0081110 keratosis palmoplantaris striata 3 False False False -DOID:0081111 osteosclerotic metaphyseal dysplasia False False False -DOID:0081112 Baraitser-Winter syndrome 1 False False False -DOID:0081113 Baraitser-Winter syndrome 2 False False False DOID:0081114 benign familial infantile seizures 1 False False False DOID:0081115 benign familial infantile seizures 2 False False False DOID:0081116 benign familial infantile seizures 3 False False False DOID:0081117 benign familial infantile seizures 4 False False False DOID:0081118 benign familial infantile seizures 5 False False False DOID:0081119 benign familial infantile seizures 6 False False False -DOID:0081120 Graves ophthalmopathy False False False -DOID:0081121 inclusion body myopathy and brain white matter abnormalities False False False DOID:0081122 Catel Manzke syndrome False False False DOID:0081123 X-linked mental retardation Gustavson type False False False DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 False False False DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 False False False -DOID:0081126 DeSanto-Shinawi syndrome False False False -DOID:0081127 mandibuloacral dysplasia False False False DOID:0081128 mandibuloacral dysplasia type A lipodystrophy False False False DOID:0081129 mandibuloacral dysplasia type B lipodystrophy False False False DOID:0081130 BH4-deficient hyperphenylalaninemia C False False False DOID:0081131 BH4-deficient hyperphenylalaninemia D False False False -DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia False False False DOID:0081133 3-methylglutaconic aciduria type 7a False False False DOID:0081134 3-methylglutaconic aciduria type 7b False False False DOID:0081135 agammaglobulinemia 2 False False False @@ -533,18 +303,6 @@ DOID:0081153 common variable immunodeficiency 11 False False False DOID:0081154 common variable immunodeficiency 12 False False False DOID:0081155 common variable immunodeficiency 13 False False False DOID:0081156 common variable immunodeficiency 14 False False False -DOID:0081157 dilated cardiomyopathy 1LL False False False -DOID:0081158 dilated cardiomyopathy 1MM False False False -DOID:0081159 dilated cardiomyopathy 2C False False False -DOID:0081160 dilated cardiomyopathy 2D False False False -DOID:0081161 dilated cardiomyopathy 2E False False False -DOID:0081162 dilated cardiomyopathy 2F False False False -DOID:0081163 dilated cardiomyopathy 2G False False False -DOID:0081164 dilated cardiomyopathy 3B False False False -DOID:0081168 HMG-CoA synthase 2 deficiency False False False -DOID:0081169 Leber congenital amaurosis 19 False False False -DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies False False False -DOID:0081176 hypotonia, ataxia, and delayed development syndrome False False False DOID:0081177 autosomal recessive intellectual developmental disorder 1 False False False DOID:0081178 autosomal recessive intellectual developmental disorder 2 False False False DOID:0081179 autosomal recessive intellectual developmental disorder 3 False False False @@ -591,7 +349,6 @@ DOID:0081219 autosomal recessive intellectual developmental disorder 57 False Fa DOID:0081220 autosomal recessive intellectual developmental disorder 58 False False False DOID:0081221 autosomal recessive intellectual developmental disorder 59 False False False DOID:0081222 autosomal recessive intellectual developmental disorder 60 False False False -DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 False False False DOID:0081224 autosomal recessive intellectual developmental disorder 63 False False False DOID:0081225 autosomal recessive intellectual developmental disorder 64 False False False DOID:0081226 autosomal recessive intellectual developmental disorder 65 False False False @@ -608,27 +365,21 @@ DOID:0081236 autosomal recessive intellectual developmental disorder 77 False Fa DOID:0081237 acromesomelic dysplasia-3 False False False DOID:0081238 acromesomelic dysplasia-4 False False False DOID:0081239 injection anthrax False False False -DOID:0081240 peroxisome biogenesis disorder 1B False False False DOID:0081241 peroxisome biogenesis disorder 3B False False False DOID:0081242 autoimmune interstitial lung, joint, and kidney disease False False False DOID:0081243 rhizomelic chondrodysplasia punctate type 4 False False False DOID:0081244 pituitary blastoma False False False DOID:0081245 cauda equina neuroendocrine tumor False False False DOID:0081246 teratoma with somatic-type malignancy False False False -DOID:0081247 dedifferentiated chondrosarcoma False False False -DOID:0081248 pineocytoma False False False DOID:0081249 EWSR1-negative small round cell tumor False False False DOID:0081250 CIC-rearranged sarcoma False False False -DOID:0081251 papillary tumor of the pineal region False False False DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive False False False DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive False False False DOID:0081254 posterior fossa group A ependymoma False False False DOID:0081255 posterior fossa group B ependymoma False False False DOID:0081256 astrocytoma, IDH-mutant, grade 2 False False False DOID:0081257 astrocytoma, IDH-mutant, grade 3 False False False -DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma False False False DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered False False False -DOID:0081261 angiocentric glioma False False False DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies False False False DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities False False False DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome False False False @@ -695,48 +446,35 @@ DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, DOID:0081325 developmental and epileptic encephalopathy 94 False False False DOID:0081326 oxoglutarate dehydrogenase deficiency False False False DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures False False False +DOID:0111156 spermatogenic failure 9 False False False DOID:0111180 French Canadian Leigh disease False False False DOID:0111189 distal muscular dystrophy 3 False False False DOID:0111190 distal muscular dystrophy 4 False False False DOID:0111203 distal hereditary motor neuronopathy type 5 False False False DOID:0111214 distal spinal muscular atrophy type 5 False False False -DOID:0111218 Friedreich ataxia 1 False False False DOID:0111223 centronuclear myopathy 1 False False False DOID:0111224 centronuclear myopathy 4 False False False DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 False False False DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 False False False DOID:0111269 autosomal dominant hyaline body myopathy False False False -DOID:0111275 speech-language disorder-1 False False False DOID:0111278 histiocytosis-lymphadenopathy plus syndrome False False False -DOID:0111349 hereditary desmoid disease False False False -DOID:0111369 hyperalphalipoproteinemia 1 False False False -DOID:0111388 X-linked hypoparathyroidism False False False DOID:0111421 familial apolipoprotein A5 deficiency False False False DOID:0111444 progressive myoclonus epilepsy 4 False False False DOID:0111452 progressive myoclonus epilepsy 1A False False False DOID:0111576 dehydrated hereditary stomatocytosis 1 False False False -DOID:0111592 plasminogen deficiency type I False False False DOID:0111596 distal arthrogryposis type 1 False False False -DOID:0111603 distal arthrogryposis type 7 False False False DOID:0111605 distal arthrogryposis type 2A False False False DOID:0111607 distal arthrogryposis type 3 False False False -DOID:0111608 distal arthrogryposis type 5 False False False DOID:0111609 distal arthrogryposis type 6 False False False DOID:0111610 distal arthrogryposis type 4 False False False -DOID:0111622 ACTH-independent macronodular adrenal hyperplasia False False False DOID:0111664 ectodermal dysplasia 1 False False False -DOID:0111706 oblique facial clefting 1 False False False DOID:0111708 focal nonepidermolytic palmoplantar keratoderma False False False -DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma False False False DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 False False False -DOID:0111715 Schaaf-Yang syndrome False False False DOID:0111721 amelogenesis imperfecta type 3 False False False DOID:0111729 familial episodic pain syndrome 1 False False False DOID:0111731 familial episodic pain syndrome 3 False False False DOID:0111737 X-linked deafness 2 False False False DOID:0111741 X-linked deafness 5 False False False -DOID:0111757 Y-linked deafness False False False -DOID:0111761 46,XX sex reversal 1 False False False DOID:0111790 congenital nystagmus 1 False False False DOID:0111791 congenital nystagmus 7 False False False DOID:0111792 congenital nystagmus 2 False False False @@ -745,51 +483,25 @@ DOID:0111795 congenital nystagmus 6 False False False DOID:0111796 congenital nystagmus 5 False False False DOID:0111797 autosomal recessive congenital nystagmus False False False DOID:0111798 X-linked nephrolithiasis type I False False False -DOID:0111799 syndromic microphthalmia 1 False False False DOID:0111800 syndromic microphthalmia 12 False False False -DOID:0111801 syndromic microphthalmia 3 False False False -DOID:0111802 syndromic microphthalmia 14 False False False -DOID:0111803 syndromic microphthalmia 8 False False False DOID:0111804 syndromic microphthalmia 11 False False False DOID:0111805 syndromic microphthalmia 6 False False False DOID:0111806 syndromic microphthalmia 5 False False False -DOID:0111808 linear skin defects with multiple congenital anomalies 1 False False False DOID:0111809 syndromic microphthalmia 2 False False False DOID:0111811 syndromic microphthalmia 13 False False False DOID:0111812 syndromic microphthalmia 10 False False False -DOID:0111813 syndactyly type 8 False False False -DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type False False False DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis False False False -DOID:0111816 syndactyly type 1 False False False -DOID:0111817 syndactyly type 3 False False False -DOID:0111818 syndactyly type 4 False False False -DOID:0111819 syndactyly type 5 False False False DOID:0111820 zygodactyly 1 False False False -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 False False False -DOID:0111822 CHILD syndrome False False False -DOID:0111824 Aarskog syndrome False False False -DOID:0111825 autosomal dominant Aarskog syndrome False False False -DOID:0111826 Abruzzo-Erickson syndrome False False False -DOID:0111827 X-linked spinal muscular atrophy 2 False False False -DOID:0111828 X-linked cerebellar ataxia False False False DOID:0111829 X-linked spinocerebellar ataxia 1 False False False DOID:0111830 X-linked spinocerebellar ataxia 2 False False False DOID:0111831 X-linked spinocerebellar ataxia 3 False False False DOID:0111832 X-linked spinocerebellar ataxia 4 False False False DOID:0111833 X-linked spinocerebellar ataxia 5 False False False -DOID:0111834 X-linked reticulate pigmentary disorder False False False DOID:0111835 congenital nongoitrous hypothyroidism 9 False False False DOID:0111836 congenital nongoitrous hypothyroidism 7 False False False -DOID:0111837 congenital nongoitrous hypothyroidism 8 False False False -DOID:0111838 Basilicata-Akhtar syndrome False False False DOID:0111839 congenital disorder of glycosylation Icc False False False DOID:0111840 Van Esch-O'Driscoll syndrome False False False -DOID:0111841 Shukla-Vernon syndrome False False False -DOID:0111842 Keipert syndrome False False False -DOID:0111843 Paganini-Miozzo syndrome False False False DOID:0111844 X-linked intellectual developmental disorder 108 False False False -DOID:0111845 Mullegama-Klein-Martinez syndrome False False False -DOID:0111846 X-linked congenital hemolytic anemia False False False DOID:0111847 osteogenesis imperfecta type 19 False False False DOID:0111848 osteogenesis imperfecta type 18 False False False DOID:0111849 osteogenesis imperfecta type 20 False False False @@ -802,152 +514,46 @@ DOID:0111855 primary ciliary dyskinesia 42 False False False DOID:0111856 primary ciliary dyskinesia 43 False False False DOID:0111857 primary ciliary dyskinesia 45 False False False DOID:0111858 primary ciliary dyskinesia 41 False False False -DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis False False False -DOID:0111860 AMME complex False False False -DOID:0111861 Meester-Loeys syndrome False False False -DOID:0111862 congenital bilateral absence of vas deferens False False False DOID:0111863 X-linked congenital bilateral absence of vas deferens False False False DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens False False False -DOID:0111865 MEND syndrome False False False -DOID:0111866 trichothiodystrophy False False False DOID:0111867 nonphotosensitive trichothiodystrophy False False False DOID:0111868 nonphotosensitive trichothiodystrophy 5 False False False -DOID:0111869 photosensitive trichothiodystrophy 2 False False False DOID:0111870 nonphotosensitive trichothiodystrophy 7 False False False -DOID:0111871 photosensitive trichothiodystrophy 3 False False False DOID:0111872 nonphotosensitive trichothiodystrophy 6 False False False -DOID:0111873 photosensitive trichothiodystrophy 1 False False False -DOID:0111874 Sabinas brittle hair syndrome False False False -DOID:0111875 MLS syndrome False False False -DOID:0111876 linear skin defects with multiple congenital anomalies 3 False False False -DOID:0111877 linear skin defects with multiple congenital anomalies 2 False False False -DOID:0111878 Diamond-Blackfan anemia 7 False False False -DOID:0111879 Diamond-Blackfan anemia 6 False False False -DOID:0111880 Diamond-Blackfan anemia 17 False False False -DOID:0111881 Diamond-Blackfan anemia 8 False False False -DOID:0111882 Diamond-Blackfan anemia 12 False False False -DOID:0111883 Diamond-Blackfan anemia 5 False False False -DOID:0111884 Diamond-Blackfan anemia 9 False False False -DOID:0111885 Diamond-Blackfan anemia 2 False False False -DOID:0111886 Diamond-Blackfan anemia 19 False False False -DOID:0111887 Diamond-blackfan anemia 3 False False False -DOID:0111888 Diamond-Blackfan anemia 10 False False False -DOID:0111889 Diamond-Blackfan anemia 13 False False False -DOID:0111890 Diamond-Blackfan anemia 4 False False False -DOID:0111891 Diamond-Blackfan anemia 20 False False False -DOID:0111892 Diamond-Blackfan anemia 11 False False False -DOID:0111893 Diamond-Blackfan anemia 16 False False False DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis False False False -DOID:0111895 Diamond-Blackfan anemia 1 False False False -DOID:0111896 Diamond-Blackfan anemia 18 False False False -DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis False False False -DOID:0111898 CK syndrome False False False -DOID:0111899 X-linked thrombophilia due to factor IX defect False False False -DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency False False False -DOID:0111901 heparin cofactor II deficiency False False False -DOID:0111902 thrombophilia due to activated protein C resistance False False False -DOID:0111903 thrombophilia due to HRG deficiency False False False DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency False False False -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency False False False -DOID:0111906 thrombophilia due to decreased release of PLAT False False False -DOID:0111907 thrombophilia due to thrombin defect False False False -DOID:0111908 thrombophilia due to thrombomodulin defect False False False DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency False False False -DOID:0111911 spermatogenic failure 34 False False False -DOID:0111912 spermatogenic failure 41 False False False -DOID:0111913 spermatogenic failure 30 False False False -DOID:0111914 spermatogenic failure 35 False False False -DOID:0111915 spermatogenic failure 33 False False False -DOID:0111916 spermatogenic failure 28 False False False -DOID:0111917 spermatogenic failure 43 False False False -DOID:0111918 spermatogenic failure 40 False False False -DOID:0111919 spermatogenic failure 38 False False False -DOID:0111920 spermatogenic failure 25 False False False -DOID:0111921 spermatogenic failure 36 False False False -DOID:0111922 spermatogenic failure 31 False False False -DOID:0111923 spermatogenic failure 42 False False False -DOID:0111924 spermatogenic failure 26 False False False -DOID:0111925 spermatogenic failure 32 False False False -DOID:0111926 spermatogenic failure 39 False False False -DOID:0111927 spermatogenic failure 37 False False False -DOID:0111928 spermatogenic failure 27 False False False -DOID:0111929 spermatogenic failure 24 False False False -DOID:0111930 spermatogenic failure 29 False False False -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome False False False DOID:0111932 severe congenital encephalopathy due to MECP2 mutation False False False DOID:0111933 phosphoglycerate kinase 1 deficiency False False False -DOID:0111934 immunodeficiency 38 False False False DOID:0111935 immunodeficiency 16 False False False -DOID:0111936 immunodeficiency 14 False False False DOID:0111937 immunodeficiency 22 False False False DOID:0111938 immunodeficiency 24 False False False -DOID:0111939 immunodeficiency 37 False False False DOID:0111940 immunodeficiency 42 False False False -DOID:0111941 immunodeficiency 20 False False False -DOID:0111942 immunodeficiency 25 False False False DOID:0111943 immunodeficiency 48 False False False -DOID:0111944 immunodeficiency 31B False False False -DOID:0111945 immunodeficiency 31A False False False -DOID:0111946 immunodeficiency 31C False False False -DOID:0111947 immunodeficiency 21 False False False DOID:0111948 immunodeficiency 46 False False False -DOID:0111949 immunodeficiency 36 False False False -DOID:0111950 immunodeficiency 29 False False False DOID:0111951 immunodeficiency 40 False False False -DOID:0111952 immunodeficiency 57 False False False -DOID:0111953 immunodeficiency 23 False False False -DOID:0111954 immunodeficiency 60 False False False -DOID:0111955 immunodeficiency 27A False False False -DOID:0111956 immunodeficiency 27B False False False DOID:0111957 immunodeficiency 11A False False False -DOID:0111958 immunodeficiency 11B False False False DOID:0111959 immunodeficiency 15B False False False -DOID:0111960 immunodeficiency 15A False False False DOID:0111961 immunodeficiency 26 False False False -DOID:0111962 combined immunodeficiency False False False -DOID:0111963 dendritic cell deficiency False False False DOID:0111964 B cell and dendritic cell deficiency False False False DOID:0111965 T cell, B cell, and NK cell deficiency False False False DOID:0111966 monocyte, dendritic cell, and NK cell deficiency False False False DOID:0111967 immunodeficiency 54 False False False DOID:0111968 immunodeficiency 41 False False False -DOID:0111969 immunodeficiency 39 False False False DOID:0111970 immunodeficiency 10 False False False -DOID:0111971 immunodeficiency 18 False False False -DOID:0111972 immunodeficiency 19 False False False -DOID:0111973 immunodeficiency 17 False False False DOID:0111974 immunodeficiency 59 False False False -DOID:0111975 immunodeficiency 44 False False False DOID:0111976 immunodeficiency 9 False False False -DOID:0111978 immunodeficiency 65 False False False -DOID:0111979 immunodeficiency 49 False False False -DOID:0111980 immunodeficiency 64 False False False DOID:0111981 immunodeficiency 43 False False False DOID:0111982 immunodeficiency 56 False False False -DOID:0111983 immunodeficiency 52 False False False DOID:0111984 immunodeficiency 58 False False False -DOID:0111985 immunodeficiency 32B False False False DOID:0111986 immunodeficiency 32A False False False -DOID:0111987 immunodeficiency 13 False False False DOID:0111988 immunodeficiency 12 False False False -DOID:0111989 immunodeficiency 35 False False False DOID:0111990 immunodeficiency 30 False False False -DOID:0111991 immunodeficiency 62 False False False -DOID:0111992 immunodeficiency 53 False False False DOID:0111993 immunodeficiency 55 False False False -DOID:0111994 immunodeficiency 45 False False False -DOID:0111995 immunodeficiency 28 False False False -DOID:0111996 immunodeficiency 51 False False False DOID:0111997 immunodeficiency 63 False False False -DOID:0111998 immunodeficiency 66 False False False -DOID:0111999 immunodeficiency 61 False False False DOID:0112000 immunodeficiency 34 False False False DOID:0112001 immunodeficiency 50 False False False -DOID:0112002 immunodeficiency 47 False False False -DOID:0112003 immunodeficiency 33 False False False DOID:0112004 immunodeficiency 71 False False False -DOID:0112005 immunodeficiency 70 False False False -DOID:0112006 immunodeficiency 69 False False False DOID:0112007 growth hormone secreting pituitary adenoma 2 False False False DOID:0112008 pituitary adenoma 5 False False False DOID:0112009 pituitary adenoma 1 False False False @@ -978,7 +584,6 @@ DOID:0112033 non-syndromic X-linked intellectual disability 81 False False False DOID:0112034 non-syndromic X-linked intellectual disability 9 False False False DOID:0112035 non-syndromic X-linked intellectual disability 96 False False False DOID:0112036 non-syndromic X-linked intellectual disability 105 False False False -DOID:0112037 chromosome Xp11.22 duplication syndrome False False False DOID:0112038 non-syndromic X-linked intellectual disability 1 False False False DOID:0112039 non-syndromic X-linked intellectual disability 77 False False False DOID:0112040 non-syndromic X-linked intellectual disability 100 False False False @@ -997,15 +602,10 @@ DOID:0112052 non-syndromic X-linked intellectual disability 82 False False False DOID:0112053 non-syndromic X-linked intellectual disability 88 False False False DOID:0112054 non-syndromic X-linked intellectual disability 107 False False False DOID:0112055 non-syndromic X-linked intellectual disability 46 False False False -DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome False False False DOID:0112057 non-syndromic X-linked intellectual disability 42 False False False DOID:0112058 non-syndromic X-linked intellectual disability 41 False False False DOID:0112059 non-syndromic X-linked intellectual disability 72 False False False DOID:0112060 Raynaud-Claes syndrome False False False -DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia False False False -DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia False False False -DOID:0112063 X-Linked immunodeficiency 74 False False False -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis False False False DOID:0112065 nuclear type mitochondrial complex I deficiency False False False DOID:0112066 nuclear type mitochondrial complex I deficiency 6 False False False DOID:0112067 nuclear type mitochondrial complex I deficiency 25 False False False @@ -1044,102 +644,34 @@ DOID:0112099 nuclear type mitochondrial complex I deficiency 12 False False Fals DOID:0112100 mitochondrial type mitochondrial complex I deficiency False False False DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 False False False DOID:0112102 Sotos syndrome 2 False False False -DOID:0112103 Sotos syndrome 1 False False False -DOID:0112104 Sotos syndrome 3 False False False -DOID:0112105 X-linked parkinsonism-spasticity syndrome False False False -DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia False False False DOID:0112107 McLeod syndrome False False False -DOID:0112108 myofibrillar myopathy 10 False False False -DOID:0112109 spermatogenic failure 44 False False False -DOID:0112110 combined oxidative phosphorylation deficiency 49 False False False -DOID:0112111 combined oxidative phosphorylation deficiency 50 False False False -DOID:0112112 combined oxidative phosphorylation deficiency 48 False False False -DOID:0112113 combined oxidative phosphorylation deficiency 45 False False False -DOID:0112114 combined oxidative phosphorylation deficiency 47 False False False -DOID:0112115 combined oxidative phosphorylation deficiency 46 False False False -DOID:0112116 combined oxidative phosphorylation deficiency 43 False False False -DOID:0112117 combined oxidative phosphorylation deficiency 40 False False False -DOID:0112118 combined oxidative phosphorylation deficiency 42 False False False -DOID:0112119 combined oxidative phosphorylation deficiency 41 False False False -DOID:0112120 SHOX-related short stature False False False -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis False False False -DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders False False False -DOID:0112123 deafness, dystonia, and cerebral hypomyelination False False False -DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections False False False -DOID:0112125 alpha-thalassemia myelodysplasia syndrome False False False DOID:0112126 Stocco Dos Santos type X-linked intellectual disability False False False DOID:0112127 HRPT-related hyperuricemia False False False -DOID:0112128 X-linked severe congenital neutropenia False False False DOID:0112129 severe congenital neutropenia 7 False False False -DOID:0112130 autosomal dominant severe congenital neutropenia False False False DOID:0112131 severe congenital neutropenia 2 False False False DOID:0112132 severe congenital neutropenia 5 False False False DOID:0112133 severe congenital neutropenia 3 False False False DOID:0112134 severe congenital neutropenia 6 False False False DOID:0112135 severe congenital neutropenia 8 False False False DOID:0112136 severe congenital neutropenia 4 False False False -DOID:0112137 combined oxidative phosphorylation deficiency 51 False False False DOID:0112138 primary coenzyme Q10 deficiency 9 False False False DOID:0112139 nuclear type mitochondrial complex I deficiency 35 False False False -DOID:0112140 retinitis pigmentosa 83 False False False -DOID:0112141 retinitis pigmentosa 84 False False False -DOID:0112142 retinitis pigmentosa 85 False False False -DOID:0112143 retinitis pigmentosa 86 False False False -DOID:0112144 retinitis pigmentosa 87 False False False -DOID:0112145 retinitis pigmentosa 88 False False False -DOID:0112146 retinitis pigmentosa 89 False False False -DOID:0112147 retinitis pigmentosa 90 False False False -DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome False False False -DOID:0112149 terminal osseous dysplasia False False False -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia False False False -DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome False False False -DOID:0112152 CHIME syndrome False False False DOID:0112153 hypomyelinating leukodystrophy 20 False False False -DOID:0112154 inflammatory bowel disease 30 False False False -DOID:0112155 inflammatory bowel disease 29 False False False -DOID:0112156 X-linked dyserythropoietic anemia False False False -DOID:0112157 X-linked atrophic macular degeneration False False False -DOID:0112158 De Sanctis-Cacchione syndrome False False False DOID:0112159 autosomal dominant nonsyndromic deafness 78 False False False DOID:0112160 autosomal dominant nonsyndromic deafness 79 False False False -DOID:0112161 Noonan syndrome 13 False False False DOID:0112162 autosomal recessive nonsyndromic deafness 116 False False False -DOID:0112163 spermatogenic failure 45 False False False -DOID:0112164 spermatogenic failure 46 False False False DOID:0112165 autosomal dominant nonsyndromic deafness 74 False False False DOID:0112166 autosomal dominant nonsyndromic deafness 75 False False False DOID:0112167 autosomal dominant nonsyndromic deafness 76 False False False DOID:0112168 autosomal dominant nonsyndromic deafness 77 False False False -DOID:0112169 Noonan syndrome 11 False False False -DOID:0112170 Noonan syndrome 12 False False False -DOID:0112171 wrinkly skin syndrome False False False -DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors False False False DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 False False False DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 False False False -DOID:0112175 spermatogenic failure 47 False False False -DOID:0112176 spermatogenic failure 48 False False False -DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome False False False -DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 False False False DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 False False False DOID:0112180 urocanase deficiency False False False -DOID:0112181 Schinzel type phocomelia False False False -DOID:0112182 mismatch repair cancer syndrome False False False -DOID:0112183 familial thyroid dyshormonogenesis False False False -DOID:0112184 thyroid dyshormonogenesis 5 False False False DOID:0112185 thyroid dyshormonogenesis 1 False False False -DOID:0112186 thyroid dyshormonogenesis 2A False False False -DOID:0112187 thyroid dyshormonogenesis 3 False False False -DOID:0112188 thyroid dyshormonogenesis 4 False False False -DOID:0112189 thyroid dyshormonogenesis 6 False False False DOID:0112190 distal arthrogryposis type 1C False False False -DOID:0112191 tetraamelia syndrome False False False -DOID:0112192 tetraamelia syndrome 1 False False False -DOID:0112193 tetraamelia syndrome 2 False False False -DOID:0112194 Filippi syndrome False False False -DOID:0112195 spondyloperipheral dysplasia False False False DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type False False False DOID:0112201 osteogenesis imperfecta type 21 False False False -DOID:0112202 developmental and epileptic encephalopathy False False False DOID:0112203 developmental and epileptic encephalopathy 67 False False False DOID:0112204 developmental and epileptic encephalopathy 68 False False False DOID:0112205 developmental and epileptic encephalopathy 69 False False False @@ -1160,122 +692,59 @@ DOID:0112219 developmental and epileptic encephalopathy 84 False False False DOID:0112220 developmental and epileptic encephalopathy 86 False False False DOID:0112221 developmental and epileptic encephalopathy 87 False False False DOID:0112222 developmental and epileptic encephalopathy 88 False False False -DOID:0112223 developmental and epileptic encephalopathy 89 False False False DOID:0112224 chondrodysplasia with joint dislocations gPAPP type False False False DOID:0112225 BH4-deficient hyperphenylalaninemia B False False False -DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome False False False -DOID:0112227 tubulinopathy False False False -DOID:0112228 lissencephaly 9 with complex brainstem malformation False False False -DOID:0112229 lissencephaly 10 False False False DOID:0112230 lissencephaly 5 False False False -DOID:0112231 lissencephaly 7 with cerebellar hypoplasia False False False -DOID:0112232 lissencephaly 3 False False False -DOID:0112233 lissencephaly 8 False False False -DOID:0112234 microlissencephaly False False False -DOID:0112235 lissencephaly 4 False False False DOID:0112236 lissencephaly 6 False False False -DOID:0112237 lissencephaly 1 False False False DOID:0112238 X-linked lissencephaly 2 False False False -DOID:0112239 X-linked lissencephaly 1 False False False -DOID:0112240 Leber congenital amaurosis with early-onset deafness False False False -DOID:0112241 multiple benign circumferential skin creases on limbs False False False DOID:0112242 congenital symmetric circumferential skin creases 1 False False False DOID:0112243 congenital symmetric circumferential skin creases 2 False False False -DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome False False False DOID:0112245 focal segmental glomerulosclerosis 3 False False False -DOID:0112246 glutaric acidemia type 3 False False False -DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder False False False DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency False False False -DOID:0112249 GAPO syndrome False False False DOID:0112250 Gaucher's disease type IIIC False False False -DOID:0112251 Ghosal hematodiaphyseal syndrome False False False DOID:0112252 glutathione synthetase deficiency of erythrocytes False False False DOID:0112253 combined cellular and humoral immune defects with granulomas False False False -DOID:0112254 hepatic venoocclusive disease with immunodeficiency False False False -DOID:0112255 homocystinuria-megaloblastic anemia cblE type False False False -DOID:0112256 homocystinuria-megaloblastic anemia cblG type False False False -DOID:0112257 hydroxykynureninuria False False False DOID:0112258 N-acetylglutamate synthase deficiency False False False -DOID:0112259 Leydig cell hypoplasia False False False -DOID:0112260 Leydig cell hypoplasia type I False False False -DOID:0112261 Leydig cell hypoplasia type II False False False -DOID:0112262 leucine-sensitive hypoglycemia of infancy False False False DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy False False False -DOID:0112264 Woodhouse-Sakati syndrome False False False -DOID:0112265 iminoglycinuria False False False -DOID:0112266 nephrotic syndrome type 23 False False False -DOID:0112267 nephrotic syndrome type 21 False False False -DOID:0112268 nephrotic syndrome type 22 False False False DOID:0112269 primary ovarian insufficiency 18 False False False -DOID:0112270 spermatogenic failure 52 False False False -DOID:0112271 spermatogenic failure 49 False False False DOID:0112272 spermatogenic failure 50 False False False -DOID:0112273 spermatogenic failure 51 False False False -DOID:0112274 X-linked spermatogenic failure 3 False False False DOID:0112275 developmental and epileptic encephalopathy 93 False False False -DOID:0112276 neurodevelopmental disorder with involuntary movements False False False -DOID:0112277 immunodeficiency 79 False False False DOID:0112278 primary ovarian insufficiency 19 False False False -DOID:0112279 spermatogenic failure 53 False False False DOID:0112281 spondyloepiphyseal dysplasia Stanescu type False False False DOID:0112282 spondyloepiphyseal dysplasia Kimberley type False False False DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type False False False -DOID:0112284 spondyloepiphyseal dysplasia tarda False False False DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda False False False -DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy False False False DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech False False False DOID:0112288 spondyloepiphyseal dysplasia Nishimura type False False False -DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies False False False -DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis False False False DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type False False False DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability False False False DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda False False False -DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability False False False -DOID:0112295 spondylometaphyseal dysplasia False False False DOID:0112296 spondylometaphyseal dysplasia Algerian type False False False DOID:0112297 spondylometaphyseal dysplasia corner fracture type False False False DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type False False False -DOID:0112299 axial spondylometaphyseal dysplasia False False False DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy False False False DOID:0112301 spondylometaphyseal dysplasia type A4 False False False DOID:0112302 spondylometaphyseal dysplasia East African type False False False -DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy False False False DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type False False False DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism False False False -DOID:0112306 Mahvash Disease False False False -DOID:0112307 sarcosinemia False False False -DOID:0112308 central precocious puberty False False False DOID:0112309 central precocious puberty 2 False False False DOID:0112310 central precocious puberty 1 False False False -DOID:0112311 male infertility due to acephalic spermatozoa False False False -DOID:0112312 male infertility due to globozoospermia False False False DOID:0112313 brain small vessel disease False False False DOID:0112314 brain small vessel disease 2 False False False -DOID:0112315 brain small vessel disease 3 False False False -DOID:0112316 methemoglobinemia and ambiguous genitalia False False False -DOID:0112317 Schindler disease False False False DOID:0112318 Schindler disease type 1 False False False DOID:0112319 Kanzaki disease False False False -DOID:0112320 Schindler disease type 3 False False False DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome False False False -DOID:0112322 pontocerebellar hypoplasia type 1 False False False DOID:0112323 pontocerebellar hypoplasia type 1D False False False DOID:0112324 pontocerebellar hypoplasia type 11 False False False DOID:0112325 pontocerebellar hypoplasia type 14 False False False DOID:0112326 pontocerebellar hypoplasia type 15 False False False DOID:0112327 pontocerebellar hypoplasia type 12 False False False -DOID:0112328 pontocerebellar hypoplasia type 2 False False False DOID:0112329 pontocerebellar hypoplasia type 2F False False False DOID:0112330 pontocerebellar hypoplasia type 1E False False False DOID:0112331 pontocerebellar hypoplasia type 1F False False False DOID:0112332 pontocerebellar hypoplasia type 13 False False False DOID:0112333 pontocerebellar hypoplasia type 16 False False False DOID:0112334 pontocerebellar hypoplasia type 1C False False False -DOID:0112335 spermatogenic failure 54 False False False -DOID:0112336 spermatogenic failure 56 False False False -DOID:0112337 spermatogenic failure 55 False False False -DOID:0112338 spermatogenic failure 57 False False False -DOID:0112339 Tatton-Brown-Rahman syndrome False False False DOID:0112340 craniotubular dysplasia Ikegawa type False False False DOID:0112341 hereditary spastic paraplegia 80 False False False DOID:0112342 hereditary spastic paraplegia 86 False False False @@ -1285,31 +754,12 @@ DOID:0112345 hereditary spastic paraplegia 85 False False False DOID:0112346 hereditary spastic paraplegia 83 False False False DOID:0112347 hereditary spastic paraplegia 84 False False False DOID:0112348 hereditary spastic paraplegia 78 False False False -DOID:0112349 hereditary spastic paraplegia 81 False False False -DOID:0112350 spermatogenic failure 61 False False False -DOID:0112351 spermatogenic failure 62 False False False -DOID:0112352 spermatogenic failure 58 False False False -DOID:0112353 spermatogenic failure 64 False False False -DOID:0112354 spermatogenic failure 65 False False False -DOID:0112355 spermatogenic failure 60 False False False -DOID:0112356 spermatogenic failure 63 False False False -DOID:0112357 spermatogenic failure 59 False False False -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies False False False -DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay False False False DOID:0112360 spondylocostal dysostosis 6 False False False DOID:0112361 spondylocostal dysostosis 3 False False False DOID:0112362 spondylocostal dysostosis 2 False False False -DOID:0112363 spondylocostal dysostosis 5 False False False DOID:0112364 spondylocostal dysostosis 4 False False False DOID:0112365 spondylocostal dysostosis 1 False False False -DOID:0112367 Coffin-Siris syndrome 8 False False False -DOID:0112368 Coffin-Siris syndrome 5 False False False -DOID:0112369 Coffin-Siris syndrome 7 False False False -DOID:0112370 Coffin-Siris syndrome 12 False False False -DOID:0112371 Coffin-Siris syndrome 10 False False False -DOID:0112372 Coffin-Siris syndrome 11 False False False DOID:0112373 autosomal dominant auditory neuropathy 3 False False False -DOID:0112374 muscular dystrophy-dystroglycanopathy False False False DOID:0112375 muscular dystrophy-dystroglycanopathy type B False False False DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 False False False DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 False False False @@ -1318,24 +768,12 @@ DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 False False False DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 False False False DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 False False False DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 False False False -DOID:0112383 KINSSHIP syndrome False False False DOID:070355 multisystem proteinopathy False False False -DOID:10993 postinfectious encephalitis False False False DOID:11166 Human papillomavirus infectious disease False False False DOID:11650 bronchopulmonary dysplasia False False False -DOID:3125 multiple endocrine neoplasia False False False -DOID:370 malignant olfactory nerve neoplasm False False False -DOID:4857 diffuse astrocytoma False False False -DOID:5157 benign pleural mesothelioma False False False -DOID:5889 anaplastic ependymoma False False False +DOID:3117 hepatobiliary benign neoplasm False False False DOID:60001 pulmonary artery disease False False False -DOID:60002 Bartholin's gland disease False False False DOID:60004 malignant cystadenoma False False False -DOID:60006 benign vascular tumor False False False -DOID:60007 cerebrovascular benign neoplasm False False False -DOID:6785 desmoplastic small round cell tumor False False False -DOID:7154 anaplastic oligodendroglioma False False False -DOID:873 anaerobic pneumonia False False False DOID:2214 obsolete inherited blood coagulation disease False False True DOID:0040003 benzylpenicillin allergy False True False DOID:0040004 amoxicillin allergy False True False @@ -1423,7 +861,6 @@ DOID:0060904 legume allergy False True False DOID:0070334 vegetable allergy False True False DOID:0070335 celery allergy False True False DOID:0080825 thunderstorm triggered asthma False True False -DOID:0080831 subjective cognitive decline False True False DOID:0080832 mild cognitive impairment False True False DOID:0081005 parsley allergy False True False DOID:0081006 dill allergy False True False @@ -4534,7 +3971,6 @@ DOID:0060014 CD45 deficiency True False False DOID:0060015 interleukin-7 receptor alpha deficiency True False False DOID:0060016 CD3delta deficiency True False False DOID:0060017 CD3epsilon deficiency True False False -DOID:0060018 CD3gamma deficiency True False False DOID:0060019 coronin-1A deficiency True False False DOID:0060020 reticular dysgenesis True False False DOID:0060021 DNA ligase IV deficiency True False False @@ -4556,6 +3992,7 @@ DOID:0060038 specific developmental disorder True False False DOID:0060039 autoimmune disease of skin and connective tissue True False False DOID:0060040 pervasive developmental disorder True False False DOID:0060041 autism spectrum disorder True False False +DOID:0060042 atypical autism True False False DOID:0060043 sexual health disorder True False False DOID:0060044 paraphilia disorder True False False DOID:0060045 Munchausen by proxy True False False @@ -4702,6 +4139,7 @@ DOID:0060200 amyotrophic lateral sclerosis type 9 True False False DOID:0060201 amyotrophic lateral sclerosis type 10 True False False DOID:0060202 amyotrophic lateral sclerosis type 11 True False False DOID:0060203 amyotrophic lateral sclerosis type 12 True False False +DOID:0060204 amyotrophic lateral sclerosis type 13 True False False DOID:0060205 amyotrophic lateral sclerosis type 14 True False False DOID:0060206 amyotrophic lateral sclerosis type 15 True False False DOID:0060207 amyotrophic lateral sclerosis type 16 True False False @@ -5413,11 +4851,11 @@ DOID:0070132 autosomal recessive cutis laxa type IIIA True False False DOID:0070133 autosomal recessive cutis laxa type IB True False False DOID:0070134 autosomal recessive cutis laxa type IIA True False False DOID:0070135 autosomal recessive cutis laxa type IA True False False -DOID:0070136 autosomal dominant cutis laxa 2 True False False DOID:0070137 autosomal recessive cutis laxa type IIB True False False DOID:0070138 autosomal recessive cutis laxa type IIIB True False False DOID:0070139 autosomal recessive cutis laxa type IC True False False DOID:0070140 autosomal recessive cutis laxa type IIC True False False +DOID:0070141 autosomal recessive cutis laxa type II classic type True False False DOID:0070142 autosomal dominant cutis laxa True False False DOID:0070143 autosomal recessive cutis laxa type III True False False DOID:0070144 autosomal recessive cutis laxa type I True False False @@ -5579,8 +5017,10 @@ DOID:0070302 multiple epiphyseal dysplasia 7 True False False DOID:0070303 multiple epiphyseal dysplasia 1 True False False DOID:0070304 multiple epiphyseal dysplasia 3 True False False DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly True False False +DOID:0070306 post-cardiac arrest syndrome True False False DOID:0070307 craniolenticulosutural dysplasia True False False DOID:0070308 rippling muscle disease 1 True False False +DOID:0070309 absence epilepsy True False False DOID:0070313 thiamine deficiency disease True False False DOID:0070314 obstructive nephropathy True False False DOID:0070315 hypoplastic right heart syndrome True False False @@ -5594,25 +5034,35 @@ DOID:0070322 childhood hepatocellular carcinoma True False False DOID:0070323 childhood acute myeloid leukemia True False False DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood True False False DOID:0070325 malignant childhood adrenal gland pheochromocytoma True False False +DOID:0070326 spitzoid melanoma True False False +DOID:0070327 melanoma in congenital melanocytic nevus True False False DOID:0070328 adult hepatocellular carcinoma True False False DOID:0070329 mitochondrial DNA depletion syndrome True False False DOID:0070330 multiple mitochondrial dysfunctions syndrome True False False DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 True False False +DOID:0070333 breast implant-associated anaplastic large cell lymphoma True False False DOID:0070337 epithelial recurrent erosion dystrophy True False False DOID:0070338 cerebellar hypoplasia True False False DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay True False False DOID:0070340 classic citrullinemia True False False DOID:0070342 adult-onset type II citrullinemia True False False +DOID:0070343 CSF1R-related brain malformation and osteopetrosis True False False DOID:0070344 ocular tuberculosis True False False DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction True False False DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies True False False DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 True False False +DOID:0070348 spinal muscular atrophy with lower extremity predominant True False False DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B True False False DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures True False False DOID:0070353 cataract 47 True False False DOID:0070354 cataract 48 True False False DOID:0070356 visual impairment and progressive phthisis bulbi True False False DOID:0070357 nephrotic syndrome type 20 True False False +DOID:0070358 primary biliary cholangitis 1 True False False +DOID:0070359 primary biliary cholangitis 2 True False False +DOID:0070360 primary biliary cholangitis 3 True False False +DOID:0070361 primary biliary cholangitis 4 True False False +DOID:0070362 primary biliary cholangitis 5 True False False DOID:0080000 muscular disease True False False DOID:0080001 bone disease True False False DOID:0080005 bone remodeling disease True False False @@ -5941,6 +5391,7 @@ DOID:0080351 CLOVES syndrome True False False DOID:0080352 X-linked chondrodysplasia punctata 2 True False False DOID:0080353 X-linked recessive hypophosphatemic rickets True False False DOID:0080354 Phelan-McDermid syndrome True False False +DOID:0080355 hepatobiliary system cancer True False False DOID:0080356 IgG4-related disease True False False DOID:0080357 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 True False False DOID:0080358 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 True False False @@ -5949,15 +5400,20 @@ DOID:0080360 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase DOID:0080361 trimethylaminuria True False False DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda True False False DOID:0080363 mitochondrial pyruvate carrier deficiency True False False +DOID:0080364 malignant adenoma True False False DOID:0080365 endometrial hyperplasia True False False DOID:0080366 desmoid tumor True False False DOID:0080367 chronic eosinophilic leukemia True False False DOID:0080368 sex cord-stromal benign neoplasm True False False DOID:0080369 ovarian sex-cord stromal tumor True False False DOID:0080370 ovarian sex cord-stromal benign neoplasm True False False +DOID:0080373 epididymis disease True False False +DOID:0080374 gastroesophageal cancer True False False +DOID:0080375 gastroesophageal adenocarcinoma True False False DOID:0080376 trichorhinophalangeal syndrome type III True False False DOID:0080377 peroxisomal biogenesis disorder True False False DOID:0080379 nephrotic syndrome type 2 True False False +DOID:0080380 nephrotic syndrome type 5 True False False DOID:0080381 nephrotic syndrome type 13 True False False DOID:0080382 nephrotic syndrome type 3 True False False DOID:0080383 nephrotic syndrome type 4 True False False @@ -5967,6 +5423,7 @@ DOID:0080386 nephrotic syndrome type 10 True False False DOID:0080387 nephrotic syndrome type 12 True False False DOID:0080388 nephrotic syndrome type 7 True False False DOID:0080389 nephrotic syndrome type 8 True False False +DOID:0080390 nephrotic syndrome type 1 True False False DOID:0080391 nephrotic syndrome type 9 True False False DOID:0080392 nephrotic syndrome type 17 True False False DOID:0080393 nephrotic syndrome type 18 True False False @@ -5985,6 +5442,8 @@ DOID:0080405 orofacial cleft 12 True False False DOID:0080406 orofacial cleft 13 True False False DOID:0080408 orofacial cleft 15 True False False DOID:0080409 familial adenomatous polyposis 1 True False False +DOID:0080410 familial adenomatous polyposis 2 True False False +DOID:0080411 familial adenomatous polyposis 3 True False False DOID:0080412 familial adenomatous polyposis 4 True False False DOID:0080413 developmental and epileptic encephalopathy 18 True False False DOID:0080414 developmental and epileptic encephalopathy 15 True False False @@ -6072,6 +5531,7 @@ DOID:0080499 ovarian dysgenesis 7 True False False DOID:0080500 ovarian dysgenesis 8 True False False DOID:0080501 GM1 gangliosidosis type 2 True False False DOID:0080502 GM1 gangliosidosis type 1 True False False +DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome True False False DOID:0080504 Parkinson's disease 22 True False False DOID:0080505 Cornelia de Lange syndrome 1 True False False DOID:0080506 Cornelia de Lange syndrome 2 True False False @@ -6158,18 +5618,24 @@ DOID:0080592 Klippel-Feil syndrome 4 True False False DOID:0080593 orofacial cleft 6 True False False DOID:0080595 hyper IgE recurrent infection syndrome 3 True False False DOID:0080596 hyper IgE recurrent infection syndrome 4 True False False +DOID:0080597 Kleefstra syndrome True False False DOID:0080598 Kleefstra syndrome 2 True False False DOID:0080599 Coronavirus infectious disease True False False DOID:0080600 COVID-19 True False False DOID:0080603 ankylosing spondylitis 1 True False False DOID:0080604 ankylosing spondylitis 2 True False False DOID:0080605 ankylosing spondylitis 3 True False False +DOID:0080606 anterior segment dysgenesis 1 True False False DOID:0080608 anterior segment dysgenesis 3 True False False DOID:0080609 anterior segment dysgenesis 4 True False False DOID:0080611 anterior segment dysgenesis 6 True False False +DOID:0080612 anterior segment dysgenesis 7 True False False DOID:0080613 anterior segment dysgenesis 8 True False False DOID:0080614 oculocutaneous albinism type VI True False False +DOID:0080615 nephroma True False False DOID:0080617 lymph node benign neoplasm True False False +DOID:0080618 lymph node carcinoma True False False +DOID:0080619 auditory system benign neoplasm True False False DOID:0080620 familial glucocorticoid deficiency True False False DOID:0080621 glucocorticoid deficiency 1 True False False DOID:0080622 peroxisome biogenesis disorder 2B True False False @@ -6188,18 +5654,238 @@ DOID:0080634 nanophthalmos True False False DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy True False False DOID:0080636 syndromic microphthalmia True False False DOID:0080637 isolated microphthalmia True False False +DOID:0080638 B-cell acute lymphoblastic leukemia True False False DOID:0080639 bone sarcoma True False False DOID:0080640 gallbladder benign neoplasm True False False +DOID:0080641 tongue carcinoma True False False DOID:0080642 Middle East respiratory syndrome True False False +DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 True False False +DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged True False False +DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 True False False +DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy True False False +DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy True False False +DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH True False False DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 True False False +DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like True False False +DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 True False False DOID:0080653 urolithiasis True False False DOID:0080654 uric acid urolithiasis True False False DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis True False False DOID:0080656 45,X/46,XY mixed gonadal dysgenesis True False False +DOID:0080662 atrial standstill 1 True False False +DOID:0080663 atrial standstill 2 True False False +DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma True False False +DOID:0080672 fibrochondrogenesis 1 True False False +DOID:0080673 fibrochondrogenesis 2 True False False +DOID:0080674 luminal breast carcinoma B True False False +DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant True False False +DOID:0080679 neuronal intestinal dysplasia type A True False False +DOID:0080680 neuronal intestinal dysplasia type B True False False +DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction True False False +DOID:0080682 autosomal dominant familial visceral neuropathy True False False +DOID:0080683 nonsyndromic congenital nail disorder True False False +DOID:0080688 mosaic variegated aneuploidy syndrome True False False +DOID:0080689 mosaic variegated aneuploidy syndrome 3 True False False +DOID:0080690 RASopathy True False False +DOID:0080691 Noonan syndrome-like disorder with loose anagen hair True False False +DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 True False False +DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 True False False DOID:0080694 Galloway-Mowat syndrome True False False +DOID:0080695 Burn-McKeown syndrome True False False +DOID:0080696 Winchester syndrome True False False +DOID:0080698 Teebi hypertelorism syndrome 1 True False False +DOID:0080699 glutathione synthetase deficiency True False False +DOID:0080701 prothrombin thrombophilia True False False +DOID:0080709 NK cell deficiency True False False +DOID:0080710 T cell and NK cell immunodeficiency True False False DOID:0080711 multisystem inflammatory syndrome in children True False False +DOID:0080714 hereditary alpha tryptasemia syndrome True False False +DOID:0080717 infantile liver failure syndrome 1 True False False +DOID:0080718 GNE myopathy True False False +DOID:0080720 autosomal dominant congenital deafness with onychodystrophy True False False +DOID:0080724 Kenny-Caffey syndrome True False False +DOID:0080729 brittle cornea syndrome 2 True False False +DOID:0080740 Libman-Sacks endocarditis True False False +DOID:0080741 limbic encephalitis True False False +DOID:0080743 transverse myelitis True False False +DOID:0080744 antisynthetase syndrome True False False +DOID:0080745 polymyositis True False False +DOID:0080746 Sweet syndrome True False False +DOID:0080751 keratosis pilaris atrophicans True False False +DOID:0080753 keratosis follicularis spinulosa decalvans True False False +DOID:0080756 atrophoderma vermiculata True False False +DOID:0080757 Fanconi renotubular syndrome 1 True False False +DOID:0080758 Fanconi renotubular syndrome 2 True False False +DOID:0080759 Fanconi renotubular syndrome 3 True False False +DOID:0080760 Fanconi renotubular syndrome 4 True False False +DOID:0080761 Fanconi renotubular syndrome 5 True False False DOID:0080763 diffuse gastric cancer True False False +DOID:0080766 erythrokeratodermia variabilis et progressiva 6 True False False +DOID:0080767 autoimmune myocarditis True False False +DOID:0080768 pyridoxine-dependent epilepsy True False False +DOID:0080771 beta-thalassemia major True False False +DOID:0080772 beta-thalassemia intermedia True False False +DOID:0080774 thalassemia minor True False False +DOID:0080775 complete androgen insensitivity syndrome True False False +DOID:0080776 partial androgen insensitivity syndrome True False False +DOID:0080777 lung sarcomatoid carcinoma True False False +DOID:0080779 plasmablastic lymphoma True False False +DOID:0080780 acute erythroid leukemia True False False +DOID:0080781 benign exocrine pancreas neoplasm True False False +DOID:0080784 urinary tract infection True False False +DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 True False False +DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 True False False +DOID:0080789 Treacher Collins syndrome 1 True False False +DOID:0080790 Treacher Collins syndrome 2 True False False +DOID:0080791 Treacher Collins syndrome 3 True False False +DOID:0080792 Treacher Collins syndrome 4 True False False +DOID:0080795 acute basophilic leukemia True False False +DOID:0080797 nasal type extranodal NK/T-cell lymphoma True False False +DOID:0080799 sinonasal undifferentiated carcinoma True False False +DOID:0080800 salivary gland mucinous adenocarcinoma True False False +DOID:0080803 cranioectodermal dysplasia 1 True False False +DOID:0080804 cranioectodermal dysplasia 2 True False False +DOID:0080805 cranioectodermal dysplasia 3 True False False +DOID:0080806 cranioectodermal dysplasia 4 True False False +DOID:0080808 mammary analogue secretory carcinoma True False False +DOID:0080815 childhood-onset asthma True False False +DOID:0080820 occupational asthma True False False +DOID:0080828 VEXAS syndrome True False False +DOID:0080829 low grade glioma True False False +DOID:0080833 laryngomalacia True False False +DOID:0080834 acquired laryngomalacia True False False +DOID:0080835 TORCH syndrome True False False +DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 True False False +DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 True False False +DOID:0080840 optic atrophy 12 True False False +DOID:0080848 long COVID True False False +DOID:0080849 ocular motor apraxia, Cogan type True False False +DOID:0080850 pemphigus foliaceus True False False +DOID:0080851 IgA pemphigus True False False +DOID:0080852 paraneoplastic pemphigus True False False +DOID:0080883 vitamin D-dependent rickets True False False +DOID:0080888 spinal ependymoma, MYCN-amplified True False False +DOID:0080892 RELA fusion-positive ependymoma True False False +DOID:0080893 Bainbridge-Ropers syndrome True False False +DOID:0080895 rapidly involuting congenital hemangioma True False False +DOID:0080896 pericytoma with t(7;12) True False False +DOID:0080898 cerebellofaciodental syndrome True False False +DOID:0080899 lung pleomorphic carcinoma True False False +DOID:0080901 bladder sarcomatoid transitional cell carcinoma True False False +DOID:0080902 bladder small cell carcinoma True False False DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered True False False +DOID:0080905 central nervous system neuroblastoma True False False +DOID:0080911 cerebrooculofacioskeletal syndrome 1 True False False +DOID:0080912 cerebrooculofacioskeletal syndrome 2 True False False +DOID:0080913 cerebrooculofacioskeletal syndrome 3 True False False +DOID:0080914 cerebrooculofacioskeletal syndrome 4 True False False +DOID:0080915 histiocytic sarcoma True False False +DOID:0080917 sporatic amyotrophic lateral sclerosis True False False +DOID:0080918 polymicrogyria True False False +DOID:0080919 unilateral focal polymicrogyria True False False +DOID:0080920 bilateral generalized polymicrogyria True False False +DOID:0080921 bilateral frontal polymicrogyria True False False +DOID:0080922 bilateral frontoparietal polymicrogyria True False False +DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria True False False +DOID:0080924 bilateral perisylvian polymicrogyria True False False +DOID:0080926 7q11.23 duplication syndrome True False False +DOID:0080928 dialysis-related amyloidosis True False False +DOID:0080929 variant ABeta2M amyloidosis True False False +DOID:0080932 primary localized cutaneous amyloidosis 3 True False False +DOID:0080936 serum amyloid A amyloidosis True False False +DOID:0080937 wild-type amyloidosis True False False +DOID:0080938 nonobstructive coronary artery disease True False False +DOID:0080941 acquired angioedema True False False +DOID:0080942 anauxetic dysplasia True False False +DOID:0080943 46,XX sex reversal 5 True False False +DOID:0080944 familial Behcet-like autoinflammatory syndrome True False False +DOID:0080945 abdominal obesity-metabolic syndrome 4 True False False +DOID:0080946 retinal dystrophy with leukodystrophy True False False +DOID:0080947 acute flaccid myelitis True False False +DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome True False False +DOID:0080949 alcoholic ketoacidosis True False False +DOID:0080952 AMED syndrome True False False +DOID:0080954 arthrogryposis multiplex congenita True False False +DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered True False False +DOID:0080957 primary hypoalphalipoproteinemia 1 True False False +DOID:0080958 primary hypoalphalipoproteinemia 2 True False False +DOID:0080959 arrhythmogenic right ventricular dysplasia 14 True False False +DOID:0080962 anauxetic dysplasia 2 True False False +DOID:0080963 anauxetic dysplasia 3 True False False +DOID:0080976 acute myeloid leukemia with BCR-ABL1 True False False +DOID:0080977 aortic valve disease 3 True False False +DOID:0080988 pretibial dystrophic epidermolysis bullosa True False False +DOID:0081000 Cowden syndrome 4 True False False +DOID:0081001 Cowden syndrome 5 True False False +DOID:0081002 Cowden syndrome 6 True False False +DOID:0081003 Cowden syndrome 7 True False False +DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit True False False +DOID:0081008 intellectual developmental disorder with cardiac arrhythmia True False False +DOID:0081009 Bardet-Biedl syndrome 20 True False False +DOID:0081010 Bardet-Biedl syndrome 21 True False False +DOID:0081011 Bardet-Biedl syndrome 22 True False False +DOID:0081021 Tukel syndrome True False False +DOID:0081022 retinal cone dystrophy 3B True False False +DOID:0081023 retinal cone dystrophy 4 True False False +DOID:0081024 retinal cone dystrophy 1 True False False +DOID:0081025 retinal cone dystrophy 3A True False False +DOID:0081026 benign peritoneal solitary fibrous tumor True False False +DOID:0081028 glycogen-rich carcinoma True False False +DOID:0081041 B-cell prolymphocytic leukemia True False False +DOID:0081042 T-cell prolymphocytic leukemia True False False +DOID:0081044 frontonasal dysplasia True False False +DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome True False False +DOID:0081049 hepatosplenic T-cell lymphoma True False False +DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma True False False +DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations True False False +DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure True False False +DOID:0081055 central diabetes insipidus True False False +DOID:0081057 gestational diabetes insipidus True False False +DOID:0081058 dipsogenic diabetes insipidus True False False +DOID:0081063 DICER1 syndrome True False False +DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome True False False +DOID:0081073 Teebi hypertelorism syndrome True False False +DOID:0081074 Teebi hypertelorism syndrome 2 True False False +DOID:0081075 Marsili syndrome True False False +DOID:0081076 blastic plasmacytoid dendritic cell neoplasm True False False +DOID:0081077 ectodermal dysplasia and immune deficiency True False False +DOID:0081078 ectodermal dysplasia and immunodeficiency 1 True False False +DOID:0081079 ectodermal dysplasia and immunodeficiency 2 True False False +DOID:0081085 acute myeloid leukemia with minimal differentiation True False False +DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive True False False +DOID:0081089 acute myeloid leukemia with mutated NPM1 True False False +DOID:0081097 Rafiq syndrome True False False +DOID:0081101 nonautoimmune hyperthyroidism True False False +DOID:0081102 familial gestational hyperthyroidism True False False +DOID:0081109 keratosis palmoplantaris striata 2 True False False +DOID:0081110 keratosis palmoplantaris striata 3 True False False +DOID:0081111 osteosclerotic metaphyseal dysplasia True False False +DOID:0081112 Baraitser-Winter syndrome 1 True False False +DOID:0081113 Baraitser-Winter syndrome 2 True False False +DOID:0081120 Graves ophthalmopathy True False False +DOID:0081121 inclusion body myopathy and brain white matter abnormalities True False False +DOID:0081126 DeSanto-Shinawi syndrome True False False +DOID:0081127 mandibuloacral dysplasia True False False +DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia True False False +DOID:0081157 dilated cardiomyopathy 1LL True False False +DOID:0081158 dilated cardiomyopathy 1MM True False False +DOID:0081159 dilated cardiomyopathy 2C True False False +DOID:0081160 dilated cardiomyopathy 2D True False False +DOID:0081161 dilated cardiomyopathy 2E True False False +DOID:0081162 dilated cardiomyopathy 2F True False False +DOID:0081163 dilated cardiomyopathy 2G True False False +DOID:0081164 dilated cardiomyopathy 3B True False False +DOID:0081168 HMG-CoA synthase 2 deficiency True False False +DOID:0081169 Leber congenital amaurosis 19 True False False +DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies True False False +DOID:0081176 hypotonia, ataxia, and delayed development syndrome True False False +DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 True False False +DOID:0081240 peroxisome biogenesis disorder 1B True False False +DOID:0081247 dedifferentiated chondrosarcoma True False False +DOID:0081248 pineocytoma True False False +DOID:0081251 papillary tumor of the pineal region True False False +DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma True False False +DOID:0081261 angiocentric glioma True False False DOID:0090001 Fraser syndrome True False False DOID:0090002 Tietz syndrome True False False DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy True False False @@ -7458,7 +7144,6 @@ DOID:0111152 multicentric Castleman disease True False False DOID:0111153 congenital mirror movement disorder True False False DOID:0111154 postural orthostatic tachycardia syndrome True False False DOID:0111155 autosomal recessive spinocerebellar ataxia 21 True False False -DOID:0111156 spermatogenic failure 9 True False False DOID:0111157 Castleman disease True False False DOID:0111158 SADDAN True False False DOID:0111159 partial trisomy distal 4q True False False @@ -7506,6 +7191,7 @@ DOID:0111213 distal spinal muscular atrophy type 4 True False False DOID:0111215 distal hereditary motor neuronopathy type 8 True False False DOID:0111216 autosomal recessive centronuclear myopathy True False False DOID:0111217 autosomal dominant centronuclear myopathy True False False +DOID:0111218 Friedreich ataxia 1 True False False DOID:0111219 Friedreich ataxia 2 True False False DOID:0111220 centronuclear myopathy 2 True False False DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion True False False @@ -7557,6 +7243,7 @@ DOID:0111271 Oliver-McFarlane syndrome True False False DOID:0111272 occipital horn syndrome True False False DOID:0111273 NARP syndrome True False False DOID:0111274 CODAS syndrome True False False +DOID:0111275 speech-language disorder-1 True False False DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis True False False DOID:0111277 mitochondrial trifunctional protein deficiency True False False DOID:0111279 psoriasis 7 True False False @@ -7629,6 +7316,7 @@ DOID:0111345 transient bullous dermolysis of the newborn True False False DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation True False False DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails True False False DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness True False False +DOID:0111349 hereditary desmoid disease True False False DOID:0111350 Laurin-Sandrow syndrome True False False DOID:0111351 D-2-hydroxyglutaric aciduria 1 True False False DOID:0111352 D-2-hydroxyglutaric aciduria 2 True False False @@ -7648,6 +7336,7 @@ DOID:0111365 benign familial hematuria True False False DOID:0111366 familial hepatic adenoma True False False DOID:0111367 Beukes hip dysplasia True False False DOID:0111368 cholesterol-ester transfer protein deficiency True False False +DOID:0111369 hyperalphalipoproteinemia 1 True False False DOID:0111370 apolipoprotein C-III deficiency True False False DOID:0111371 isolated hyperchlorhidrosis True False False DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation True False False @@ -7665,6 +7354,7 @@ DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 True False False DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 True False False DOID:0111387 familial isolated hypoparathyroidism True False False +DOID:0111388 X-linked hypoparathyroidism True False False DOID:0111389 mucopolysaccharidosis Ih/s True False False DOID:0111390 mucopolysaccharidosis Ih True False False DOID:0111391 mucopolysaccharidosis IVA True False False @@ -7864,6 +7554,7 @@ DOID:0111588 Greenberg dysplasia True False False DOID:0111589 COACH syndrome True False False DOID:0111590 Cohen syndrome True False False DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly True False False +DOID:0111592 plasminogen deficiency type I True False False DOID:0111593 distal arthrogryposis type 10 True False False DOID:0111594 distal arthrogryposis type 5D True False False DOID:0111595 congenital contractural arachnodactyly True False False @@ -7873,8 +7564,10 @@ DOID:0111599 distal arthrogryposis type 2B True False False DOID:0111600 distal arthrogryposis type 2B1 True False False DOID:0111601 distal arthrogryposis type 2B2 True False False DOID:0111602 distal arthrogryposis type 2B3 True False False +DOID:0111603 distal arthrogryposis type 7 True False False DOID:0111604 Freeman-Sheldon syndrome True False False DOID:0111606 autosomal recessive Whistling face syndrome True False False +DOID:0111608 distal arthrogryposis type 5 True False False DOID:0111611 autosomal recessive spinocerebellar ataxia 4 True False False DOID:0111612 autosomal recessive spinocerebellar ataxia 3 True False False DOID:0111613 autosomal recessive spinocerebellar ataxia 23 True False False @@ -7886,6 +7579,7 @@ DOID:0111618 autosomal recessive spinocerebellar ataxia 8 True False False DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria True False False DOID:0111620 corneal dystrophy-perceptive deafness syndrome True False False DOID:0111621 Temtamy syndrome True False False +DOID:0111622 ACTH-independent macronodular adrenal hyperplasia True False False DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 True False False DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 True False False DOID:0111625 ventriculomegaly - cystic kidney disease True False False @@ -7968,11 +7662,14 @@ DOID:0111702 loose anagen hair syndrome True False False DOID:0111703 familial hypertryptophanemia True False False DOID:0111704 chromosome 2q37 deletion syndrome True False False DOID:0111705 oculoectodermal syndrome True False False +DOID:0111706 oblique facial clefting 1 True False False DOID:0111707 Bothnian type palmoplantar keratoderma True False False DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 True False False +DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma True False False DOID:0111712 Kagami-Ogata syndrome True False False DOID:0111713 Temple syndrome True False False DOID:0111714 Mulchandani-Bhoj-Conlin syndrome True False False +DOID:0111715 Schaaf-Yang syndrome True False False DOID:0111716 cryptophthalmia True False False DOID:0111717 isolated cryptophthalmia True False False DOID:0111718 partial cryptophthalmia True False False @@ -8009,9 +7706,11 @@ DOID:0111753 infantile hypertrophic cardiomyopathy True False False DOID:0111754 Leber plus disease True False False DOID:0111755 Leber hereditary optic neuropathy and dystonia True False False DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS True False False +DOID:0111757 Y-linked deafness True False False DOID:0111758 Y-linked deafness 2 True False False DOID:0111759 Y-linked deafness 1 True False False DOID:0111760 46,XX sex reversal True False False +DOID:0111761 46,XX sex reversal 1 True False False DOID:0111762 46,XX sex reversal 3 True False False DOID:0111763 46,XX sex reversal 2 True False False DOID:0111764 46,XX sex reversal 4 True False False @@ -8040,14 +7739,303 @@ DOID:0111786 frontometaphyseal dysplasia 1 True False False DOID:0111787 frontometaphyseal dysplasia 2 True False False DOID:0111788 Melnick-Needles syndrome True False False DOID:0111789 Frank-Ter Haar syndrome True False False +DOID:0111799 syndromic microphthalmia 1 True False False +DOID:0111801 syndromic microphthalmia 3 True False False +DOID:0111802 syndromic microphthalmia 14 True False False +DOID:0111803 syndromic microphthalmia 8 True False False DOID:0111807 syndromic microphthalmia 9 True False False +DOID:0111808 linear skin defects with multiple congenital anomalies 1 True False False +DOID:0111813 syndactyly type 8 True False False +DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type True False False +DOID:0111816 syndactyly type 1 True False False +DOID:0111817 syndactyly type 3 True False False +DOID:0111818 syndactyly type 4 True False False +DOID:0111819 syndactyly type 5 True False False +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 True False False +DOID:0111822 CHILD syndrome True False False +DOID:0111824 Aarskog syndrome True False False +DOID:0111825 autosomal dominant Aarskog syndrome True False False +DOID:0111826 Abruzzo-Erickson syndrome True False False +DOID:0111827 X-linked spinal muscular atrophy 2 True False False +DOID:0111828 X-linked cerebellar ataxia True False False +DOID:0111834 X-linked reticulate pigmentary disorder True False False +DOID:0111837 congenital nongoitrous hypothyroidism 8 True False False +DOID:0111838 Basilicata-Akhtar syndrome True False False +DOID:0111841 Shukla-Vernon syndrome True False False +DOID:0111842 Keipert syndrome True False False +DOID:0111843 Paganini-Miozzo syndrome True False False +DOID:0111845 Mullegama-Klein-Martinez syndrome True False False +DOID:0111846 X-linked congenital hemolytic anemia True False False +DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis True False False +DOID:0111860 AMME complex True False False +DOID:0111861 Meester-Loeys syndrome True False False +DOID:0111862 congenital bilateral absence of vas deferens True False False +DOID:0111865 MEND syndrome True False False +DOID:0111866 trichothiodystrophy True False False +DOID:0111869 photosensitive trichothiodystrophy 2 True False False +DOID:0111871 photosensitive trichothiodystrophy 3 True False False +DOID:0111873 photosensitive trichothiodystrophy 1 True False False +DOID:0111874 Sabinas brittle hair syndrome True False False +DOID:0111875 MLS syndrome True False False +DOID:0111876 linear skin defects with multiple congenital anomalies 3 True False False +DOID:0111877 linear skin defects with multiple congenital anomalies 2 True False False +DOID:0111878 Diamond-Blackfan anemia 7 True False False +DOID:0111879 Diamond-Blackfan anemia 6 True False False +DOID:0111880 Diamond-Blackfan anemia 17 True False False +DOID:0111881 Diamond-Blackfan anemia 8 True False False +DOID:0111882 Diamond-Blackfan anemia 12 True False False +DOID:0111883 Diamond-Blackfan anemia 5 True False False +DOID:0111884 Diamond-Blackfan anemia 9 True False False +DOID:0111885 Diamond-Blackfan anemia 2 True False False +DOID:0111886 Diamond-Blackfan anemia 19 True False False +DOID:0111887 Diamond-blackfan anemia 3 True False False +DOID:0111888 Diamond-Blackfan anemia 10 True False False +DOID:0111889 Diamond-Blackfan anemia 13 True False False +DOID:0111890 Diamond-Blackfan anemia 4 True False False +DOID:0111891 Diamond-Blackfan anemia 20 True False False +DOID:0111892 Diamond-Blackfan anemia 11 True False False +DOID:0111893 Diamond-Blackfan anemia 16 True False False +DOID:0111895 Diamond-Blackfan anemia 1 True False False +DOID:0111896 Diamond-Blackfan anemia 18 True False False +DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis True False False +DOID:0111898 CK syndrome True False False +DOID:0111899 X-linked thrombophilia due to factor IX defect True False False +DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency True False False +DOID:0111901 heparin cofactor II deficiency True False False +DOID:0111902 thrombophilia due to activated protein C resistance True False False +DOID:0111903 thrombophilia due to HRG deficiency True False False +DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency True False False +DOID:0111906 thrombophilia due to decreased release of PLAT True False False +DOID:0111907 thrombophilia due to thrombin defect True False False +DOID:0111908 thrombophilia due to thrombomodulin defect True False False DOID:0111910 spermatogenic failure True False False +DOID:0111911 spermatogenic failure 34 True False False +DOID:0111912 spermatogenic failure 41 True False False +DOID:0111913 spermatogenic failure 30 True False False +DOID:0111914 spermatogenic failure 35 True False False +DOID:0111915 spermatogenic failure 33 True False False +DOID:0111916 spermatogenic failure 28 True False False +DOID:0111917 spermatogenic failure 43 True False False +DOID:0111918 spermatogenic failure 40 True False False +DOID:0111919 spermatogenic failure 38 True False False +DOID:0111920 spermatogenic failure 25 True False False +DOID:0111921 spermatogenic failure 36 True False False +DOID:0111922 spermatogenic failure 31 True False False +DOID:0111923 spermatogenic failure 42 True False False +DOID:0111924 spermatogenic failure 26 True False False +DOID:0111925 spermatogenic failure 32 True False False +DOID:0111926 spermatogenic failure 39 True False False +DOID:0111927 spermatogenic failure 37 True False False +DOID:0111928 spermatogenic failure 27 True False False +DOID:0111929 spermatogenic failure 24 True False False +DOID:0111930 spermatogenic failure 29 True False False +DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome True False False +DOID:0111934 immunodeficiency 38 True False False +DOID:0111936 immunodeficiency 14 True False False +DOID:0111939 immunodeficiency 37 True False False +DOID:0111941 immunodeficiency 20 True False False +DOID:0111942 immunodeficiency 25 True False False +DOID:0111944 immunodeficiency 31B True False False +DOID:0111945 immunodeficiency 31A True False False +DOID:0111946 immunodeficiency 31C True False False +DOID:0111947 immunodeficiency 21 True False False +DOID:0111949 immunodeficiency 36 True False False +DOID:0111950 immunodeficiency 29 True False False +DOID:0111952 immunodeficiency 57 True False False +DOID:0111953 immunodeficiency 23 True False False +DOID:0111954 immunodeficiency 60 True False False +DOID:0111955 immunodeficiency 27A True False False +DOID:0111956 immunodeficiency 27B True False False +DOID:0111958 immunodeficiency 11B True False False +DOID:0111960 immunodeficiency 15A True False False +DOID:0111962 combined immunodeficiency True False False +DOID:0111963 dendritic cell deficiency True False False +DOID:0111969 immunodeficiency 39 True False False +DOID:0111971 immunodeficiency 18 True False False +DOID:0111972 immunodeficiency 19 True False False +DOID:0111973 immunodeficiency 17 True False False +DOID:0111975 immunodeficiency 44 True False False DOID:0111977 immunodeficiency 7 True False False +DOID:0111978 immunodeficiency 65 True False False +DOID:0111979 immunodeficiency 49 True False False +DOID:0111980 immunodeficiency 64 True False False +DOID:0111983 immunodeficiency 52 True False False +DOID:0111985 immunodeficiency 32B True False False +DOID:0111987 immunodeficiency 13 True False False +DOID:0111989 immunodeficiency 35 True False False +DOID:0111991 immunodeficiency 62 True False False +DOID:0111992 immunodeficiency 53 True False False +DOID:0111994 immunodeficiency 45 True False False +DOID:0111995 immunodeficiency 28 True False False +DOID:0111996 immunodeficiency 51 True False False +DOID:0111998 immunodeficiency 66 True False False +DOID:0111999 immunodeficiency 61 True False False +DOID:0112002 immunodeficiency 47 True False False +DOID:0112003 immunodeficiency 33 True False False +DOID:0112005 immunodeficiency 70 True False False +DOID:0112006 immunodeficiency 69 True False False +DOID:0112037 chromosome Xp11.22 duplication syndrome True False False +DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome True False False +DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia True False False +DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia True False False +DOID:0112063 X-Linked immunodeficiency 74 True False False +DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis True False False +DOID:0112103 Sotos syndrome 1 True False False +DOID:0112104 Sotos syndrome 3 True False False +DOID:0112105 X-linked parkinsonism-spasticity syndrome True False False +DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia True False False +DOID:0112108 myofibrillar myopathy 10 True False False +DOID:0112109 spermatogenic failure 44 True False False +DOID:0112110 combined oxidative phosphorylation deficiency 49 True False False +DOID:0112111 combined oxidative phosphorylation deficiency 50 True False False +DOID:0112112 combined oxidative phosphorylation deficiency 48 True False False +DOID:0112113 combined oxidative phosphorylation deficiency 45 True False False +DOID:0112114 combined oxidative phosphorylation deficiency 47 True False False +DOID:0112115 combined oxidative phosphorylation deficiency 46 True False False +DOID:0112116 combined oxidative phosphorylation deficiency 43 True False False +DOID:0112117 combined oxidative phosphorylation deficiency 40 True False False +DOID:0112118 combined oxidative phosphorylation deficiency 42 True False False +DOID:0112119 combined oxidative phosphorylation deficiency 41 True False False +DOID:0112120 SHOX-related short stature True False False +DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis True False False +DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders True False False +DOID:0112123 deafness, dystonia, and cerebral hypomyelination True False False +DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections True False False +DOID:0112125 alpha-thalassemia myelodysplasia syndrome True False False +DOID:0112128 X-linked severe congenital neutropenia True False False +DOID:0112130 autosomal dominant severe congenital neutropenia True False False +DOID:0112137 combined oxidative phosphorylation deficiency 51 True False False +DOID:0112140 retinitis pigmentosa 83 True False False +DOID:0112141 retinitis pigmentosa 84 True False False +DOID:0112142 retinitis pigmentosa 85 True False False +DOID:0112143 retinitis pigmentosa 86 True False False +DOID:0112144 retinitis pigmentosa 87 True False False +DOID:0112145 retinitis pigmentosa 88 True False False +DOID:0112146 retinitis pigmentosa 89 True False False +DOID:0112147 retinitis pigmentosa 90 True False False +DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome True False False +DOID:0112149 terminal osseous dysplasia True False False +DOID:0112150 X-linked spondyloepimetaphyseal dysplasia True False False +DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome True False False +DOID:0112152 CHIME syndrome True False False +DOID:0112154 inflammatory bowel disease 30 True False False +DOID:0112155 inflammatory bowel disease 29 True False False +DOID:0112156 X-linked dyserythropoietic anemia True False False +DOID:0112157 X-linked atrophic macular degeneration True False False +DOID:0112158 De Sanctis-Cacchione syndrome True False False +DOID:0112161 Noonan syndrome 13 True False False +DOID:0112163 spermatogenic failure 45 True False False +DOID:0112164 spermatogenic failure 46 True False False +DOID:0112169 Noonan syndrome 11 True False False +DOID:0112170 Noonan syndrome 12 True False False +DOID:0112171 wrinkly skin syndrome True False False +DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors True False False +DOID:0112175 spermatogenic failure 47 True False False +DOID:0112176 spermatogenic failure 48 True False False +DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome True False False +DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 True False False +DOID:0112181 Schinzel type phocomelia True False False +DOID:0112182 mismatch repair cancer syndrome True False False +DOID:0112183 familial thyroid dyshormonogenesis True False False +DOID:0112184 thyroid dyshormonogenesis 5 True False False +DOID:0112186 thyroid dyshormonogenesis 2A True False False +DOID:0112187 thyroid dyshormonogenesis 3 True False False +DOID:0112188 thyroid dyshormonogenesis 4 True False False +DOID:0112189 thyroid dyshormonogenesis 6 True False False +DOID:0112191 tetraamelia syndrome True False False +DOID:0112192 tetraamelia syndrome 1 True False False +DOID:0112193 tetraamelia syndrome 2 True False False +DOID:0112194 Filippi syndrome True False False +DOID:0112195 spondyloperipheral dysplasia True False False DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity True False False DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 True False False DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 True False False DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 True False False +DOID:0112202 developmental and epileptic encephalopathy True False False +DOID:0112223 developmental and epileptic encephalopathy 89 True False False +DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome True False False +DOID:0112227 tubulinopathy True False False +DOID:0112228 lissencephaly 9 with complex brainstem malformation True False False +DOID:0112229 lissencephaly 10 True False False +DOID:0112231 lissencephaly 7 with cerebellar hypoplasia True False False +DOID:0112232 lissencephaly 3 True False False +DOID:0112233 lissencephaly 8 True False False +DOID:0112234 microlissencephaly True False False +DOID:0112235 lissencephaly 4 True False False +DOID:0112237 lissencephaly 1 True False False +DOID:0112239 X-linked lissencephaly 1 True False False +DOID:0112240 Leber congenital amaurosis with early-onset deafness True False False +DOID:0112241 multiple benign circumferential skin creases on limbs True False False +DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome True False False +DOID:0112246 glutaric acidemia type 3 True False False +DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder True False False +DOID:0112249 GAPO syndrome True False False +DOID:0112251 Ghosal hematodiaphyseal syndrome True False False +DOID:0112254 hepatic venoocclusive disease with immunodeficiency True False False +DOID:0112255 homocystinuria-megaloblastic anemia cblE type True False False +DOID:0112256 homocystinuria-megaloblastic anemia cblG type True False False +DOID:0112257 hydroxykynureninuria True False False +DOID:0112259 Leydig cell hypoplasia True False False +DOID:0112260 Leydig cell hypoplasia type I True False False +DOID:0112261 Leydig cell hypoplasia type II True False False +DOID:0112262 leucine-sensitive hypoglycemia of infancy True False False +DOID:0112264 Woodhouse-Sakati syndrome True False False +DOID:0112265 iminoglycinuria True False False +DOID:0112266 nephrotic syndrome type 23 True False False +DOID:0112267 nephrotic syndrome type 21 True False False +DOID:0112268 nephrotic syndrome type 22 True False False +DOID:0112270 spermatogenic failure 52 True False False +DOID:0112271 spermatogenic failure 49 True False False +DOID:0112273 spermatogenic failure 51 True False False +DOID:0112274 X-linked spermatogenic failure 3 True False False +DOID:0112276 neurodevelopmental disorder with involuntary movements True False False +DOID:0112277 immunodeficiency 79 True False False +DOID:0112279 spermatogenic failure 53 True False False DOID:0112280 spondyloepiphyseal dysplasia True False False +DOID:0112284 spondyloepiphyseal dysplasia tarda True False False +DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy True False False +DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies True False False +DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis True False False +DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability True False False +DOID:0112295 spondylometaphyseal dysplasia True False False +DOID:0112299 axial spondylometaphyseal dysplasia True False False +DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy True False False +DOID:0112306 Mahvash Disease True False False +DOID:0112307 sarcosinemia True False False +DOID:0112308 central precocious puberty True False False +DOID:0112311 male infertility due to acephalic spermatozoa True False False +DOID:0112312 male infertility due to globozoospermia True False False +DOID:0112315 brain small vessel disease 3 True False False +DOID:0112316 methemoglobinemia and ambiguous genitalia True False False +DOID:0112317 Schindler disease True False False +DOID:0112320 Schindler disease type 3 True False False +DOID:0112322 pontocerebellar hypoplasia type 1 True False False +DOID:0112328 pontocerebellar hypoplasia type 2 True False False +DOID:0112335 spermatogenic failure 54 True False False +DOID:0112336 spermatogenic failure 56 True False False +DOID:0112337 spermatogenic failure 55 True False False +DOID:0112338 spermatogenic failure 57 True False False +DOID:0112339 Tatton-Brown-Rahman syndrome True False False +DOID:0112349 hereditary spastic paraplegia 81 True False False +DOID:0112350 spermatogenic failure 61 True False False +DOID:0112351 spermatogenic failure 62 True False False +DOID:0112352 spermatogenic failure 58 True False False +DOID:0112353 spermatogenic failure 64 True False False +DOID:0112354 spermatogenic failure 65 True False False +DOID:0112355 spermatogenic failure 60 True False False +DOID:0112356 spermatogenic failure 63 True False False +DOID:0112357 spermatogenic failure 59 True False False +DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies True False False +DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay True False False +DOID:0112363 spondylocostal dysostosis 5 True False False +DOID:0112367 Coffin-Siris syndrome 8 True False False +DOID:0112368 Coffin-Siris syndrome 5 True False False +DOID:0112369 Coffin-Siris syndrome 7 True False False +DOID:0112370 Coffin-Siris syndrome 12 True False False +DOID:0112371 Coffin-Siris syndrome 10 True False False +DOID:0112372 Coffin-Siris syndrome 11 True False False +DOID:0112374 muscular dystrophy-dystroglycanopathy True False False +DOID:0112383 KINSSHIP syndrome True False False DOID:100 intestinal infectious disease True False False DOID:10003 sensorineural hearing loss True False False DOID:10011 thyroid lymphoma True False False @@ -8419,6 +8407,7 @@ DOID:10989 conjunctival vascular disease True False False DOID:1099 alpha thalassemia True False False DOID:10991 basal ganglia cerebrovascular disease True False False DOID:10992 acute hemorrhagic leukoencephalitis True False False +DOID:10993 postinfectious encephalitis True False False DOID:10997 immature cataract True False False DOID:110 lens disease True False False DOID:1100 ovarian disease True False False @@ -10478,13 +10467,13 @@ DOID:3112 papillary adenocarcinoma True False False DOID:3113 papillary carcinoma True False False DOID:3114 serous cystadenocarcinoma True False False DOID:3116 kidney benign neoplasm True False False -DOID:3117 hepatobiliary benign neoplasm True False False DOID:3118 hepatobiliary disease True False False DOID:3119 gastrointestinal system cancer True False False DOID:312 tenosynovitis of foot and ankle True False False DOID:3120 gallbladder papillomatosis True False False DOID:3121 gallbladder cancer True False False DOID:3122 gastric outlet obstruction True False False +DOID:3125 multiple endocrine neoplasia True False False DOID:3127 proctitis True False False DOID:3128 anus disease True False False DOID:3132 porphyria cutanea tarda True False False @@ -10812,6 +10801,7 @@ DOID:3697 acute transudative otitis media True False False DOID:3698 bile duct mucinous adenocarcinoma True False False DOID:3699 uterine ligament mucinous adenocarcinoma True False False DOID:37 skin disease True False False +DOID:370 malignant olfactory nerve neoplasm True False False DOID:3700 uterine ligament adenocarcinoma True False False DOID:3701 cervical mucinous adenocarcinoma True False False DOID:3702 cervical adenocarcinoma True False False @@ -11420,6 +11410,7 @@ DOID:4852 pleomorphic xanthoastrocytoma True False False DOID:4853 pilocytic astrocytoma of cerebellum True False False DOID:4855 diencephalic astrocytoma True False False DOID:4856 gliofibroma True False False +DOID:4857 diffuse astrocytoma True False False DOID:4858 pineal gland astrocytoma True False False DOID:486 glomeruloid hemangioma True False False DOID:4860 brain stem astrocytic neoplasm True False False @@ -11589,6 +11580,7 @@ DOID:5152 cellular neurofibroma True False False DOID:5153 atypical neurofibroma True False False DOID:5154 borna disease True False False DOID:5155 multiple mucosal neuroma True False False +DOID:5157 benign pleural mesothelioma True False False DOID:5158 pleural cancer True False False DOID:5160 arteriosclerosis obliterans True False False DOID:5161 Monckeberg arteriosclerosis True False False @@ -12041,6 +12033,7 @@ DOID:5875 retroperitoneal cancer True False False DOID:5876 apocrine sweat gland neoplasm True False False DOID:5877 endocardium cancer True False False DOID:5884 benign intermediate mesothelioma True False False +DOID:5889 anaplastic ependymoma True False False DOID:589 congenital hemolytic anemia True False False DOID:5890 malignant adult ependymoma True False False DOID:5893 childhood malignant mesenchymoma True False False @@ -12084,7 +12077,10 @@ DOID:5999 apocrine adenosis of breast True False False DOID:600 animal phobia True False False DOID:6000 congestive heart failure True False False DOID:60000 appendix disease True False False +DOID:60002 Bartholin's gland disease True False False DOID:60003 Bartholin's gland cancer True False False +DOID:60006 benign vascular tumor True False False +DOID:60007 cerebrovascular benign neoplasm True False False DOID:60008 parathyroid gland benign neoplasm True False False DOID:60009 pituitary gland benign neoplasm True False False DOID:6001 breast fibrosarcoma True False False @@ -12396,6 +12392,7 @@ DOID:6774 polyembryoma of the ovary True False False DOID:6776 breast myoepithelial carcinoma True False False DOID:6777 villoglandular endometrial endometrioid adenocarcinoma True False False DOID:678 progressive supranuclear palsy True False False +DOID:6785 desmoplastic small round cell tumor True False False DOID:6786 childhood botryoid rhabdomyosarcoma True False False DOID:6787 childhood vagina botryoid rhabdomyosarcoma True False False DOID:6788 vagina botryoid rhabdomyosarcoma True False False @@ -12541,6 +12538,7 @@ DOID:7146 Langerhans cell sarcoma True False False DOID:7147 ankylosing spondylitis True False False DOID:7148 rheumatoid arthritis True False False DOID:7152 prostate stromal sarcoma True False False +DOID:7154 anaplastic oligodendroglioma True False False DOID:7160 rectum leiomyoma True False False DOID:7165 subacute thyroiditis True False False DOID:7166 thyroiditis True False False @@ -13148,6 +13146,7 @@ DOID:8717 decubitus ulcer True False False DOID:8719 in situ carcinoma True False False DOID:8725 vascular dementia True False False DOID:8729 milker's nodule True False False +DOID:873 anaerobic pneumonia True False False DOID:8731 carotid body cancer True False False DOID:8736 smallpox True False False DOID:8738 leukoplakia of penis True False False @@ -13640,6 +13639,7 @@ DOID:0060529 white shrimp allergy True True False DOID:0060530 snail allergy True True False DOID:0060531 horned turban snail allergy True True False DOID:0060532 latex allergy True True False +DOID:0080831 subjective cognitive decline True True False DOID:0110098 atopic dermatitis 2 True True False DOID:0110099 atopic dermatitis 3 True True False DOID:0110100 atopic dermatitis 4 True True False diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 8a32f21f..bf456056 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -2,87 +2,22 @@ subject_id subject_label DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0081133 3-methylglutaconic aciduria type 7a DOID:0081134 3-methylglutaconic aciduria type 7b -DOID:0111761 46,XX sex reversal 1 -DOID:0080943 46,XX sex reversal 5 -DOID:0080926 7q11.23 duplication syndrome DOID:0081069 A53 diffuse large B-cell lymphoma -DOID:0111622 ACTH-independent macronodular adrenal hyperplasia -DOID:0080952 AMED syndrome -DOID:0111860 AMME complex -DOID:0111824 Aarskog syndrome -DOID:0111826 Abruzzo-Erickson syndrome DOID:0081289 Antley-Bixler syndrome DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis DOID:0111964 B cell and dendritic cell deficiency -DOID:0080638 B-cell acute lymphoblastic leukemia -DOID:0081041 B-cell prolymphocytic leukemia -DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged -DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 -DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 -DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH -DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy -DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy -DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 -DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like DOID:0080725 BASAN syndrome DOID:0112225 BH4-deficient hyperphenylalaninemia B DOID:0081130 BH4-deficient hyperphenylalaninemia C DOID:0081131 BH4-deficient hyperphenylalaninemia D DOID:0081064 BN2 diffuse large B-cell lymphoma -DOID:0080893 Bainbridge-Ropers syndrome -DOID:0081112 Baraitser-Winter syndrome 1 -DOID:0081113 Baraitser-Winter syndrome 2 -DOID:0081009 Bardet-Biedl syndrome 20 -DOID:0081010 Bardet-Biedl syndrome 21 -DOID:0081011 Bardet-Biedl syndrome 22 -DOID:60002 Bartholin's gland disease -DOID:0111838 Basilicata-Akhtar syndrome -DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome -DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 -DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 -DOID:0080695 Burn-McKeown syndrome -DOID:0111822 CHILD syndrome -DOID:0112152 CHIME syndrome +DOID:0060018 CD3gamma deficiency DOID:0081250 CIC-rearranged sarcoma -DOID:0111898 CK syndrome DOID:0080906 CNS neuroblastoma with FOXR2 activation -DOID:0070343 CSF1R-related brain malformation and osteopetrosis DOID:0081122 Catel Manzke syndrome DOID:0080907 Cockayne syndrome A DOID:0080908 Cockayne syndrome B -DOID:0112371 Coffin-Siris syndrome 10 -DOID:0112372 Coffin-Siris syndrome 11 -DOID:0112370 Coffin-Siris syndrome 12 -DOID:0112368 Coffin-Siris syndrome 5 -DOID:0112369 Coffin-Siris syndrome 7 -DOID:0112367 Coffin-Siris syndrome 8 -DOID:0081000 Cowden syndrome 4 -DOID:0081001 Cowden syndrome 5 -DOID:0081002 Cowden syndrome 6 -DOID:0081003 Cowden syndrome 7 -DOID:0081063 DICER1 syndrome -DOID:0112158 De Sanctis-Cacchione syndrome -DOID:0081126 DeSanto-Shinawi syndrome -DOID:0111895 Diamond-Blackfan anemia 1 -DOID:0111888 Diamond-Blackfan anemia 10 -DOID:0111892 Diamond-Blackfan anemia 11 -DOID:0111882 Diamond-Blackfan anemia 12 -DOID:0111889 Diamond-Blackfan anemia 13 -DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis -DOID:0111893 Diamond-Blackfan anemia 16 -DOID:0111880 Diamond-Blackfan anemia 17 -DOID:0111896 Diamond-Blackfan anemia 18 -DOID:0111886 Diamond-Blackfan anemia 19 -DOID:0111885 Diamond-Blackfan anemia 2 -DOID:0111891 Diamond-Blackfan anemia 20 -DOID:0111890 Diamond-Blackfan anemia 4 -DOID:0111883 Diamond-Blackfan anemia 5 -DOID:0111879 Diamond-Blackfan anemia 6 -DOID:0111878 Diamond-Blackfan anemia 7 -DOID:0111881 Diamond-Blackfan anemia 8 -DOID:0111884 Diamond-Blackfan anemia 9 -DOID:0111887 Diamond-blackfan anemia 3 DOID:0081249 EWSR1-negative small round cell tumor DOID:0081065 EZB diffuse large B-cell lymphoma DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma @@ -102,173 +37,76 @@ DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 -DOID:0080757 Fanconi renotubular syndrome 1 -DOID:0080758 Fanconi renotubular syndrome 2 -DOID:0080759 Fanconi renotubular syndrome 3 -DOID:0080760 Fanconi renotubular syndrome 4 -DOID:0080761 Fanconi renotubular syndrome 5 -DOID:0112194 Filippi syndrome DOID:0111180 French Canadian Leigh disease -DOID:0111218 Friedreich ataxia 1 -DOID:0112249 GAPO syndrome -DOID:0080718 GNE myopathy DOID:0112250 Gaucher's disease type IIIC -DOID:0112251 Ghosal hematodiaphyseal syndrome -DOID:0081120 Graves ophthalmopathy -DOID:0081168 HMG-CoA synthase 2 deficiency DOID:0112127 HRPT-related hyperuricemia DOID:11166 Human papillomavirus infectious disease DOID:0080875 IDH-mutant anaplastic astrocytoma DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma DOID:0080876 IDH-wildtype anaplastic astrocytoma DOID:0080878 IDH-wildtype glioblastoma -DOID:0080851 IgA pemphigus -DOID:0112383 KINSSHIP syndrome DOID:0112319 Kanzaki disease -DOID:0111842 Keipert syndrome -DOID:0080724 Kenny-Caffey syndrome DOID:0080722 Kenny-Caffey syndrome type 1 DOID:0080723 Kenny-Caffey syndrome type 2 DOID:0080990 King Denborough syndrome -DOID:0080597 Kleefstra syndrome -DOID:0081169 Leber congenital amaurosis 19 -DOID:0112240 Leber congenital amaurosis with early-onset deafness -DOID:0112259 Leydig cell hypoplasia -DOID:0112260 Leydig cell hypoplasia type I -DOID:0112261 Leydig cell hypoplasia type II -DOID:0080740 Libman-Sacks endocarditis DOID:0081066 MCD diffuse large B-cell lymphoma -DOID:0111865 MEND syndrome -DOID:0111875 MLS syndrome -DOID:0112306 Mahvash Disease -DOID:0081075 Marsili syndrome -DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome -DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 DOID:0112107 McLeod syndrome DOID:0080670 Meesmann corneal dystrophy 1 DOID:0080671 Meesmann corneal dystrophy 2 -DOID:0111861 Meester-Loeys syndrome -DOID:0111845 Mullegama-Klein-Martinez syndrome DOID:0112258 N-acetylglutamate synthase deficiency DOID:0081067 N1 diffuse large B-cell lymphoma -DOID:0080709 NK cell deficiency DOID:0050192 Nipah virus encephalitis -DOID:0112169 Noonan syndrome 11 -DOID:0112170 Noonan syndrome 12 -DOID:0112161 Noonan syndrome 13 -DOID:0080691 Noonan syndrome-like disorder with loose anagen hair -DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 -DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 DOID:0080697 Opitz GBBB syndrome -DOID:0111843 Paganini-Miozzo syndrome DOID:0080855 Parkinsonism -DOID:0080690 RASopathy -DOID:0080892 RELA fusion-positive ependymoma DOID:0081007 RNASET2-deficient cystic leukoencephalopathy -DOID:0081097 Rafiq syndrome DOID:0112060 Raynaud-Claes syndrome -DOID:0112120 SHOX-related short stature DOID:0081068 ST2 diffuse large B-cell lymphoma -DOID:0111874 Sabinas brittle hair syndrome DOID:0081272 Sandestig-Stefanova syndrome -DOID:0111715 Schaaf-Yang syndrome -DOID:0112317 Schindler disease DOID:0112318 Schindler disease type 1 -DOID:0112320 Schindler disease type 3 -DOID:0112181 Schinzel type phocomelia -DOID:0111841 Shukla-Vernon syndrome DOID:0081273 Siddiqi syndrome DOID:0081270 Smith-McCort dysplasia 1 DOID:0081271 Smith-McCort dysplasia 2 -DOID:0112103 Sotos syndrome 1 DOID:0112102 Sotos syndrome 2 -DOID:0112104 Sotos syndrome 3 DOID:0080676 Stickler syndrome 1 DOID:0080675 Stickler syndrome 2 DOID:0112126 Stocco Dos Santos type X-linked intellectual disability -DOID:0080746 Sweet syndrome -DOID:0080710 T cell and NK cell immunodeficiency DOID:0111965 T cell, B cell, and NK cell deficiency DOID:0081312 T-cell non-Hodgkin lymphoma -DOID:0081042 T-cell prolymphocytic leukemia DOID:0080817 T2-high asthma DOID:0080818 T2-low asthma -DOID:0080835 TORCH syndrome -DOID:0112339 Tatton-Brown-Rahman syndrome -DOID:0081073 Teebi hypertelorism syndrome -DOID:0080698 Teebi hypertelorism syndrome 1 -DOID:0081074 Teebi hypertelorism syndrome 2 DOID:0112042 Tonne-Kalscheuer syndrome -DOID:0080789 Treacher Collins syndrome 1 -DOID:0080790 Treacher Collins syndrome 2 -DOID:0080791 Treacher Collins syndrome 3 -DOID:0080792 Treacher Collins syndrome 4 -DOID:0081021 Tukel syndrome -DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome -DOID:0080828 VEXAS syndrome DOID:0111840 Van Esch-O'Driscoll syndrome -DOID:0080696 Winchester syndrome -DOID:0112264 Woodhouse-Sakati syndrome -DOID:0112063 X-Linked immunodeficiency 74 -DOID:0112157 X-linked atrophic macular degeneration DOID:0081059 X-linked central diabetes insipidus -DOID:0111828 X-linked cerebellar ataxia -DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction DOID:0111863 X-linked congenital bilateral absence of vas deferens -DOID:0111846 X-linked congenital hemolytic anemia DOID:0111737 X-linked deafness 2 DOID:0111741 X-linked deafness 5 -DOID:0112156 X-linked dyserythropoietic anemia -DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders -DOID:0111388 X-linked hypoparathyroidism DOID:0111844 X-linked intellectual developmental disorder 108 DOID:0080984 X-linked intellectual developmental disorder 109 -DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome DOID:0080754 X-linked keratosis follicularis spinulosa decalvans -DOID:0112239 X-linked lissencephaly 1 DOID:0112238 X-linked lissencephaly 2 DOID:0081123 X-linked mental retardation Gustavson type DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0081060 X-linked nephrogenic diabetes insipidus DOID:0111798 X-linked nephrolithiasis type I -DOID:0112105 X-linked parkinsonism-spasticity syndrome -DOID:0111834 X-linked reticulate pigmentary disorder -DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections -DOID:0112128 X-linked severe congenital neutropenia -DOID:0112274 X-linked spermatogenic failure 3 -DOID:0111827 X-linked spinal muscular atrophy 2 DOID:0111829 X-linked spinocerebellar ataxia 1 DOID:0111830 X-linked spinocerebellar ataxia 2 DOID:0111831 X-linked spinocerebellar ataxia 3 DOID:0111832 X-linked spinocerebellar ataxia 4 DOID:0111833 X-linked spinocerebellar ataxia 5 -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia -DOID:0111899 X-linked thrombophilia due to factor IX defect DOID:0080839 X-linked warfarin sensitivity -DOID:0111757 Y-linked deafness DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma -DOID:0080945 abdominal obesity-metabolic syndrome 4 -DOID:0070309 absence epilepsy -DOID:0080941 acquired angioedema -DOID:0080834 acquired laryngomalacia DOID:0081237 acromesomelic dysplasia-3 DOID:0081238 acromesomelic dysplasia-4 DOID:0080810 acute asthma -DOID:0080795 acute basophilic leukemia -DOID:0080780 acute erythroid leukemia -DOID:0080947 acute flaccid myelitis DOID:0080999 acute hemorrhagic pancreatitis -DOID:0080976 acute myeloid leukemia with BCR-ABL1 DOID:0081094 acute myeloid leukemia with MLL rearrangement DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) DOID:0081087 acute myeloid leukemia with maturation -DOID:0081085 acute myeloid leukemia with minimal differentiation DOID:0081095 acute myeloid leukemia with mutated CEBPA -DOID:0081089 acute myeloid leukemia with mutated NPM1 DOID:0081091 acute myeloid leukemia with mutated RUNX1 DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) @@ -288,36 +126,18 @@ DOID:0081139 agammaglobulinemia 7 DOID:0081140 agammaglobulinemia 8A DOID:0081143 agammaglobulinemia 8B DOID:0081141 agammaglobulinemia 9 -DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome -DOID:0080949 alcoholic ketoacidosis -DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome DOID:0080951 alopecia-mental retardation syndrome 3 DOID:0080950 alopecia-mental retardation syndrome 4 -DOID:0112125 alpha-thalassemia myelodysplasia syndrome DOID:0080953 amelogenesis imperfecta type 1J DOID:0080960 amelogenesis imperfecta type 2A6 DOID:0111721 amelogenesis imperfecta type 3 -DOID:0060204 amyotrophic lateral sclerosis type 13 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 -DOID:873 anaerobic pneumonia -DOID:5889 anaplastic ependymoma -DOID:7154 anaplastic oligodendroglioma DOID:0080854 anaplastic pleomorphic xanthoastrocytoma -DOID:0080942 anauxetic dysplasia -DOID:0080962 anauxetic dysplasia 2 -DOID:0080963 anauxetic dysplasia 3 -DOID:0081261 angiocentric glioma -DOID:0080606 anterior segment dysgenesis 1 DOID:0080607 anterior segment dysgenesis 2 DOID:0080610 anterior segment dysgenesis 5 -DOID:0080612 anterior segment dysgenesis 7 -DOID:0080744 antisynthetase syndrome DOID:0080685 aortic dissection -DOID:0080977 aortic valve disease 3 DOID:0080927 apolipoprotein A-IV associated amyloidosis -DOID:0080959 arrhythmogenic right ventricular dysplasia 14 -DOID:0080954 arthrogryposis multiplex congenita DOID:0080978 arthrogryposis multiplex congenita-1 DOID:0080979 arthrogryposis multiplex congenita-3 DOID:0080980 arthrogryposis multiplex congenita-4 @@ -328,24 +148,16 @@ DOID:0080904 astroblastoma, MN1-altered DOID:0081256 astrocytoma, IDH-mutant, grade 2 DOID:0081257 astrocytoma, IDH-mutant, grade 3 DOID:0080877 astrocytoma, IDH-mutant, grade 4 -DOID:0080662 atrial standstill 1 -DOID:0080663 atrial standstill 2 -DOID:0080756 atrophoderma vermiculata -DOID:0060042 atypical autism -DOID:0080619 auditory system benign neoplasm DOID:0080742 autoimmune cholangitis DOID:0080994 autoimmune epilepsy DOID:0081242 autoimmune interstitial lung, joint, and kidney disease -DOID:0080767 autoimmune myocarditis DOID:0080321 autonomic nervous system benign neoplasm DOID:0080770 autosomal dominant beta thalassemia -DOID:0111825 autosomal dominant Aarskog syndrome DOID:0112373 autosomal dominant auditory neuropathy 3 -DOID:0080720 autosomal dominant congenital deafness with onychodystrophy DOID:0080807 autosomal dominant craniodiaphyseal dysplasia DOID:0080801 autosomal dominant craniometaphyseal dysplasia +DOID:0070136 autosomal dominant cutis laxa 2 DOID:0070020 autosomal dominant dyskeratosis congenita 4 -DOID:0080682 autosomal dominant familial visceral neuropathy DOID:0111269 autosomal dominant hyaline body myopathy DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques @@ -355,14 +167,11 @@ DOID:0112167 autosomal dominant nonsyndromic deafness 76 DOID:0112168 autosomal dominant nonsyndromic deafness 77 DOID:0112159 autosomal dominant nonsyndromic deafness 78 DOID:0112160 autosomal dominant nonsyndromic deafness 79 -DOID:0112130 autosomal dominant severe congenital neutropenia DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency -DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens DOID:0111797 autosomal recessive congenital nystagmus DOID:0080802 autosomal recessive craniometaphyseal dysplasia -DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0081177 autosomal recessive intellectual developmental disorder 1 DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 DOID:0081186 autosomal recessive intellectual developmental disorder 11 @@ -429,35 +238,16 @@ DOID:0112162 autosomal recessive nonsyndromic deafness 116 DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency -DOID:0112299 axial spondylometaphyseal dysplasia -DOID:0080781 benign exocrine pancreas neoplasm DOID:0081114 benign familial infantile seizures 1 DOID:0081115 benign familial infantile seizures 2 DOID:0081116 benign familial infantile seizures 3 DOID:0081117 benign familial infantile seizures 4 DOID:0081118 benign familial infantile seizures 5 DOID:0081119 benign familial infantile seizures 6 -DOID:0081026 benign peritoneal solitary fibrous tumor -DOID:5157 benign pleural mesothelioma DOID:0080602 benign teratoma -DOID:60006 benign vascular tumor -DOID:0080772 beta-thalassemia intermedia -DOID:0080771 beta-thalassemia major -DOID:0080921 bilateral frontal polymicrogyria -DOID:0080922 bilateral frontoparietal polymicrogyria -DOID:0080920 bilateral generalized polymicrogyria -DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria -DOID:0080924 bilateral perisylvian polymicrogyria -DOID:0080901 bladder sarcomatoid transitional cell carcinoma -DOID:0080902 bladder small cell carcinoma -DOID:0081076 blastic plasmacytoid dendritic cell neoplasm DOID:0112313 brain small vessel disease DOID:0112314 brain small vessel disease 2 -DOID:0112315 brain small vessel disease 3 DOID:0081323 breast implant illness -DOID:0070333 breast implant-associated anaplastic large cell lymphoma -DOID:0080729 brittle cornea syndrome 2 DOID:11650 bronchopulmonary dysplasia DOID:0080652 calcium oxalate nephrolithiasis DOID:0080721 calvarial doughnut lesions with bone fragility @@ -465,50 +255,24 @@ DOID:0080909 castration-resistant prostate carcinoma DOID:0081245 cauda equina neuroendocrine tumor DOID:0080700 caudal regression syndrome DOID:0081030 central conducting lymphatic anomaly -DOID:0081055 central diabetes insipidus -DOID:0080905 central nervous system neuroblastoma DOID:0081315 central nervous system tumor with BCOR internal tandem duplication -DOID:0112308 central precocious puberty DOID:0112310 central precocious puberty 1 DOID:0112309 central precocious puberty 2 DOID:0111223 centronuclear myopathy 1 DOID:0111224 centronuclear myopathy 4 DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation -DOID:0080898 cerebellofaciodental syndrome DOID:0080910 cerebrooculofacioskeletal syndrome -DOID:0080911 cerebrooculofacioskeletal syndrome 1 -DOID:0080912 cerebrooculofacioskeletal syndrome 2 -DOID:0080913 cerebrooculofacioskeletal syndrome 3 -DOID:0080914 cerebrooculofacioskeletal syndrome 4 -DOID:60007 cerebrovascular benign neoplasm DOID:0080794 childhood acute megakaryoblastic leukemia DOID:0080830 childhood low-grade glioma -DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered -DOID:0080815 childhood-onset asthma DOID:0112224 chondrodysplasia with joint dislocations gPAPP type -DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia -DOID:0112037 chromosome Xp11.22 duplication syndrome DOID:0080809 chronic asthma DOID:0080748 chronic inducible urticaria -DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive DOID:0080749 chronic spontaneous urticaria DOID:0081291 chronic traumatic encephalopathy DOID:0080747 chronic urticaria DOID:0112253 combined cellular and humoral immune defects with granulomas DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 -DOID:0111962 combined immunodeficiency -DOID:0112117 combined oxidative phosphorylation deficiency 40 -DOID:0112119 combined oxidative phosphorylation deficiency 41 -DOID:0112118 combined oxidative phosphorylation deficiency 42 -DOID:0112116 combined oxidative phosphorylation deficiency 43 -DOID:0112113 combined oxidative phosphorylation deficiency 45 -DOID:0112115 combined oxidative phosphorylation deficiency 46 -DOID:0112114 combined oxidative phosphorylation deficiency 47 -DOID:0112112 combined oxidative phosphorylation deficiency 48 -DOID:0112110 combined oxidative phosphorylation deficiency 49 -DOID:0112111 combined oxidative phosphorylation deficiency 50 -DOID:0112137 combined oxidative phosphorylation deficiency 51 DOID:0081144 common variable immunodeficiency 1 DOID:0081152 common variable immunodeficiency 10 DOID:0081153 common variable immunodeficiency 11 @@ -522,9 +286,6 @@ DOID:0081148 common variable immunodeficiency 5 DOID:0081149 common variable immunodeficiency 6 DOID:0081150 common variable immunodeficiency 7 DOID:0081151 common variable immunodeficiency 8 -DOID:0080775 complete androgen insensitivity syndrome -DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay -DOID:0111862 congenital bilateral absence of vas deferens DOID:0111839 congenital disorder of glycosylation Icc DOID:0080574 congenital disorder of glycosylation Iy DOID:0081015 congenital fibrosis of the extraocular muscles 1 @@ -532,11 +293,8 @@ DOID:0081016 congenital fibrosis of the extraocular muscles 2 DOID:0081017 congenital fibrosis of the extraocular muscles 3A DOID:0081019 congenital fibrosis of the extraocular muscles 3C DOID:0081020 congenital fibrosis of the extraocular muscles 5 -DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder -DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome DOID:0112014 congenital megabladder DOID:0111836 congenital nongoitrous hypothyroidism 7 -DOID:0111837 congenital nongoitrous hypothyroidism 8 DOID:0111835 congenital nongoitrous hypothyroidism 9 DOID:0111790 congenital nystagmus 1 DOID:0111792 congenital nystagmus 2 @@ -549,25 +307,13 @@ DOID:0112243 congenital symmetric circumferential skin creases 2 DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B DOID:0080796 core binding factor acute myeloid leukemia -DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome -DOID:0080803 cranioectodermal dysplasia 1 -DOID:0080804 cranioectodermal dysplasia 2 -DOID:0080805 cranioectodermal dysplasia 3 -DOID:0080806 cranioectodermal dysplasia 4 DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 -DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome DOID:0112340 craniotubular dysplasia Ikegawa type DOID:0081012 critical COVID-19 DOID:0080925 cytochrome P450 oxidoreductase deficiency -DOID:0112123 deafness, dystonia, and cerebral hypomyelination -DOID:0081247 dedifferentiated chondrosarcoma DOID:0111576 dehydrated hereditary stomatocytosis 1 DOID:0080773 delta beta-thalassemia -DOID:0111963 dendritic cell deficiency -DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma -DOID:6785 desmoplastic small round cell tumor -DOID:0112202 developmental and epileptic encephalopathy DOID:0112203 developmental and epileptic encephalopathy 67 DOID:0112204 developmental and epileptic encephalopathy 68 DOID:0112205 developmental and epileptic encephalopathy 69 @@ -589,13 +335,9 @@ DOID:0112219 developmental and epileptic encephalopathy 84 DOID:0112220 developmental and epileptic encephalopathy 86 DOID:0112221 developmental and epileptic encephalopathy 87 DOID:0112222 developmental and epileptic encephalopathy 88 -DOID:0112223 developmental and epileptic encephalopathy 89 DOID:0112275 developmental and epileptic encephalopathy 93 DOID:0081325 developmental and epileptic encephalopathy 94 DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome -DOID:0080928 dialysis-related amyloidosis -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma -DOID:4857 diffuse astrocytoma DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered DOID:0080880 diffuse glioma, H3 G34 mutant DOID:0080996 diffuse large B-cell lymphoma activated B-cell type @@ -605,23 +347,12 @@ DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered DOID:0080684 diffuse midline glioma, H3 K27M-mutant DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype DOID:0080578 digenic disease -DOID:0081157 dilated cardiomyopathy 1LL -DOID:0081158 dilated cardiomyopathy 1MM -DOID:0081159 dilated cardiomyopathy 2C -DOID:0081160 dilated cardiomyopathy 2D -DOID:0081161 dilated cardiomyopathy 2E -DOID:0081162 dilated cardiomyopathy 2F -DOID:0081163 dilated cardiomyopathy 2G -DOID:0081164 dilated cardiomyopathy 3B -DOID:0081058 dipsogenic diabetes insipidus DOID:0111596 distal arthrogryposis type 1 DOID:0112190 distal arthrogryposis type 1C DOID:0111605 distal arthrogryposis type 2A DOID:0111607 distal arthrogryposis type 3 DOID:0111610 distal arthrogryposis type 4 -DOID:0111608 distal arthrogryposis type 5 DOID:0111609 distal arthrogryposis type 6 -DOID:0111603 distal arthrogryposis type 7 DOID:0111203 distal hereditary motor neuronopathy type 5 DOID:0111189 distal muscular dystrophy 3 DOID:0111190 distal muscular dystrophy 4 @@ -630,183 +361,94 @@ DOID:0060034 dropped head syndrome DOID:0070310 drug-induced hearing loss DOID:0080769 early-onset vitamin B6-dependent epilepsy DOID:0111664 ectodermal dysplasia 1 -DOID:0081077 ectodermal dysplasia and immune deficiency -DOID:0081078 ectodermal dysplasia and immunodeficiency 1 -DOID:0081079 ectodermal dysplasia and immunodeficiency 2 DOID:0081286 embryonal tumor with multilayered rosettes DOID:0080819 environmental induced asthma DOID:0080511 epidermolysis bullosa simplex generalized type -DOID:0080373 epididymis disease DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma DOID:0080750 erythema nodosum -DOID:0080766 erythrokeratodermia variabilis et progressiva 6 DOID:0080916 erythroleukemia DOID:0081295 essential tremor 6 DOID:0080821 exercise-induced bronchoconstriction DOID:0081314 extraventricular neurocytoma DOID:0080811 extrinsic asthma -DOID:0080944 familial Behcet-like autoinflammatory syndrome -DOID:0080410 familial adenomatous polyposis 2 -DOID:0080411 familial adenomatous polyposis 3 DOID:0111421 familial apolipoprotein A5 deficiency DOID:0111729 familial episodic pain syndrome 1 DOID:0111731 familial episodic pain syndrome 3 -DOID:0081102 familial gestational hyperthyroidism -DOID:0112183 familial thyroid dyshormonogenesis DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 DOID:0081043 fetal akinesia deformation sequence syndrome X-linked -DOID:0080672 fibrochondrogenesis 1 -DOID:0080673 fibrochondrogenesis 2 DOID:0111708 focal nonepidermolytic palmoplantar keratoderma DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 -DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma DOID:0112245 focal segmental glomerulosclerosis 3 -DOID:0081044 frontonasal dysplasia DOID:0081045 frontonasal dysplasia 1 DOID:0081046 frontonasal dysplasia 2 DOID:0081047 frontonasal dysplasia 3 -DOID:0080375 gastroesophageal adenocarcinoma -DOID:0080374 gastroesophageal cancer DOID:0080712 gene duplication disease DOID:0081031 generalized lymphatic anomaly DOID:0080601 germ cell benign neoplasm -DOID:0081057 gestational diabetes insipidus -DOID:0112246 glutaric acidemia type 3 -DOID:0080699 glutathione synthetase deficiency DOID:0112252 glutathione synthetase deficiency of erythrocytes DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria -DOID:0081028 glycogen-rich carcinoma -DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081308 grade I lymphomatoid granulomatosis DOID:0081309 grade II lymphomatoid granulomatosis DOID:0081310 grade III lymphomatoid granulomatosis DOID:0081267 graft-versus-host disease -DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 -DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 DOID:0112007 growth hormone secreting pituitary adenoma 2 -DOID:0111901 heparin cofactor II deficiency -DOID:0112254 hepatic venoocclusive disease with immunodeficiency -DOID:0080355 hepatobiliary system cancer -DOID:0081049 hepatosplenic T-cell lymphoma -DOID:0080714 hereditary alpha tryptasemia syndrome +DOID:3117 hepatobiliary benign neoplasm DOID:0080939 hereditary angioedema type I DOID:0080940 hereditary angioedema type III -DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors -DOID:0111349 hereditary desmoid disease DOID:0080764 hereditary diffuse gastric cancer DOID:0070212 hereditary lymphedema I DOID:0112348 hereditary spastic paraplegia 78 DOID:0112344 hereditary spastic paraplegia 79 DOID:0112341 hereditary spastic paraplegia 80 -DOID:0112349 hereditary spastic paraplegia 81 DOID:0112343 hereditary spastic paraplegia 82 DOID:0112346 hereditary spastic paraplegia 83 DOID:0112347 hereditary spastic paraplegia 84 DOID:0112345 hereditary spastic paraplegia 85 DOID:0112342 hereditary spastic paraplegia 86 -DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit DOID:0081304 high-grade astrocytoma with piloid features -DOID:0080915 histiocytic sarcoma DOID:0111278 histiocytosis-lymphadenopathy plus syndrome DOID:0080879 histone mutated tumor -DOID:0112255 homocystinuria-megaloblastic anemia cblE type -DOID:0112256 homocystinuria-megaloblastic anemia cblG type DOID:0081104 hot water epilepsy DOID:0081106 hot water epilepsy 1 DOID:0081107 hot water epilepsy 2 DOID:0080827 human cytomegalovirus infection -DOID:0112257 hydroxykynureninuria DOID:0080594 hyper IgE recurrent infection syndrome 2 -DOID:0111369 hyperalphalipoproteinemia 1 DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy DOID:0112153 hypomyelinating leukodystrophy 20 -DOID:0081176 hypotonia, ataxia, and delayed development syndrome -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 -DOID:0112265 iminoglycinuria DOID:0111970 immunodeficiency 10 DOID:0111957 immunodeficiency 11A -DOID:0111958 immunodeficiency 11B DOID:0111988 immunodeficiency 12 -DOID:0111987 immunodeficiency 13 -DOID:0111936 immunodeficiency 14 -DOID:0111960 immunodeficiency 15A DOID:0111959 immunodeficiency 15B DOID:0111935 immunodeficiency 16 -DOID:0111973 immunodeficiency 17 -DOID:0111971 immunodeficiency 18 -DOID:0111972 immunodeficiency 19 -DOID:0111941 immunodeficiency 20 -DOID:0111947 immunodeficiency 21 DOID:0111937 immunodeficiency 22 -DOID:0111953 immunodeficiency 23 DOID:0111938 immunodeficiency 24 -DOID:0111942 immunodeficiency 25 DOID:0111961 immunodeficiency 26 -DOID:0111955 immunodeficiency 27A -DOID:0111956 immunodeficiency 27B -DOID:0111995 immunodeficiency 28 -DOID:0111950 immunodeficiency 29 DOID:0111990 immunodeficiency 30 -DOID:0111945 immunodeficiency 31A -DOID:0111944 immunodeficiency 31B -DOID:0111946 immunodeficiency 31C DOID:0111986 immunodeficiency 32A -DOID:0111985 immunodeficiency 32B -DOID:0112003 immunodeficiency 33 DOID:0112000 immunodeficiency 34 -DOID:0111989 immunodeficiency 35 -DOID:0111949 immunodeficiency 36 -DOID:0111939 immunodeficiency 37 -DOID:0111934 immunodeficiency 38 -DOID:0111969 immunodeficiency 39 DOID:0111951 immunodeficiency 40 DOID:0111968 immunodeficiency 41 DOID:0111940 immunodeficiency 42 DOID:0111981 immunodeficiency 43 -DOID:0111975 immunodeficiency 44 -DOID:0111994 immunodeficiency 45 DOID:0111948 immunodeficiency 46 -DOID:0112002 immunodeficiency 47 DOID:0111943 immunodeficiency 48 -DOID:0111979 immunodeficiency 49 DOID:0112001 immunodeficiency 50 -DOID:0111996 immunodeficiency 51 -DOID:0111983 immunodeficiency 52 -DOID:0111992 immunodeficiency 53 DOID:0111967 immunodeficiency 54 DOID:0111993 immunodeficiency 55 DOID:0111982 immunodeficiency 56 -DOID:0111952 immunodeficiency 57 DOID:0111984 immunodeficiency 58 DOID:0111974 immunodeficiency 59 -DOID:0111954 immunodeficiency 60 -DOID:0111999 immunodeficiency 61 -DOID:0111991 immunodeficiency 62 DOID:0111997 immunodeficiency 63 -DOID:0111980 immunodeficiency 64 -DOID:0111978 immunodeficiency 65 -DOID:0111998 immunodeficiency 66 -DOID:0112006 immunodeficiency 69 -DOID:0112005 immunodeficiency 70 DOID:0112004 immunodeficiency 71 DOID:0112015 immunodeficiency 72 -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis -DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia -DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia -DOID:0112277 immunodeficiency 79 DOID:0111976 immunodeficiency 9 DOID:0080934 immunoglobulin heavy chain amyloidosis DOID:0080935 immunoglobulin heavy-and-light chain DOID:0080933 immunoglobulin light chain amyloidosis -DOID:0081121 inclusion body myopathy and brain white matter abnormalities DOID:0081278 infant-type hemispheric glioma DOID:0080716 infantile liver failure syndrome -DOID:0080717 infantile liver failure syndrome 1 -DOID:0112155 inflammatory bowel disease 29 -DOID:0112154 inflammatory bowel disease 30 DOID:0081239 injection anthrax DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -DOID:0081008 intellectual developmental disorder with cardiac arrhythmia DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0080812 intermittent asthma @@ -824,47 +466,18 @@ DOID:0080971 intracranial berry aneurysm 8 DOID:0080972 intracranial berry aneurysm 9 DOID:0080842 intracranial meningioma DOID:0081311 intravascular large B-cell lymphoma -DOID:0080753 keratosis follicularis spinulosa decalvans DOID:0081105 keratosis palmoplantaris striata DOID:0081108 keratosis palmoplantaris striata 1 -DOID:0081109 keratosis palmoplantaris striata 2 -DOID:0081110 keratosis palmoplantaris striata 3 -DOID:0080751 keratosis pilaris atrophicans DOID:0080752 keratosis pilaris atrophicans faciei DOID:0080616 kidney cortex disease -DOID:0080833 laryngomalacia DOID:0080846 latent autoimmune diabetes in adults -DOID:0112262 leucine-sensitive hypoglycemia of infancy DOID:0080492 leukocyte adhesion deficiency 2 -DOID:0080741 limbic encephalitis -DOID:0111808 linear skin defects with multiple congenital anomalies 1 -DOID:0111877 linear skin defects with multiple congenital anomalies 2 -DOID:0111876 linear skin defects with multiple congenital anomalies 3 DOID:0080894 lipofibromatosis-like neural tumor -DOID:0112237 lissencephaly 1 -DOID:0112229 lissencephaly 10 -DOID:0112232 lissencephaly 3 -DOID:0112235 lissencephaly 4 DOID:0112230 lissencephaly 5 DOID:0112236 lissencephaly 6 -DOID:0112231 lissencephaly 7 with cerebellar hypoplasia -DOID:0112233 lissencephaly 8 -DOID:0112228 lissencephaly 9 with complex brainstem malformation -DOID:0080848 long COVID -DOID:0080829 low grade glioma DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis -DOID:0080674 luminal breast carcinoma B -DOID:0080899 lung pleomorphic carcinoma -DOID:0080777 lung sarcomatoid carcinoma -DOID:0080618 lymph node carcinoma DOID:0081307 lymphomatoid granulomatosis -DOID:0112311 male infertility due to acephalic spermatozoa -DOID:0112312 male infertility due to globozoospermia -DOID:0080364 malignant adenoma DOID:60004 malignant cystadenoma -DOID:370 malignant olfactory nerve neoplasm -DOID:0080808 mammary analogue secretory carcinoma -DOID:0081127 mandibuloacral dysplasia DOID:0081128 mandibuloacral dysplasia type A lipodystrophy DOID:0081129 mandibuloacral dysplasia type B lipodystrophy DOID:0080703 medulloblastoma SHH activated @@ -874,13 +487,6 @@ DOID:0080702 medulloblastoma WNT activated DOID:0080706 medulloblastoma non-WNT/non-SHH DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 -DOID:0070327 melanoma in congenital melanocytic nevus -DOID:0112316 methemoglobinemia and ambiguous genitalia -DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type -DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations -DOID:0112234 microlissencephaly -DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis -DOID:0112182 mismatch repair cancer syndrome DOID:0070331 mitochondrial DNA depletion syndrome 8b DOID:0112100 mitochondrial type mitochondrial complex I deficiency DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 @@ -889,21 +495,15 @@ DOID:0081037 mixed phenotype acute leukemia with MLL rearranged DOID:0081038 mixed phenotype acute leukemia, B/myeloid DOID:0081039 mixed phenotype acute leukemia, T/myeloid DOID:0111966 monocyte, dendritic cell, and NK cell deficiency -DOID:0080688 mosaic variegated aneuploidy syndrome -DOID:0080689 mosaic variegated aneuploidy syndrome 3 DOID:0080782 mucinous pancreas adenocarcinoma DOID:0080678 mucolipidosis III gamma DOID:0080991 multiminicore disease DOID:0081303 multinodular and vacuolating neuronal tumor -DOID:0112241 multiple benign circumferential skin creases on limbs -DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome -DOID:3125 multiple endocrine neoplasia DOID:0081317 multiple synostoses syndrome 1 DOID:0081318 multiple synostoses syndrome 2 DOID:0081319 multiple synostoses syndrome 3 DOID:0081320 multiple synostoses syndrome 4 DOID:070355 multisystem proteinopathy -DOID:0112374 muscular dystrophy-dystroglycanopathy DOID:0112375 muscular dystrophy-dystroglycanopathy type B DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 @@ -914,28 +514,15 @@ DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0080798 myeloid leukemia associated with Down Syndrome -DOID:0112108 myofibrillar myopathy 10 DOID:0081285 myxoid glioneuronal tumor -DOID:0080797 nasal type extranodal NK/T-cell lymphoma DOID:0080823 near-fatal asthma DOID:0070341 neonatal-onset type II citrullinemia DOID:0081061 nephrogenic diabetes insipidus type 2 -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis -DOID:0080615 nephroma -DOID:0080390 nephrotic syndrome type 1 -DOID:0112267 nephrotic syndrome type 21 -DOID:0112268 nephrotic syndrome type 22 -DOID:0112266 nephrotic syndrome type 23 -DOID:0080380 nephrotic syndrome type 5 -DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia -DOID:0112276 neurodevelopmental disorder with involuntary movements DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures -DOID:0080679 neuronal intestinal dysplasia type A -DOID:0080680 neuronal intestinal dysplasia type B DOID:0081294 neuronal intranuclear inclusion disease DOID:0080826 nocturnal asthma DOID:0080546 non-alcoholic fatty liver @@ -980,14 +567,11 @@ DOID:0112046 non-syndromic X-linked intellectual disability 97 DOID:0112044 non-syndromic X-linked intellectual disability 98 DOID:0112026 non-syndromic X-linked intellectual disability 99 DOID:0112021 non-syndromic X-linked intellectual disability ARX-related -DOID:0081101 nonautoimmune hyperthyroidism -DOID:0080938 nonobstructive coronary artery disease DOID:0111867 nonphotosensitive trichothiodystrophy DOID:0111868 nonphotosensitive trichothiodystrophy 5 DOID:0111872 nonphotosensitive trichothiodystrophy 6 DOID:0111870 nonphotosensitive trichothiodystrophy 7 DOID:0080661 nonsyndromic aplasia cutis congenita -DOID:0080683 nonsyndromic congenital nail disorder DOID:0112065 nuclear type mitochondrial complex I deficiency DOID:0112074 nuclear type mitochondrial complex I deficiency 1 DOID:0112075 nuclear type mitochondrial complex I deficiency 10 @@ -1024,9 +608,6 @@ DOID:0112066 nuclear type mitochondrial complex I deficiency 6 DOID:0112092 nuclear type mitochondrial complex I deficiency 7 DOID:0112081 nuclear type mitochondrial complex I deficiency 8 DOID:0112073 nuclear type mitochondrial complex I deficiency 9 -DOID:0111706 oblique facial clefting 1 -DOID:0080820 occupational asthma -DOID:0080849 ocular motor apraxia, Cogan type DOID:0081296 oculopharyngodistal myopathy DOID:0081297 oculopharyngodistal myopathy 1 DOID:0081298 oculopharyngodistal myopathy 2 @@ -1037,50 +618,32 @@ DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 DOID:0080844 omodysplasia 1 DOID:0080845 omodysplasia 2 -DOID:0080840 optic atrophy 12 DOID:0080900 oral rhabdomyosarcoma DOID:0080407 orofacial cleft 14 DOID:0111848 osteogenesis imperfecta type 18 DOID:0111847 osteogenesis imperfecta type 19 DOID:0111849 osteogenesis imperfecta type 20 DOID:0112201 osteogenesis imperfecta type 21 -DOID:0081111 osteosclerotic metaphyseal dysplasia -DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant DOID:0070355 overactive bladder syndrome DOID:0081326 oxoglutarate dehydrogenase deficiency DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 DOID:0081283 papillary glioneuronal tumor -DOID:0081251 papillary tumor of the pineal region -DOID:0080852 paraneoplastic pemphigus -DOID:0080776 partial androgen insensitivity syndrome DOID:0080841 pemphigoid -DOID:0080850 pemphigus foliaceus -DOID:0080896 pericytoma with t(7;12) DOID:0081274 peroxisome biogenesis disorder 14B -DOID:0081240 peroxisome biogenesis disorder 1B DOID:0081241 peroxisome biogenesis disorder 3B DOID:0080813 persistent mild asthma DOID:0080814 persistent moderate asthma DOID:0080824 persistent severe asthma DOID:0111933 phosphoglycerate kinase 1 deficiency -DOID:0111873 photosensitive trichothiodystrophy 1 -DOID:0111869 photosensitive trichothiodystrophy 2 -DOID:0111871 photosensitive trichothiodystrophy 3 -DOID:0081248 pineocytoma DOID:0081280 pituicytoma DOID:0112009 pituitary adenoma 1 DOID:0112010 pituitary adenoma 3 DOID:0112008 pituitary adenoma 5 DOID:0081244 pituitary blastoma -DOID:0080779 plasmablastic lymphoma -DOID:0111592 plasminogen deficiency type I DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant DOID:0080577 polygenic disease -DOID:0080918 polymicrogyria DOID:0081305 polymorphous low grade neuroepithelial tumour of the young -DOID:0080745 polymyositis -DOID:0112322 pontocerebellar hypoplasia type 1 DOID:0112324 pontocerebellar hypoplasia type 11 DOID:0112327 pontocerebellar hypoplasia type 12 DOID:0112332 pontocerebellar hypoplasia type 13 @@ -1091,20 +654,11 @@ DOID:0112334 pontocerebellar hypoplasia type 1C DOID:0112323 pontocerebellar hypoplasia type 1D DOID:0112330 pontocerebellar hypoplasia type 1E DOID:0112331 pontocerebellar hypoplasia type 1F -DOID:0112328 pontocerebellar hypoplasia type 2 DOID:0112329 pontocerebellar hypoplasia type 2F -DOID:0070306 post-cardiac arrest syndrome DOID:0080889 posterior fossa ependymoma DOID:0081254 posterior fossa group A ependymoma DOID:0081255 posterior fossa group B ependymoma DOID:0080669 posterior polymorphous corneal dystrophy 4 -DOID:10993 postinfectious encephalitis -DOID:0080988 pretibial dystrophic epidermolysis bullosa -DOID:0070358 primary biliary cholangitis 1 -DOID:0070359 primary biliary cholangitis 2 -DOID:0070360 primary biliary cholangitis 3 -DOID:0070361 primary biliary cholangitis 4 -DOID:0070362 primary biliary cholangitis 5 DOID:0111850 primary ciliary dyskinesia 36 DOID:0111852 primary ciliary dyskinesia 38 DOID:0111854 primary ciliary dyskinesia 39 @@ -1115,14 +669,10 @@ DOID:0111856 primary ciliary dyskinesia 43 DOID:0111851 primary ciliary dyskinesia 44 DOID:0111857 primary ciliary dyskinesia 45 DOID:0112138 primary coenzyme Q10 deficiency 9 -DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system -DOID:0080957 primary hypoalphalipoproteinemia 1 -DOID:0080958 primary hypoalphalipoproteinemia 2 DOID:0081316 primary intracranial sarcoma, DICER1-mutant DOID:0080930 primary localized cutaneous amyloidosis 1 DOID:0080931 primary localized cutaneous amyloidosis 2 -DOID:0080932 primary localized cutaneous amyloidosis 3 DOID:0080857 primary ovarian insufficiency 1 DOID:0080867 primary ovarian insufficiency 10 DOID:0080868 primary ovarian insufficiency 11 @@ -1145,36 +695,17 @@ DOID:0080865 primary ovarian insufficiency 8 DOID:0080866 primary ovarian insufficiency 9 DOID:0111452 progressive myoclonus epilepsy 1A DOID:0111444 progressive myoclonus epilepsy 4 -DOID:0080701 prothrombin thrombophilia DOID:0080719 proximal myopathy and ophthalmoplegia DOID:0080787 proximal symphalangism 1 DOID:0080788 proximal symphalangism 2 DOID:60001 pulmonary artery disease DOID:0081268 pulmonary venoocclusive disease 1 DOID:0081269 pulmonary venoocclusive disease 2 -DOID:0080768 pyridoxine-dependent epilepsy -DOID:0080895 rapidly involuting congenital hemangioma DOID:0080687 reducing body myopathy 1B -DOID:0081024 retinal cone dystrophy 1 -DOID:0081025 retinal cone dystrophy 3A -DOID:0081022 retinal cone dystrophy 3B -DOID:0081023 retinal cone dystrophy 4 -DOID:0080946 retinal dystrophy with leukodystrophy -DOID:0112140 retinitis pigmentosa 83 -DOID:0112141 retinitis pigmentosa 84 -DOID:0112142 retinitis pigmentosa 85 -DOID:0112143 retinitis pigmentosa 86 -DOID:0112144 retinitis pigmentosa 87 -DOID:0112145 retinitis pigmentosa 88 -DOID:0112146 retinitis pigmentosa 89 -DOID:0112147 retinitis pigmentosa 90 DOID:0080992 rhabdomyolysis-myalgia syndrome DOID:0081243 rhizomelic chondrodysplasia punctate type 4 DOID:0081284 rosette-forming glioneuronal tumor -DOID:0080800 salivary gland mucinous adenocarcinoma DOID:0081293 salivary gland mucoepidermoid carcinoma -DOID:0112307 sarcosinemia -DOID:0080936 serum amyloid A amyloidosis DOID:0081013 severe COVID-19 DOID:0111932 severe congenital encephalopathy due to MECP2 mutation DOID:0112131 severe congenital neutropenia 2 @@ -1184,81 +715,27 @@ DOID:0112132 severe congenital neutropenia 5 DOID:0112134 severe congenital neutropenia 6 DOID:0112129 severe congenital neutropenia 7 DOID:0112135 severe congenital neutropenia 8 -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies -DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies -DOID:0080799 sinonasal undifferentiated carcinoma DOID:0080306 solid adenocarcinoma with mucin production DOID:0080897 solitary fibrous tumor/hemangiopericytoma DOID:0081100 spastic paraplegia with deafness -DOID:0111275 speech-language disorder-1 -DOID:0111929 spermatogenic failure 24 -DOID:0111920 spermatogenic failure 25 -DOID:0111924 spermatogenic failure 26 -DOID:0111928 spermatogenic failure 27 -DOID:0111916 spermatogenic failure 28 -DOID:0111930 spermatogenic failure 29 -DOID:0111913 spermatogenic failure 30 -DOID:0111922 spermatogenic failure 31 -DOID:0111925 spermatogenic failure 32 -DOID:0111915 spermatogenic failure 33 -DOID:0111911 spermatogenic failure 34 -DOID:0111914 spermatogenic failure 35 -DOID:0111921 spermatogenic failure 36 -DOID:0111927 spermatogenic failure 37 -DOID:0111919 spermatogenic failure 38 -DOID:0111926 spermatogenic failure 39 -DOID:0111918 spermatogenic failure 40 -DOID:0111912 spermatogenic failure 41 -DOID:0111923 spermatogenic failure 42 -DOID:0111917 spermatogenic failure 43 -DOID:0112109 spermatogenic failure 44 -DOID:0112163 spermatogenic failure 45 -DOID:0112164 spermatogenic failure 46 -DOID:0112175 spermatogenic failure 47 -DOID:0112176 spermatogenic failure 48 -DOID:0112271 spermatogenic failure 49 DOID:0112272 spermatogenic failure 50 -DOID:0112273 spermatogenic failure 51 -DOID:0112270 spermatogenic failure 52 -DOID:0112279 spermatogenic failure 53 -DOID:0112335 spermatogenic failure 54 -DOID:0112337 spermatogenic failure 55 -DOID:0112336 spermatogenic failure 56 -DOID:0112338 spermatogenic failure 57 -DOID:0112352 spermatogenic failure 58 -DOID:0112357 spermatogenic failure 59 -DOID:0112355 spermatogenic failure 60 -DOID:0112350 spermatogenic failure 61 -DOID:0112351 spermatogenic failure 62 -DOID:0112356 spermatogenic failure 63 -DOID:0112353 spermatogenic failure 64 -DOID:0112354 spermatogenic failure 65 -DOID:0080888 spinal ependymoma, MYCN-amplified +DOID:0111156 spermatogenic failure 9 DOID:0080667 spinal muscular atrophy type 0 -DOID:0070348 spinal muscular atrophy with lower extremity predominant DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A DOID:0081306 spindle cell oncocytoma -DOID:0070326 spitzoid melanoma DOID:0112365 spondylocostal dysostosis 1 DOID:0112362 spondylocostal dysostosis 2 DOID:0112361 spondylocostal dysostosis 3 DOID:0112364 spondylocostal dysostosis 4 -DOID:0112363 spondylocostal dysostosis 5 DOID:0112360 spondylocostal dysostosis 6 DOID:0112282 spondyloepiphyseal dysplasia Kimberley type DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type DOID:0112288 spondyloepiphyseal dysplasia Nishimura type DOID:0112281 spondyloepiphyseal dysplasia Stanescu type -DOID:0112284 spondyloepiphyseal dysplasia tarda -DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability -DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability -DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy -DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type -DOID:0112295 spondylometaphyseal dysplasia DOID:0112296 spondylometaphyseal dysplasia Algerian type DOID:0112302 spondylometaphyseal dysplasia East African type DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type @@ -1267,64 +744,27 @@ DOID:0112297 spondylometaphyseal dysplasia corner fracture type DOID:0112301 spondylometaphyseal dysplasia type A4 DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy -DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy -DOID:0112195 spondyloperipheral dysplasia -DOID:0080917 sporatic amyotrophic lateral sclerosis DOID:0080890 supratentorial ependymoma DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive DOID:0080843 supratentorial meningioma -DOID:0111816 syndactyly type 1 -DOID:0111817 syndactyly type 3 -DOID:0111818 syndactyly type 4 -DOID:0111819 syndactyly type 5 -DOID:0111813 syndactyly type 8 -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type -DOID:0111799 syndromic microphthalmia 1 DOID:0111812 syndromic microphthalmia 10 DOID:0111804 syndromic microphthalmia 11 DOID:0111800 syndromic microphthalmia 12 DOID:0111811 syndromic microphthalmia 13 -DOID:0111802 syndromic microphthalmia 14 DOID:0111809 syndromic microphthalmia 2 -DOID:0111801 syndromic microphthalmia 3 DOID:0111806 syndromic microphthalmia 5 DOID:0111805 syndromic microphthalmia 6 -DOID:0111803 syndromic microphthalmia 8 DOID:0081246 teratoma with somatic-type malignancy -DOID:0112149 terminal osseous dysplasia DOID:0080371 testicular sex cord-stromal benign neoplasm -DOID:0112191 tetraamelia syndrome -DOID:0112192 tetraamelia syndrome 1 -DOID:0112193 tetraamelia syndrome 2 -DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia -DOID:0080774 thalassemia minor -DOID:0111903 thrombophilia due to HRG deficiency -DOID:0111902 thrombophilia due to activated protein C resistance -DOID:0111906 thrombophilia due to decreased release of PLAT -DOID:0111907 thrombophilia due to thrombin defect -DOID:0111908 thrombophilia due to thrombomodulin defect DOID:0112185 thyroid dyshormonogenesis 1 -DOID:0112186 thyroid dyshormonogenesis 2A -DOID:0112187 thyroid dyshormonogenesis 3 -DOID:0112188 thyroid dyshormonogenesis 4 -DOID:0112184 thyroid dyshormonogenesis 5 -DOID:0112189 thyroid dyshormonogenesis 6 -DOID:0080641 tongue carcinoma DOID:0080778 transient infantile liver failure -DOID:0080743 transverse myelitis DOID:0081292 traumatic brain injury -DOID:0111866 trichothiodystrophy DOID:0080995 tuberculous encephalopathy DOID:0080686 tubular aggregate myopathy 2 -DOID:0112227 tubulinopathy -DOID:0080919 unilateral focal polymicrogyria -DOID:0080784 urinary tract infection DOID:0112180 urocanase deficiency -DOID:0080929 variant ABeta2M amyloidosis DOID:0080856 vascular Parkinsonism -DOID:0080883 vitamin D-dependent rickets DOID:0080886 vitamin D-dependent rickets type 1A DOID:0080887 vitamin D-dependent rickets type 1B DOID:0080884 vitamin D-dependent rickets type 2A @@ -1333,6 +773,4 @@ DOID:0080665 warfarin resistance DOID:0080666 warfarin sensitivity DOID:0081287 white sponge nevus 1 DOID:0081288 white sponge nevus 2 -DOID:0080937 wild-type amyloidosis -DOID:0112171 wrinkly skin syndrome DOID:0111820 zygodactyly 1 diff --git a/src/ontology/reports/icd10cm_mapping_status.tsv b/src/ontology/reports/icd10cm_mapping_status.tsv index 9d37cc75..22f66766 100644 --- a/src/ontology/reports/icd10cm_mapping_status.tsv +++ b/src/ontology/reports/icd10cm_mapping_status.tsv @@ -22630,7 +22630,6 @@ ICD10CM:N18.30 Chronic kidney disease, stage 3 unspecified False False False ICD10CM:N18.31 Chronic kidney disease, stage 3a False False False ICD10CM:N18.32 Chronic kidney disease, stage 3b False False False ICD10CM:N18.4 Chronic kidney disease, stage 4 (severe) False False False -ICD10CM:N18.5 Chronic kidney disease, stage 5 False False False ICD10CM:N18.6 End stage renal disease False False False ICD10CM:N19 Unspecified kidney failure False False False ICD10CM:N20 Calculus of kidney and ureter False False False @@ -95638,6 +95637,7 @@ ICD10CM:N10 Acute pyelonephritis True False False ICD10CM:N10-N16 Renal tubulo-interstitial diseases (N10-N16) True False False ICD10CM:N15.0 Balkan nephropathy True False False ICD10CM:N17 Acute kidney failure True False False +ICD10CM:N18.5 Chronic kidney disease, stage 5 True False False ICD10CM:N18.9 Chronic kidney disease, unspecified True False False ICD10CM:N20-N23 Urolithiasis (N20-N23) True False False ICD10CM:N21 Calculus of lower urinary tract True False False diff --git a/src/ontology/reports/icd10cm_unmapped_terms.tsv b/src/ontology/reports/icd10cm_unmapped_terms.tsv index 66af9904..fec5a5c1 100644 --- a/src/ontology/reports/icd10cm_unmapped_terms.tsv +++ b/src/ontology/reports/icd10cm_unmapped_terms.tsv @@ -8434,7 +8434,6 @@ ICD10CM:N18.30 Chronic kidney disease, stage 3 unspecified ICD10CM:N18.31 Chronic kidney disease, stage 3a ICD10CM:N18.32 Chronic kidney disease, stage 3b ICD10CM:N18.4 Chronic kidney disease, stage 4 (severe) -ICD10CM:N18.5 Chronic kidney disease, stage 5 ICD10CM:H04.42 Chronic lacrimal canaliculitis ICD10CM:H04.423 Chronic lacrimal canaliculitis of bilateral lacrimal passages ICD10CM:H04.422 Chronic lacrimal canaliculitis of left lacrimal passage diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index e237c42a..e6f295c6 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -37484,6 +37484,8 @@ + + @@ -38306,6 +38308,61 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index df75f1d4..4890800b 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -1013,7 +1013,6 @@ NCIT:C126323 Gastroesophageal Junction Large Cell Neuroendocrine Carcinoma False NCIT:C126324 Gastroesophageal Junction Neuroendocrine Carcinoma False False False NCIT:C126325 Gastroesophageal Junction Small Cell Neuroendocrine Carcinoma False False False NCIT:C126331 Ovarian Adenomatoid Tumor False False False -NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia False False False NCIT:C126337 IFN-gamma Receptor 1 Deficiency False False False NCIT:C126338 Hypomorphic RAG1 Deficiency False False False NCIT:C126339 PGM3-Associated Immunodeficiency False False False @@ -1117,7 +1116,6 @@ NCIT:C128110 Nephrotic Syndrome - Infrequently Relapsing False False False NCIT:C128111 Postoperative Spindle Cell Nodule of the Vagina False False False NCIT:C128112 Vaginal Germ Cell Tumor False False False NCIT:C128113 Vaginal Dermoid Cyst False False False -NCIT:C128117 Primary Ciliary Dyskinesia 1 False False False NCIT:C128123 Mouse Testicular Teratoma False False False NCIT:C128142 Vulvar Squamous Intraepithelial Lesion, HPV-Associated False False False NCIT:C128143 Idiopathic Crescentic Glomerulonephritis False False False @@ -1129,7 +1127,6 @@ NCIT:C128165 Malignant Vulvar Phyllodes Tumor False False False NCIT:C128166 Vulvar Adenocarcinoma, Intestinal-Type False False False NCIT:C128167 Vulvar Keratoacanthoma False False False NCIT:C128171 Colon Adenoma with Severe Dysplasia False False False -NCIT:C128188 46,XY Sex Reversal 1 False False False NCIT:C128240 Vulvar Hidradenoma Papilliferum False False False NCIT:C128241 Bartholin Gland Hyperplasia False False False NCIT:C128242 Vulvar Fibroadenoma False False False @@ -1165,7 +1162,6 @@ NCIT:C128357 Early Prosthetic Valve Endocarditis False False False NCIT:C128358 Late Prosthetic Valve Endocarditis False False False NCIT:C128366 Clinical Infection False False False NCIT:C128367 Endogenous Infection False False False -NCIT:C128370 Fungal Keratitis False False False NCIT:C128372 Severe Malaria False False False NCIT:C128375 Infectious Meningoencephalitis False False False NCIT:C128377 Tuberculosis Infection False False False @@ -1176,7 +1172,6 @@ NCIT:C128406 Fungal Pericarditis False False False NCIT:C128407 Bacterial Peritonitis False False False NCIT:C128411 Acute Sinusitis False False False NCIT:C128416 Pre-Extensively Drug-Resistant Tuberculosis False False False -NCIT:C128417 Extensively Drug-Resistant Tuberculosis False False False NCIT:C128427 Southern Tick-Associated Rash Illness False False False NCIT:C128430 Early Latent Syphilis False False False NCIT:C128434 Rhinosinusitis False False False @@ -1260,9 +1255,7 @@ NCIT:C129654 Unresectable Digestive System Adenocarcinoma False False False NCIT:C129707 Advanced Malignant Solid Neoplasm False False False NCIT:C129730 Autosomal Dominant Hypoparathyroidism False False False NCIT:C129731 Autosomal Recessive Hypoparathyroidism False False False -NCIT:C129732 Autosomal Dominant Osteopetrosis False False False NCIT:C129736 Autosomal Dominant Neurohypophyseal Diabetes Insipidus False False False -NCIT:C129739 Monogenic Diabetes False False False NCIT:C129747 SUR1-Associated Diabetes Mellitus False False False NCIT:C129748 Transcription Factor-Associated Monogenic Diabetes False False False NCIT:C129760 Kir6.2-Associated Diabetes Mellitus False False False @@ -1333,9 +1326,6 @@ NCIT:C131501 Recurrent Subsequent Malignant Neoplasm False False False NCIT:C131617 Recurrent Ependymal Tumor False False False NCIT:C131621 Acquired Factor I Deficiency False False False NCIT:C131623 Acquired Factor III Deficiency False False False -NCIT:C131624 Acquired Factor V Deficiency False False False -NCIT:C131625 Acquired Factor VII Deficiency False False False -NCIT:C131627 Acquired Factor XI Deficiency False False False NCIT:C131628 Acquired Factor XII Deficiency False False False NCIT:C131635 Tissue Factor Deficiency False False False NCIT:C131640 Erythrocyte Adenylate Kinase Deficiency False False False @@ -1950,8 +1940,6 @@ NCIT:C135157 Stage I Appendix Neuroendocrine Tumor AJCC v8 False False False NCIT:C135158 Stage II Appendix Neuroendocrine Tumor AJCC v8 False False False NCIT:C135159 Stage III Appendix Neuroendocrine Tumor AJCC v8 False False False NCIT:C135160 Stage IV Appendix Neuroendocrine Tumor AJCC v8 False False False -NCIT:C135176 Nuclear Cataract False False False -NCIT:C135177 Cortical Cataract False False False NCIT:C135180 Posterior Subcapsular Cataract False False False NCIT:C135193 Nuclear Cataract Grade 1 False False False NCIT:C135194 Nuclear Cataract Grade 2 False False False @@ -2834,7 +2822,6 @@ NCIT:C148321 Mitochondrially Inherited Nonsyndromic Sensorineural Deafness False NCIT:C148331 Unresectable Sarcoma False False False NCIT:C148362 Refractory Myelodysplastic Syndrome False False False NCIT:C148363 Recurrent Myelodysplastic Syndrome False False False -NCIT:C148370 Primary Ciliary Dyskinesia 14 False False False NCIT:C148382 Refractory Hypopharyngeal Squamous Cell Carcinoma False False False NCIT:C148383 Refractory Laryngeal Squamous Cell Carcinoma False False False NCIT:C148384 Refractory Oral Cavity Squamous Cell Carcinoma False False False @@ -2967,7 +2954,6 @@ NCIT:C150604 Resectable Carcinoma False False False NCIT:C150605 Resectable Sarcoma False False False NCIT:C150606 Resectable Liposarcoma False False False NCIT:C150607 Resectable Dedifferentiated Liposarcoma False False False -NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 False False False NCIT:C150610 Unresectable Undifferentiated Pleomorphic Sarcoma False False False NCIT:C150611 Resectable Undifferentiated Pleomorphic Sarcoma False False False NCIT:C150620 Resectable Neuroblastoma False False False @@ -3021,7 +3007,6 @@ NCIT:C152036 Distal Esophagus Adenocarcinoma False False False NCIT:C152046 Refractory Primary Peritoneal Carcinoma False False False NCIT:C152047 Refractory Fallopian Tube Carcinoma False False False NCIT:C152048 Refractory Female Reproductive System Carcinoma False False False -NCIT:C152065 Telomere Syndrome False False False NCIT:C152074 Metastatic Unresectable Sarcoma False False False NCIT:C152076 Metastatic Sarcoma False False False NCIT:C152077 Recurrent Malignant Head and Neck Neoplasm False False False @@ -3207,16 +3192,11 @@ NCIT:C155698 Locally Advanced Unresectable Carcinoma False False False NCIT:C155699 Locally Advanced Unresectable Renal Cell Carcinoma False False False NCIT:C155742 Recurrent Pancreatic Adenocarcinoma False False False NCIT:C155743 Locally Advanced Unresectable Pancreatic Adenocarcinoma False False False -NCIT:C155747 Peroxisome Biogenesis Disorder False False False NCIT:C155748 Peroxisome Biogenesis Disorder 1A False False False -NCIT:C155749 Peroxisome Biogenesis Disorder 1B False False False NCIT:C155750 Peroxisome Biogenesis Disorder 2A False False False -NCIT:C155751 Peroxisome Biogenesis Disorder 2B False False False NCIT:C155753 Peroxisome Biogenesis Disorder 3B False False False NCIT:C155760 Peroxisome Biogenesis Disorder 7A False False False -NCIT:C155761 Peroxisome Biogenesis Disorder 7B False False False NCIT:C155762 Peroxisome Biogenesis Disorder 8A False False False -NCIT:C155763 Peroxisome Biogenesis Disorder 8B False False False NCIT:C155767 Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor False False False NCIT:C155768 Sellar Neurocytoma False False False NCIT:C155769 Sellar Paraganglioma False False False @@ -3292,8 +3272,6 @@ NCIT:C155986 Refractory Neurofibromatosis Type 1 False False False NCIT:C155987 Refractory Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency False False False NCIT:C155998 Developmental and Epileptic Encephalopathy 32 False False False -NCIT:C155999 Primary Ciliary Dyskinesia 15 False False False -NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex False False False NCIT:C156032 Genodermatosis False False False NCIT:C156034 Encapsulated Variant Thyroid Gland Papillary Carcinoma False False False NCIT:C156035 Frontal Lobe Anaplastic Astrocytoma False False False @@ -3382,7 +3360,6 @@ NCIT:C156300 Locally Advanced Unresectable Cervical Carcinoma False False False NCIT:C156304 Advanced Cervical Adenocarcinoma False False False NCIT:C156309 Mental Retardation, Autosomal Dominant 39 False False False NCIT:C156310 Spinal Muscular Atrophy Type 2 False False False -NCIT:C156311 Diastrophic Dysplasia False False False NCIT:C156340 Thyroid Gland Schwannoma False False False NCIT:C156341 Thyroid Gland Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C156342 Thyroid Gland Benign Vascular Neoplasm False False False @@ -3394,15 +3371,12 @@ NCIT:C156347 Thyroid Gland Leiomyosarcoma False False False NCIT:C156348 Chemotherapy-Induced Peripheral Neuropathy False False False NCIT:C156349 Thyroid Gland Solitary Fibrous Tumor False False False NCIT:C156360 Neuropathy, Hereditary Sensory and Autonomic, Type V False False False -NCIT:C156361 Torsion Dystonia 6 False False False NCIT:C156406 Thyroid Gland Histiocytic and Dendritic Cell Neoplasm False False False NCIT:C156407 Thyroid Gland Langerhans Cell Histiocytosis False False False NCIT:C156408 Thyroid Gland Follicular Dendritic Cell Sarcoma False False False NCIT:C156409 Thyroid Gland Rosai-Dorfman Disease False False False NCIT:C156410 Thyroid Gland Follicular Lymphoma False False False NCIT:C156411 Grade 1 Teratoma False False False -NCIT:C156424 Hereditary Folate Malabsorption False False False -NCIT:C156433 Trichothiodystrophy 1, Photosensitive False False False NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive False False False NCIT:C156453 Recurrent Primary Peritoneal Serous Adenocarcinoma False False False NCIT:C156454 Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma False False False @@ -3451,7 +3425,6 @@ NCIT:C156723 Recurrent Acute Erythroid Leukemia False False False NCIT:C156731 Recurrent Acute Megakaryoblastic Leukemia False False False NCIT:C156745 Locally Advanced Microsatellite Stable Colorectal Carcinoma False False False NCIT:C156746 Advanced Digestive System Carcinoma False False False -NCIT:C156757 Parathyroid Gland Adenoma False False False NCIT:C156769 Metastatic Basal Cell Carcinoma False False False NCIT:C156770 Locally Advanced Basal Cell Carcinoma False False False NCIT:C156771 Biochemically Recurrent Prostate Carcinoma False False False @@ -3484,14 +3457,12 @@ NCIT:C157073 Recurrent Primary Diffuse Large B-Cell Lymphoma of the Central Nerv NCIT:C157074 Refractory Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System False False False NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type False False False NCIT:C157123 Infantile-Onset Multisystem Autoimmune Disease 1 False False False -NCIT:C157124 Phelan-McDermid Syndrome False False False NCIT:C157125 Recurrent Paraganglioma False False False NCIT:C157126 Unresectable Paraganglioma False False False NCIT:C157128 Unresectable Adrenal Gland Pheochromocytoma False False False NCIT:C157129 Locally Advanced Adrenal Gland Pheochromocytoma False False False NCIT:C157130 Recurrent Neuroendocrine Neoplasm False False False NCIT:C157131 Refractory Neuroendocrine Neoplasm False False False -NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related False False False NCIT:C157148 Congenital Dyserythropoietic Anemia Type IV False False False NCIT:C157150 Spastic Paraplegia 76 False False False NCIT:C157235 Breast Histiocytoid Carcinoma False False False @@ -3500,7 +3471,6 @@ NCIT:C157244 Adrenal Gland Ganglioneuroblastoma, Nodular False False False NCIT:C157245 Adrenal Gland Ganglioneuroma False False False NCIT:C157246 Composite Paraganglioma False False False NCIT:C157248 Familial Adrenal Gland Pheochromocytoma False False False -NCIT:C157266 Left Ventricular Noncompaction 7 False False False NCIT:C157267 POLG-Related Spectrum Disorders False False False NCIT:C157320 Unresectable Skin Squamous Cell Carcinoma False False False NCIT:C157324 Unresectable Skin Carcinoma False False False @@ -3527,12 +3497,10 @@ NCIT:C157475 Refractory Monomorphic Post-Transplant Lymphoproliferative Disorder NCIT:C157476 Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder False False False NCIT:C157477 Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder False False False NCIT:C157497 Castration-Resistant Prostate Carcinoma Refractory to Second-Generation Androgen Receptor Axis-Targeted Agents False False False -NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency False False False NCIT:C157573 Low Grade Anal Intraepithelial Neoplasia False False False NCIT:C157574 Anal Intraepithelial Neoplasia 2 False False False NCIT:C157575 Anal Intraepithelial Neoplasia 3 False False False NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate False False False -NCIT:C157577 Dystonia 12 False False False NCIT:C157600 Recurrent Giant Cell Glioblastoma False False False NCIT:C157601 Recurrent Ependymoma False False False NCIT:C157602 Metastatic Lung Neuroendocrine Neoplasm False False False @@ -3571,8 +3539,6 @@ NCIT:C157695 Recurrent Subcutaneous Panniculitis-Like T-Cell Lymphoma False Fals NCIT:C157696 Refractory Subcutaneous Panniculitis-Like T-Cell Lymphoma False False False NCIT:C157697 Refractory B-Cell Prolymphocytic Leukemia False False False NCIT:C157709 HIV-Related Lymphoproliferative Disorder False False False -NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma False False False -NCIT:C157733 Laryngeal Papillomatosis False False False NCIT:C157737 Kidney Synovial Sarcoma False False False NCIT:C157743 Kidney Neuroendocrine Neoplasm False False False NCIT:C157745 Childhood Cystic Nephroma False False False @@ -3599,7 +3565,6 @@ NCIT:C157783 Acute Hepatitis E Infection False False False NCIT:C157785 Amoebiasis False False False NCIT:C157794 Bacterial Skin Disorder False False False NCIT:C157804 Campylobacter Enteritis False False False -NCIT:C157812 Cholera False False False NCIT:C157813 Chronic Kidney Disease due to Diabetes Mellitus False False False NCIT:C157814 Chronic Kidney Disease due to Hypertension False False False NCIT:C157816 Non-Neoplastic Chronic Respiratory System Disorder False False False @@ -3617,13 +3582,10 @@ NCIT:C157935 Non-Communicable Disorder False False False NCIT:C157936 Non-infective Inflammatory Bowel Disease False False False NCIT:C157937 Non-ischemic Stroke False False False NCIT:C157938 Nutritional Deficiency False False False -NCIT:C157958 Pneumococcal Meningitis False False False NCIT:C157959 Pneumococcal Pneumonia False False False NCIT:C157971 Respiratory Syncytial Virus Pneumonia False False False NCIT:C157973 Rotaviral Enteritis False False False -NCIT:C157974 Salmonellosis False False False NCIT:C157977 Sexually Transmitted Chlamydial Disease False False False -NCIT:C157978 Shigellosis False False False NCIT:C157995 Subcutaneous Disorder False False False NCIT:C158032 Kidney Epithelioid Angiomyolipoma False False False NCIT:C158046 Kidney Mixed Epithelial and Stromal Tumor Family False False False @@ -3633,7 +3595,6 @@ NCIT:C158089 Advanced Digestive System Neuroendocrine Neoplasm False False False NCIT:C158090 Locally Advanced Unresectable Digestive System Neuroendocrine Neoplasm False False False NCIT:C158101 Refractory Cholangiocarcinoma False False False NCIT:C158104 Refractory WHO Grade 2 Glioma False False False -NCIT:C158135 Infantile Liver Failure Syndrome 2 False False False NCIT:C158138 Thoracic Endometriosis False False False NCIT:C158149 Recurrent Transformed B-Cell Non-Hodgkin Lymphoma False False False NCIT:C158150 Refractory Transformed B-Cell Non-Hodgkin Lymphoma False False False @@ -3681,7 +3642,6 @@ NCIT:C158731 Chronic Ocular Graft Versus Host Disease False False False NCIT:C158751 Unresectable Breast Inflammatory Carcinoma False False False NCIT:C158752 Unresectable Breast Carcinoma False False False NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct False False False -NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss False False False NCIT:C158908 Metastatic Large Cell Neuroendocrine Carcinoma False False False NCIT:C158909 Locally Advanced Neuroendocrine Carcinoma False False False NCIT:C158910 Locally Advanced Large Cell Neuroendocrine Carcinoma False False False @@ -3692,13 +3652,9 @@ NCIT:C158914 Locally Advanced Prostate Neuroendocrine Carcinoma False False Fals NCIT:C158915 Locally Advanced Small Cell Neuroendocrine Carcinoma False False False NCIT:C158960 Metastatic Pancreatic Ductal Adenocarcinoma False False False NCIT:C158961 Early Stage Pancreatic Ductal Adenocarcinoma False False False -NCIT:C158962 AH Amyloidosis False False False -NCIT:C158963 AL Amyloidosis False False False NCIT:C158964 AHL Amyloidosis False False False -NCIT:C158965 Light and Heavy Chain Deposition Disease False False False NCIT:C158966 Light Chain Proximal Tubulopathy without Crystals False False False NCIT:C158967 Crystal-Storing Histiocytosis False False False -NCIT:C158968 Immunotactoid Glomerulopathy False False False NCIT:C158969 Type I Cryoglobulinemic Glomerulonephritis False False False NCIT:C158970 Proliferative Glomerulonephritis with Monoclonal IgG Deposits False False False NCIT:C158971 C3 Glomerulopathy with Monoclonal Gammopathy False False False @@ -3738,7 +3694,6 @@ NCIT:C159562 Advanced Clear Cell Renal Cell Carcinoma False False False NCIT:C159563 Refractory Adenocarcinoma False False False NCIT:C159565 Recurrent Adenocarcinoma False False False NCIT:C159582 Bladder Neuroendocrine Tumor False False False -NCIT:C159653 Joubert Syndrome 7 False False False NCIT:C159654 Mild Non-BH4-Deficient Hyperphenylalaninemia False False False NCIT:C159655 CALFAN Syndrome False False False NCIT:C159663 Bladder Melanoma False False False @@ -3837,7 +3792,6 @@ NCIT:C161042 Prostate Inflammatory Myofibroblastic Tumor False False False NCIT:C161045 Prostate Soft Tissue Neoplasm False False False NCIT:C161048 Metastatic Colorectal Adenocarcinoma False False False NCIT:C161553 Persistent Hyaloid Vessels False False False -NCIT:C161554 Persistent Hyperplastic Primary Vitreous False False False NCIT:C161555 Persistent Pupillary Membrane False False False NCIT:C161579 Prostate Solitary Fibrous Tumor False False False NCIT:C161580 Prostate Malignant Solitary Fibrous Tumor False False False @@ -3927,7 +3881,6 @@ NCIT:C162304 EBV-Related Gastric Carcinoma False False False NCIT:C162305 EBV-Related Sarcoma False False False NCIT:C162306 EBV-Related Leiomyosarcoma False False False NCIT:C162398 Glycogen Storage Disease Type Ia False False False -NCIT:C162399 Cone-Rod Dystrophy 2 False False False NCIT:C162424 Recurrent Myelofibrosis False False False NCIT:C162425 Refractory Myelofibrosis False False False NCIT:C162441 Recurrent Colorectal Adenocarcinoma False False False @@ -4082,7 +4035,6 @@ NCIT:C163003 Non-Malignant Neoplasm False False False NCIT:C163006 Unresectable Meningioma False False False NCIT:C16317 B16 Malignant Melanoma False False False NCIT:C163754 Mental Retardation, Autosomal Dominant 40 False False False -NCIT:C163756 Spinocerebellar Ataxia Type 19/22 False False False NCIT:C163954 Advanced Bladder Urothelial Carcinoma False False False NCIT:C163955 Advanced Ureter Urothelial Carcinoma False False False NCIT:C163956 Locally Advanced Pituitary Neuroendocrine Tumor False False False @@ -4116,14 +4068,12 @@ NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies False False NCIT:C164156 Fumarate Hydratase-Deficient Renal Cell Carcinoma False False False NCIT:C164159 Locally Advanced Renal Pelvis and Ureter Urothelial Carcinoma False False False NCIT:C164160 Unresectable Renal Pelvis and Ureter Urothelial Carcinoma False False False -NCIT:C164162 Chemotherapy-Induced Alopecia False False False NCIT:C164185 Aggressive Prostate Adenocarcinoma False False False NCIT:C164186 Prostate Adenocarcinoma by AJCC v7 Stage False False False NCIT:C164198 Head and Neck Sarcoma False False False NCIT:C164205 Biphenotypic Sinonasal Sarcoma False False False NCIT:C164213 Recurrent Pyogenic Cholangitis False False False NCIT:C164214 Advanced Pancreatic Ductal Adenocarcinoma False False False -NCIT:C164225 Nemaline Myopathy 4 False False False NCIT:C164228 Hereditary Colon Carcinoma False False False NCIT:C164236 Refractory Clear Cell Renal Cell Carcinoma False False False NCIT:C164245 Metastatic Malignant PEComa False False False @@ -4140,11 +4090,8 @@ NCIT:C164256 Nasal Cavity Papilloma False False False NCIT:C164312 Unresectable Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C164313 NF1-Associated Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C164314 Sporadic Malignant Peripheral Nerve Sheath Tumor False False False -NCIT:C164315 Interstitial Lung Disease False False False NCIT:C164316 Radiation-Induced Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C16444 Cloudman S91 Malignant Melanoma False False False -NCIT:C164675 Warsaw Breakage Syndrome False False False -NCIT:C164676 Inflammatory Bowel Disease 28 False False False NCIT:C164677 Fanconi Anemia, Complementation Group L False False False NCIT:C165171 Unresectable Liver and Intrahepatic Bile Duct Carcinoma False False False NCIT:C165172 Unresectable Ampulla of Vater Carcinoma False False False @@ -4204,8 +4151,6 @@ NCIT:C165489 Hereditary Transthyretin Amyloid Cardiomyopathy False False False NCIT:C165491 Unresectable Triple-Negative Breast Carcinoma False False False NCIT:C165497 Spitz Melanoma False False False NCIT:C165498 Pigmented Epithelioid Melanocytoma False False False -NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 False False False -NCIT:C165501 Aicardi-Goutieres Syndrome 1 False False False NCIT:C165504 Reserve Cell Hyperplasia False False False NCIT:C165522 BAP1-Inactivated Skin Melanocytic Neoplasm False False False NCIT:C165523 Combined BAP1-Inactivated Nevus False False False @@ -4214,7 +4159,6 @@ NCIT:C165527 Familial Partial Lipodystrophy Type 2 False False False NCIT:C165529 Combined Nevus False False False NCIT:C165531 Gabriele-de Vries Syndrome False False False NCIT:C165532 Spontaneous Coronary Artery Dissection False False False -NCIT:C165533 Renpenning Syndrome False False False NCIT:C165535 Unresectable Acral Lentiginous Melanoma False False False NCIT:C165536 Unresectable Mucosal Melanoma False False False NCIT:C165537 Metastatic Non-Small Cell Carcinoma False False False @@ -4233,7 +4177,6 @@ NCIT:C165608 Refractory Thyroid Gland Papillary Carcinoma False False False NCIT:C165609 Refractory Thyroid Gland Follicular Carcinoma False False False NCIT:C165610 Refractory Thyroid Gland Oncocytic Carcinoma False False False NCIT:C165611 Recurrent Differentiated Thyroid Gland Carcinoma False False False -NCIT:C165614 Bone Marrow Failure Syndrome False False False NCIT:C165628 Proximal Gastric Adenocarcinoma False False False NCIT:C165630 Metastatic Proximal Gastric Adenocarcinoma False False False NCIT:C165631 Localized Malignant Pancreatic Neoplasm False False False @@ -4242,8 +4185,6 @@ NCIT:C165662 Nail Matrix Nevus False False False NCIT:C165663 CIC-DUX4 Sarcoma False False False NCIT:C165665 CIC-DUX4L Sarcoma False False False NCIT:C165671 EWSR1-Negative Small Round Cell Tumor False False False -NCIT:C165673 Aicardi-Goutieres Syndrome 2 False False False -NCIT:C165675 Relapsing-Remitting Multiple Sclerosis False False False NCIT:C165698 Metastatic Breast Adenocarcinoma False False False NCIT:C165699 Locally Advanced Breast Adenocarcinoma False False False NCIT:C165700 Advanced Breast Adenocarcinoma False False False @@ -4277,9 +4218,7 @@ NCIT:C166121 Oligometastatic Gastric Adenocarcinoma False False False NCIT:C166142 Recurrent Myeloproliferative Neoplasm False False False NCIT:C166143 Recurrent Myelodysplastic/Myeloproliferative Neoplasm False False False NCIT:C166151 Lymphedema of the Head and Neck False False False -NCIT:C166152 Severe Congenital Neutropenia False False False NCIT:C166153 Severe Congenital Neutropenia Type 3, Autosomal Recessive False False False -NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia False False False NCIT:C166156 Resectable Glioblastoma False False False NCIT:C166171 Localized Esophageal Carcinoma False False False NCIT:C166179 Localized Anaplastic Large Cell Lymphoma False False False @@ -4316,7 +4255,6 @@ NCIT:C167193 PALB2-Associated Breast Carcinoma False False False NCIT:C167202 Locally Advanced Fallopian Tube Carcinoma False False False NCIT:C167203 Metastatic Primary Peritoneal Carcinoma False False False NCIT:C167204 Locally Advanced Primary Peritoneal Carcinoma False False False -NCIT:C167215 Autosomal Recessive Osteopetrosis 1 False False False NCIT:C167216 Mental Retardation, X-Linked, Syndromic, Cabezas Type False False False NCIT:C167236 Metastatic Nasal Cavity Squamous Cell Carcinoma False False False NCIT:C167237 Resectable Colon Carcinoma False False False @@ -4324,7 +4262,6 @@ NCIT:C167238 Advanced Colon Carcinoma False False False NCIT:C167255 Refractory Prostate Carcinoma False False False NCIT:C167256 Refractory Prostate Adenocarcinoma False False False NCIT:C167260 Advanced Malignant Female Reproductive System Neoplasm False False False -NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma False False False NCIT:C167266 Recurrent Nasopharyngeal Squamous Cell Carcinoma False False False NCIT:C167324 Locally Advanced Pancreatic Neuroendocrine Tumor False False False NCIT:C167327 Midgut Neuroendocrine Tumor False False False @@ -4367,7 +4304,6 @@ NCIT:C168340 Myopathy Secondary to Glycogen Storage Disorder False False False NCIT:C16835 Experimental Malignant Melanoma False False False NCIT:C168375 Other Genetic Syndrome Associated with Congenital Heart Defect False False False NCIT:C168440 Sternotomy Scar False False False -NCIT:C168445 Sydenham Chorea False False False NCIT:C168454 Thoracotomy Scar False False False NCIT:C168497 Multiple Congenital Anomalies False False False NCIT:C168539 Gastrointestinal Tract Acute Graft Versus Host Disease False False False @@ -4382,10 +4318,8 @@ NCIT:C168572 Unresectable Differentiated Thyroid Gland Carcinoma False False Fal NCIT:C168573 Resectable Glioma False False False NCIT:C168582 Steroid Resistant Acute Graft Versus Host Disease False False False NCIT:C168583 Refractory Metastatic Pancreatic Adenocarcinoma False False False -NCIT:C168585 Aicardi-Goutieres Syndrome 7 False False False NCIT:C168586 Asparagine Synthetase Deficiency False False False NCIT:C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities False False False -NCIT:C168588 Senior-Loken Syndrome False False False NCIT:C168591 CD70 Deficiency False False False NCIT:C168592 Melanocytic Matricoma False False False NCIT:C168597 Developmental and Epileptic Encephalopathy 25 False False False @@ -4423,9 +4357,6 @@ NCIT:C168724 Unresectable Round Cell Liposarcoma False False False NCIT:C168725 Metastatic Soft Tissue Leiomyosarcoma False False False NCIT:C168727 Advanced Soft Tissue Leiomyosarcoma False False False NCIT:C168728 Unresectable Soft Tissue Leiomyosarcoma False False False -NCIT:C168729 Dystonia 16 False False False -NCIT:C168731 Oculocutaneous Albinism Type 1A False False False -NCIT:C168733 Stickler Syndrome Type 1 False False False NCIT:C168742 Familial Myelodysplastic Syndrome False False False NCIT:C168746 SAMD9-Associated Familial Myelodysplastic Syndrome False False False NCIT:C168747 SAMD9L-Associated Familial Myelodysplastic Syndrome False False False @@ -4435,8 +4366,6 @@ NCIT:C168751 Amyotrophic Lateral Sclerosis 8 False False False NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia False False False NCIT:C168753 Amyotrophic Lateral Sclerosis 11 False False False NCIT:C168754 Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia False False False -NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 False False False -NCIT:C168757 Achromatopsia 2 False False False NCIT:C168777 Metastatic HER2-Negative Breast Carcinoma False False False NCIT:C168778 Recurrent Nodal Peripheral T-Cell Lymphoma with TFH Phenotype False False False NCIT:C168779 Refractory Nodal Peripheral T-Cell Lymphoma with TFH Phenotype False False False @@ -4448,7 +4377,6 @@ NCIT:C168784 Refractory HER2-Negative Breast Carcinoma False False False NCIT:C168804 Peritoneal Sarcomatoid Mesothelioma False False False NCIT:C168805 Peritoneal Biphasic Mesothelioma False False False NCIT:C168973 Unresectable Neuroendocrine Neoplasm False False False -NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y False False False NCIT:C168976 Locally Advanced Esophageal Carcinoma False False False NCIT:C168977 Locally Advanced Anal Carcinoma False False False NCIT:C168978 Locally Advanced Adenocarcinoma False False False @@ -4460,15 +4388,11 @@ NCIT:C168984 Cutaneous Indeterminate Dendritic Cell Tumor False False False NCIT:C168985 Locally Advanced Pancreatic Carcinoma False False False NCIT:C168986 Cutaneous Rosai-Dorfman Disease False False False NCIT:C168987 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 False False False -NCIT:C168988 Sertoli Cell-Only Syndrome False False False -NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 False False False -NCIT:C168990 Bartsocas-Papas Syndrome False False False NCIT:C168991 Cutaneous Erdheim-Chester Disease False False False NCIT:C168992 Solitary Cutaneous Reticulohistiocytosis False False False NCIT:C168993 Generalized Cutaneous Reticulohistiocytosis False False False NCIT:C168994 Locally Advanced Cholangiocarcinoma False False False NCIT:C168995 Locally Advanced Renal Cell Carcinoma False False False -NCIT:C168997 Congenital Myasthenic Syndrome 12 False False False NCIT:C168998 Glycogen Storage Disease Type XI False False False NCIT:C168999 Macular Dystrophy, Retinal, 1 False False False NCIT:C169000 Optic Atrophy 1 False False False @@ -4490,7 +4414,6 @@ NCIT:C169108 Resectable Periampullary Adenocarcinoma False False False NCIT:C170433 Neuropathy, Hereditary Sensory and Autonomic, Type I False False False NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 False False False NCIT:C170435 Spastic Paraplegia 30 False False False -NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency False False False NCIT:C170458 Metastatic Pancreatobiliary Carcinoma False False False NCIT:C170459 Locally Advanced Pancreatobiliary Carcinoma False False False NCIT:C170460 Locally Advanced Malignant Female Reproductive System Neoplasm False False False @@ -4516,7 +4439,6 @@ NCIT:C170725 Benign Periampullary Neoplasm False False False NCIT:C170726 Recurrent Malignant Breast Neoplasm False False False NCIT:C170727 Recurrent Breast Sarcoma False False False NCIT:C170728 Metastatic Malignant Breast Neoplasm False False False -NCIT:C170731 Winchester Syndrome False False False NCIT:C170732 Inherited Osteolysis Syndrome False False False NCIT:C170733 Primary Peritoneal Adenocarcinoma False False False NCIT:C170734 Appendix Mucinous Neoplasm False False False @@ -4560,7 +4482,6 @@ NCIT:C170809 Advanced Endometrial Serous Adenocarcinoma False False False NCIT:C170810 Advanced Endometrial Endometrioid Adenocarcinoma False False False NCIT:C170811 Metastatic Malignant Skin Neoplasm False False False NCIT:C170812 Advanced Malignant Skin Neoplasm False False False -NCIT:C170814 Primary Brain Neoplasm False False False NCIT:C170816 Refractory Malignant Mastocytosis False False False NCIT:C170817 Recurrent Malignant Mastocytosis False False False NCIT:C170826 Unresectable Desmoplastic Small Round Cell Tumor False False False @@ -4629,7 +4550,6 @@ NCIT:C171021 Refractory Primary Peritoneal Serous Adenocarcinoma False False Fal NCIT:C171023 Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma False False False NCIT:C171026 Visceral Angiosarcoma False False False NCIT:C171028 Tongue Adenoid Cystic Carcinoma False False False -NCIT:C171031 Thymic Neuroendocrine Carcinoma False False False NCIT:C171032 Ovarian Neuroendocrine Carcinoma False False False NCIT:C171033 Endometrial Neuroendocrine Carcinoma False False False NCIT:C171036 Parietal Lobe Anaplastic Astrocytoma False False False @@ -4645,7 +4565,6 @@ NCIT:C171101 Cutaneous Lymphoma False False False NCIT:C171128 Non-Neoplastic Endocrine Pancreas Disorder False False False NCIT:C171133 COVID-19 Infection False False False NCIT:C171146 Salmonella Septicemia False False False -NCIT:C171147 Nocardiosis False False False NCIT:C171148 Wasting Syndrome False False False NCIT:C171158 Ann Arbor Stage IIX (Bulky) Diffuse Large B-Cell Lymphoma False False False NCIT:C171159 Ann Arbor Stage IIX (Bulky) Non-Hodgkin Lymphoma False False False @@ -4654,7 +4573,6 @@ NCIT:C171169 Extrarenal Rhabdoid Tumor of the Ovary False False False NCIT:C171170 Recurrent Extrarenal Rhabdoid Tumor of the Ovary False False False NCIT:C171171 Refractory Extrarenal Rhabdoid Tumor of the Ovary False False False NCIT:C171198 Postprocedural Respiratory Disorder False False False -NCIT:C171201 Salpingo-Oophoritis False False False NCIT:C171202 Supravesical Fissure of Urinary Bladder False False False NCIT:C171226 Tuberculosis of Urinary Organ False False False NCIT:C171264 Advanced Diffuse Large B-Cell Lymphoma False False False @@ -4714,7 +4632,6 @@ NCIT:C171581 Advanced Sarcomatoid Renal Cell Carcinoma False False False NCIT:C171582 Advanced Unclassified Renal Cell Carcinoma False False False NCIT:C171583 Metastatic Unclassified Renal Cell Carcinoma False False False NCIT:C171585 Unresectable Colorectal Adenocarcinoma False False False -NCIT:C171602 Peripartum Cardiomyopathy False False False NCIT:C171604 Refractory Esophageal Carcinoma False False False NCIT:C171605 Refractory Squamous Cell Carcinoma False False False NCIT:C171606 Refractory Esophageal Squamous Cell Carcinoma False False False @@ -4738,8 +4655,6 @@ NCIT:C172076 Drug Resistant Bacterial Infection False False False NCIT:C172091 Advanced Transitional Cell Carcinoma False False False NCIT:C172092 Familial Hypertrophic Cardiomyopathy Type 1 False False False NCIT:C172093 Familial Hypertrophic Cardiomyopathy Type 17 False False False -NCIT:C172094 Long QT Syndrome 5 False False False -NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 False False False NCIT:C172096 Developmental and Epileptic Encephalopathy 11 False False False NCIT:C172099 STAT1-Associated Immunodeficiency False False False NCIT:C172100 Childhood-Onset Epileptic Encephalopathy False False False @@ -4752,9 +4667,6 @@ NCIT:C172183 Progesterone Receptor Expressing Malignant Neoplasm False False Fal NCIT:C172203 Atypical Vascular Lesion of Breast False False False NCIT:C172204 Cutaneous Epithelioid Angiomatous Nodule False False False NCIT:C172206 Sinusoidal Hemangioma False False False -NCIT:C172207 Rapidly Involuting Congenital Hemangioma False False False -NCIT:C172208 Non-Involuting Congenital Hemangioma False False False -NCIT:C172209 Partially Involuting Congenital Hemangioma False False False NCIT:C172218 Locally Advanced Papillary Renal Cell Carcinoma False False False NCIT:C172219 Locally Advanced Sarcomatoid Renal Cell Carcinoma False False False NCIT:C172222 Locally Advanced Unclassified Renal Cell Carcinoma False False False @@ -4787,10 +4699,8 @@ NCIT:C172312 Refractory Grade 2 Follicular Lymphoma False False False NCIT:C172313 Egg Allergy False False False NCIT:C172314 Refractory Grade 3 Follicular Lymphoma False False False NCIT:C172315 Refractory Grade 3a Follicular Lymphoma False False False -NCIT:C172316 Fruit Allergy False False False NCIT:C172317 Meat Allergy False False False NCIT:C172318 Refractory Grade 3b Follicular Lymphoma False False False -NCIT:C172320 Shellfish Allergy False False False NCIT:C172321 Wasp Venom Allergy False False False NCIT:C172323 Recurrent Grade 3b Follicular Lymphoma False False False NCIT:C172328 Dental Agenesis False False False @@ -4803,8 +4713,6 @@ NCIT:C172362 Advanced Basal Cell Carcinoma False False False NCIT:C172371 Advanced Non-Hodgkin Lymphoma False False False NCIT:C172373 Advanced Hodgkin Lymphoma False False False NCIT:C172378 Severe Acute Respiratory Distress Syndrome False False False -NCIT:C172392 Primary Ciliary Dyskinesia 3 False False False -NCIT:C172393 Primary Ciliary Dyskinesia 29 False False False NCIT:C172442 Advanced Primary Cutaneous T-Cell Non-Hodgkin Lymphoma False False False NCIT:C172450 Advanced Uterine Corpus Cancer False False False NCIT:C172617 Advanced Kidney Carcinoma False False False @@ -4854,7 +4762,6 @@ NCIT:C172700 Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma Fal NCIT:C172701 Colorectal Neuroendocrine Tumor G3 False False False NCIT:C172702 Colon Neuroendocrine Tumor G3 False False False NCIT:C172703 Rectal Neuroendocrine Tumor G3 False False False -NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 False False False NCIT:C172706 High Grade Anal Intraepithelial Neoplasia False False False NCIT:C172707 Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma False False False NCIT:C172709 Steatohepatitic Hepatocellular Carcinoma False False False @@ -4904,13 +4811,11 @@ NCIT:C172952 Digestive System Rhabdomyosarcoma False False False NCIT:C172953 Refractory Meningioma False False False NCIT:C172955 Digestive System Kaposi Sarcoma False False False NCIT:C172980 Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal Neuroectodermal Tumor False False False -NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach False False False NCIT:C173046 Refractory Indolent Non-Hodgkin Lymphoma False False False NCIT:C173077 Sinonasal Keratinizing Squamous Cell Carcinoma False False False NCIT:C173078 Sinonasal Human Papillomavirus-Related Carcinoma with Adenoid Cystic-Like Features False False False NCIT:C173079 Sinonasal Spindle Cell Squamous Cell Carcinoma False False False NCIT:C173080 Sinonasal Lymphoepithelial Carcinoma False False False -NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 False False False NCIT:C173087 Head and Neck NUT Carcinoma False False False NCIT:C173088 Sinonasal NUT Carcinoma False False False NCIT:C173089 Sinonasal Neuroendocrine Carcinoma False False False @@ -4918,13 +4823,6 @@ NCIT:C173091 Sinonasal Large Cell Neuroendocrine Carcinoma False False False NCIT:C173094 Sinonasal Teratocarcinosarcoma False False False NCIT:C173095 Benign Sinonasal Neoplasm False False False NCIT:C173097 Malignant Sinonasal Neoplasm False False False -NCIT:C173099 Trichothiodystrophy 3, Photosensitive False False False -NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive False False False -NCIT:C173103 Trichothiodystrophy 2, Photosensitive False False False -NCIT:C173106 UV-Sensitive Syndrome 1 False False False -NCIT:C173107 UV-Sensitive Syndrome 3 False False False -NCIT:C173110 UV-Sensitive Syndrome 2 False False False -NCIT:C173111 XFE Progeroid Syndrome False False False NCIT:C173112 Sinonasal Respiratory Epithelial Adenomatoid Hamartoma False False False NCIT:C173113 Sinonasal Seromucinous Hamartoma False False False NCIT:C173114 Sinonasal Pleomorphic Adenoma False False False @@ -4940,7 +4838,6 @@ NCIT:C173126 Secondary Hemochromatosis False False False NCIT:C173127 Sinonasal Malignant Peripheral Nerve Sheath Tumor False False False NCIT:C173128 Sinonasal Synovial Sarcoma False False False NCIT:C173129 Congestive Hepatopathy False False False -NCIT:C173131 Dyschromatosis Universalis Hereditaria False False False NCIT:C173132 Intermediate Sinonasal Soft Tissue Neoplasm False False False NCIT:C173133 Sinonasal Desmoid Fibromatosis False False False NCIT:C173136 Sinonasal Glomangiopericytoma False False False @@ -4951,7 +4848,6 @@ NCIT:C173140 Sinonasal Leiomyoma False False False NCIT:C173142 Sinonasal Hemangioma False False False NCIT:C173143 Sinonasal Schwannoma False False False NCIT:C173144 Sinonasal Neurofibroma False False False -NCIT:C173146 3-Methylglutaconic Aciduria Type 5 False False False NCIT:C173147 Crisponi/Cold-Induced Sweating Syndrome-1 False False False NCIT:C173148 Crisponi/Cold-Induced Sweating Syndrome-2 False False False NCIT:C173154 Recurrent Intracranial Neoplasm False False False @@ -5068,7 +4964,6 @@ NCIT:C173616 Unresectable Pleural Epithelioid Mesothelioma False False False NCIT:C173617 Unresectable Pleural Sarcomatoid Mesothelioma False False False NCIT:C173618 Unresectable Pleural Biphasic Mesothelioma False False False NCIT:C173625 Dilated Cardiomyopathy-1P False False False -NCIT:C173626 Karyomegalic Interstitial Nephritis False False False NCIT:C173637 Unresectable Hereditary Thyroid Gland Medullary Carcinoma False False False NCIT:C173638 Recurrent Hereditary Thyroid Gland Medullary Carcinoma False False False NCIT:C173642 Transfusion Dependent Thalassemia False False False @@ -5111,9 +5006,7 @@ NCIT:C173783 Fibrinolysis Shutdown False False False NCIT:C173784 Post-Intensive Care Syndrome False False False NCIT:C173788 Very Severe Aplastic Anemia False False False NCIT:C173789 Non-Severe Aplastic Anemia False False False -NCIT:C173793 Tongue Disorder False False False NCIT:C173794 Non-Neoplastic Tongue Disorder False False False -NCIT:C173795 Gingival Disorder False False False NCIT:C173796 Non-Neoplastic Gingival Disorder False False False NCIT:C173797 Tonsillar Disorder False False False NCIT:C173798 Non-Neoplastic Tonsillar Disorder False False False @@ -5127,7 +5020,6 @@ NCIT:C173813 Pancreatic Squamous Cell Carcinoma False False False NCIT:C173814 Locally Advanced Intrahepatic Cholangiocarcinoma False False False NCIT:C173815 Recurrent Ectomesenchymoma False False False NCIT:C173819 Primordial Odontogenic Tumor False False False -NCIT:C173820 Ossifying Fibroma False False False NCIT:C173841 Maxillofacial Sarcoma False False False NCIT:C173842 Maxillofacial Chondrosarcoma False False False NCIT:C173843 Maxillofacial Mesenchymal Chondrosarcoma False False False @@ -5170,7 +5062,6 @@ NCIT:C174047 Recurrent Poorly Differentiated Thyroid Gland Carcinoma False False NCIT:C174054 Recurrent AL Amyloidosis False False False NCIT:C174055 Refractory AL Amyloidosis False False False NCIT:C174107 Chronic Intestinal Cryptosporidiosis False False False -NCIT:C174113 Cryptococcal Meningitis False False False NCIT:C174114 Lymphocytic Meningitis False False False NCIT:C174122 Locally Advanced Rectal Adenocarcinoma False False False NCIT:C174184 Alcoholic Cirrhosis with Ascites False False False @@ -5183,7 +5074,6 @@ NCIT:C174201 Metastatic Vulvar Squamous Cell Carcinoma False False False NCIT:C174202 Recurrent Supratentorial Glioblastoma False False False NCIT:C174215 Age-Related Macular Degeneration-4 False False False NCIT:C174216 Congenital Myasthenic Syndrome-4C False False False -NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome False False False NCIT:C174218 Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency False False False NCIT:C174247 Refractory Intrahepatic Cholangiocarcinoma False False False NCIT:C174377 Radiculoneuropathy False False False @@ -5203,8 +5093,6 @@ NCIT:C174418 Conjunctival Compound Nevus False False False NCIT:C174426 Conjunctival Subepithelial Nevus False False False NCIT:C174435 Dilated Cardiomyopathy-1DD False False False NCIT:C174436 Deafness, Autosomal Recessive 36 False False False -NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency False False False -NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 False False False NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome False False False NCIT:C174443 Locally Advanced Adrenal Cortical Carcinoma False False False NCIT:C174444 Deafness, Autosomal Dominant 36 False False False @@ -5233,7 +5121,6 @@ NCIT:C174543 Nodular and Massive Retinal Gliosis False False False NCIT:C174545 Congenital Hypertrophy of the Retinal Pigment Epithelium False False False NCIT:C174546 Retinal Hamartoma False False False NCIT:C174547 Simple Hamartoma of the Retinal Pigment Epithelium False False False -NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium False False False NCIT:C174549 Reactive Hyperplasia of the Retinal Pigment Epithelium False False False NCIT:C174550 Adenoma of the Retinal Pigment Epithelium False False False NCIT:C174551 Retinal Pigment Epithelium Adenocarcinoma False False False @@ -5253,10 +5140,6 @@ NCIT:C174572 Unresectable Thyroid Gland Oncocytic Carcinoma False False False NCIT:C174573 Recurrent Thyroid Gland Oncocytic Carcinoma False False False NCIT:C174574 Metastatic Thyroid Gland Oncocytic Carcinoma False False False NCIT:C175047 Developmental and Epileptic Encephalopathy 26 False False False -NCIT:C175048 Exudative Vitreoretinopathy 1 False False False -NCIT:C175208 Familial Digital Arthropathy-Brachydactyly False False False -NCIT:C175209 Metatropic Dysplasia False False False -NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 False False False NCIT:C175214 Incidental Gallbladder Carcinoma False False False NCIT:C175215 Neurocutaneous Melanosis False False False NCIT:C175216 Recurrent Transformed Marginal Zone Lymphoma to Diffuse Large B-Cell Lymphoma False False False @@ -5272,7 +5155,6 @@ NCIT:C175225 Visual Pathway Medulloepithelioma False False False NCIT:C175236 Advanced Triple-Negative Breast Carcinoma False False False NCIT:C175237 Locally Advanced Triple-Negative Breast Carcinoma False False False NCIT:C175240 Autosomal Dominant Congenital Deafness with Onychodystrophy False False False -NCIT:C175241 Floating-Harbor Syndrome False False False NCIT:C175257 Non-Neoplastic Lacrimal System Disorder False False False NCIT:C175259 Nasolacrimal Duct Neoplasm False False False NCIT:C175264 Lacrimal Gland Oncocytoma False False False @@ -5379,10 +5261,8 @@ NCIT:C175668 Refractory Adenoid Cystic Carcinoma False False False NCIT:C175669 Locally Advanced Adenoid Cystic Carcinoma False False False NCIT:C175670 Refractory Desmoid Fibromatosis False False False NCIT:C175700 Deafness, Autosomal Dominant 41 False False False -NCIT:C175702 Joubert Syndrome 17 False False False NCIT:C175705 Ring Chromosome 8 Syndrome False False False NCIT:C175706 Ring Chromosome 18 Syndrome False False False -NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 False False False NCIT:C175882 Epiretinal Membrane False False False NCIT:C175883 Vitreoretinal Disorder False False False NCIT:C175934 Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes False False False @@ -5427,7 +5307,6 @@ NCIT:C176558 Localized Sarcoma False False False NCIT:C176579 Invasive Female Breast Carcinoma False False False NCIT:C176580 Female Breast Carcinoma In Situ False False False NCIT:C176588 CHEK2-Associated Li-Fraumeni-Like Syndrome False False False -NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 False False False NCIT:C176593 Congenital Defects of Phagocyte Number, Function, or Both False False False NCIT:C176594 Defects in Intrinsic and Innate Immunity False False False NCIT:C176595 Immune Dysregulation Disorder False False False @@ -5441,17 +5320,12 @@ NCIT:C176602 Severe Congenital Neutropenia Type 6, Autosomal Recessive False Fal NCIT:C176605 Severe Combined Immunodeficiency due to CD45 Deficiency False False False NCIT:C176606 Severe Combined Immunodeficiency due to RAG1 Deficiency False False False NCIT:C176607 Severe Combined Immunodeficiency due to RAG2 Deficiency False False False -NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 False False False NCIT:C176610 Severe Congenital Neutropenia Type 2, Autosomal Dominant False False False NCIT:C176611 Severe Congenital Neutropenia Type 4, Autosomal Recessive False False False NCIT:C176612 Severe Congenital Neutropenia Type 5, Autosomal Recessive False False False NCIT:C176614 Severe Congenital Neutropenia Type 7, Autosomal Recessive False False False -NCIT:C176617 Thrombocytopenia 1 False False False -NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 False False False NCIT:C176622 Gastrointestinal Defects And Immunodeficiency Syndrome False False False -NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia False False False NCIT:C176628 CDH1-Associated Breast Carcinoma Syndrome False False False -NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis False False False NCIT:C176631 PIK3R1 Deficiency False False False NCIT:C176678 Metastatic Malignant Small Intestinal Neoplasm False False False NCIT:C176679 Advanced Malignant Small Intestinal Neoplasm False False False @@ -5483,19 +5357,14 @@ NCIT:C176800 IL12RB1-Associated Immunodeficiency False False False NCIT:C176801 Immunodeficiency, Common Variable, 11 False False False NCIT:C176804 Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive False False False NCIT:C176805 Interferon Gamma Receptor 2 Deficiency False False False -NCIT:C176806 Immunodeficiency 27A False False False NCIT:C176807 Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative False False False NCIT:C176808 LCK-Associated Immunodeficiency False False False NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity False False False -NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency False False False NCIT:C176818 Neutropenia, Severe Congenital, X-Linked False False False NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome False False False -NCIT:C176820 Wiskott-Aldrich Syndrome 2 False False False NCIT:C176821 Immunodeficiency 48 False False False NCIT:C176822 Autosomal Recessive Agammaglobulinemia False False False -NCIT:C176823 MHC Class II Deficiency False False False NCIT:C176825 Interferon Regulatory Factor 8 Deficiency False False False -NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 False False False NCIT:C176827 Severe Congenital Neutropenia Type 1, Autosomal Dominant False False False NCIT:C176857 Locally Advanced Lung Small Cell Carcinoma False False False NCIT:C176858 Refractory Lung Non-Squamous Non-Small Cell Carcinoma False False False @@ -5511,51 +5380,14 @@ NCIT:C176891 Advanced Intrahepatic Cholangiocarcinoma False False False NCIT:C176892 Refractory Esophageal Adenocarcinoma False False False NCIT:C176894 Fanconi Anemia, Complementation Group N False False False NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 False False False -NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 False False False NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects False False False NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies False False False NCIT:C176899 Familial Hypertrophic Cardiomyopathy Type 14 False False False NCIT:C176900 Nonaka Myopathy False False False -NCIT:C176901 Spinocerebellar Ataxia Type 31 False False False NCIT:C176902 Atypical Hemolytic Uremic Syndrome-4 False False False -NCIT:C176903 Rett Syndrome, Congenital Variant False False False -NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome False False False NCIT:C176905 Melanoma-Astrocytoma Syndrome False False False NCIT:C176906 Familial Gastrointestinal Stromal Tumor False False False -NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 False False False -NCIT:C176909 Ataxia-Pancytopenia Syndrome False False False NCIT:C176910 Fanconi Anemia, Complementation Group O False False False -NCIT:C176911 Diamond-Blackfan Anemia 1 False False False -NCIT:C176912 Diamond-Blackfan Anemia 3 False False False -NCIT:C176913 Diamond-Blackfan Anemia 4 False False False -NCIT:C176914 Diamond-Blackfan Anemia 5 False False False -NCIT:C176915 Diamond-Blackfan Anemia 6 False False False -NCIT:C176916 Diamond-Blackfan Anemia 7 False False False -NCIT:C176917 Diamond-Blackfan Anemia 8 False False False -NCIT:C176918 Diamond-Blackfan Anemia 9 False False False -NCIT:C176919 Diamond-Blackfan Anemia 10 False False False -NCIT:C176920 Diamond-Blackfan Anemia 11 False False False -NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 False False False -NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 False False False -NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 False False False -NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 False False False -NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 False False False -NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 False False False -NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 False False False -NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 False False False -NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 False False False -NCIT:C176930 Noonan Syndrome 2 False False False -NCIT:C176931 Noonan Syndrome 3 False False False -NCIT:C176932 Noonan Syndrome 4 False False False -NCIT:C176933 Noonan Syndrome 5 False False False -NCIT:C176934 Noonan Syndrome 6 False False False -NCIT:C176935 Noonan Syndrome 7 False False False -NCIT:C176936 Noonan Syndrome 8 False False False -NCIT:C176937 Noonan Syndrome 9 False False False -NCIT:C176938 Noonan Syndrome 10 False False False -NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 False False False -NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 False False False -NCIT:C176941 Legius Syndrome False False False NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia False False False NCIT:C176943 Infantile Myofibromatosis 1 False False False NCIT:C176944 Infantile Myofibromatosis 2 False False False @@ -5571,22 +5403,17 @@ NCIT:C176998 Refractory Giant Cell Glioblastoma False False False NCIT:C176999 Recurrent Sezary Syndrome False False False NCIT:C177000 Refractory Sezary Syndrome False False False NCIT:C177001 Immune Checkpoint Inhibitor-Induced Dermatitis False False False -NCIT:C177119 Noonan Syndrome 11 False False False -NCIT:C177120 Noonan Syndrome 12 False False False -NCIT:C177121 Noonan Syndrome 13 False False False NCIT:C177122 Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome False False False NCIT:C177149 Refractory Male Reproductive System Carcinoma False False False NCIT:C177150 Refractory Penile Carcinoma False False False NCIT:C177151 Refractory Rectal Squamous Cell Carcinoma False False False NCIT:C177153 Metastatic Nasopharyngeal Nonkeratinizing Carcinoma False False False NCIT:C177243 Metastatic Lung Carcinoid Tumor False False False -NCIT:C177244 Temporal Lobe Epilepsy False False False NCIT:C177245 Advanced Lung Carcinoid Tumor False False False NCIT:C177246 Unresectable Lung Carcinoid Tumor False False False NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 False False False NCIT:C177249 Familial Hypertrophic Cardiomyopathy Type 6 False False False NCIT:C177250 Spastic Paraplegia 5A False False False -NCIT:C177251 Behr Syndrome False False False NCIT:C177252 Autosomal Recessive Spastic Ataxia-2 False False False NCIT:C177278 EWSR1-SMAD3-Positive Fibroblastic Tumor False False False NCIT:C177323 Angiofibroma of Soft Tissue False False False @@ -5596,16 +5423,11 @@ NCIT:C177364 Somatic-Type Malignancy False False False NCIT:C177414 Epithelioid Myxofibrosarcoma False False False NCIT:C177425 Immune Checkpoint Inhibitor-related Myocarditis False False False NCIT:C177438 Bone Cement Implantation Syndrome False False False -NCIT:C177444 Spinal Stenosis False False False -NCIT:C177445 Lumbar Spinal Stenosis False False False NCIT:C177451 Idiopathic Cytopenia of Undetermined Significance False False False NCIT:C177452 Clonal Cytopenia of Undetermined Significance False False False NCIT:C177453 Idiopathic Dysplasia of Uncertain Significance False False False NCIT:C177531 Bladder Flat Urothelial Carcinoma False False False -NCIT:C177534 Long QT Syndrome 14 False False False -NCIT:C177535 Poikiloderma with Neutropenia False False False NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis False False False -NCIT:C177544 Xq25 Microduplication Syndrome False False False NCIT:C177545 Developmental and Epileptic Encephalopathy 46 False False False NCIT:C177546 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency False False False NCIT:C177547 STING-Associated Vasculopathy, Infantile-Onset False False False @@ -5628,7 +5450,6 @@ NCIT:C177774 Ovarian Dermoid Cyst with Somatic-Type Malignancy False False False NCIT:C177775 Thoracic Chordoma False False False NCIT:C177776 Microsatellite Stable Rectal Carcinoma False False False NCIT:C177777 Microsatellite Stable Colon Carcinoma False False False -NCIT:C177779 Hemimegalencephaly False False False NCIT:C177793 Refractory Low Grade Glioma False False False NCIT:C177794 Recurrent Low Grade Glioma False False False NCIT:C177795 Refractory Low Grade Astrocytoma False False False @@ -5641,7 +5462,6 @@ NCIT:C177802 Advanced Large Cell Neuroendocrine Carcinoma False False False NCIT:C177895 Recurrent B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 False False False NCIT:C177898 Poorly Differentiated Chordoma False False False NCIT:C178082 Avascular Necrosis of the Joint False False False -NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair False False False NCIT:C178217 EBV-Associated Smooth Muscle Tumor False False False NCIT:C178220 Pleomorphic Leiomyosarcoma False False False NCIT:C178222 Dedifferentiated Leiomyosarcoma False False False @@ -5657,18 +5477,14 @@ NCIT:C178348 Locally Advanced HER2-Negative Breast Carcinoma False False False NCIT:C178372 Unresectable Myxofibrosarcoma False False False NCIT:C178375 Triple-Class Refractory Plasma Cell Myeloma False False False NCIT:C178382 CDC73-Related Neoplastic Syndrome False False False -NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 False False False -NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 False False False NCIT:C178411 Amyotrophic Lateral Sclerosis 23 False False False NCIT:C178412 Bartter Syndrome, Type 1 False False False NCIT:C178413 Episodic Kinesigenic Dyskinesia-1 False False False NCIT:C178414 Mental Retardation, Autosomal Dominant 5 False False False -NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis False False False NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome False False False NCIT:C178417 Arrhythmia-Induced Cardiomyopathy False False False NCIT:C178426 NTRK-Rearranged Spindle Cell Neoplasm False False False NCIT:C178437 Mucosal Melanoma of the Female Genital Tract False False False -NCIT:C178441 Ovarian Melanoma False False False NCIT:C178443 Mucosal Melanoma of the Genitourinary System False False False NCIT:C178453 Mucosal Melanoma of the Urinary System False False False NCIT:C178459 Round Cell Sarcoma with EWSR1-non-ETS Fusion False False False @@ -5702,7 +5518,6 @@ NCIT:C178519 Gastric Melanoma False False False NCIT:C178521 Pharyngeal Melanoma False False False NCIT:C178522 Nasopharyngeal Melanoma False False False NCIT:C178523 Yolk Sac Tumor with Somatic-Type Malignancy False False False -NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma False False False NCIT:C178547 Aggressive T-Cell Non-Hodgkin Lymphoma False False False NCIT:C178553 Recurrent Aggressive B-Cell Non-Hodgkin Lymphoma False False False NCIT:C178554 Recurrent Aggressive T-Cell Non-Hodgkin Lymphoma False False False @@ -5742,8 +5557,6 @@ NCIT:C178697 Platinum-Refractory Malignant Female Reproductive System Neoplasm F NCIT:C178698 Platinum-Refractory Fallopian Tube Carcinoma False False False NCIT:C178700 Platinum-Refractory Ovarian Carcinoma False False False NCIT:C178702 Platinum-Refractory Primary Peritoneal Carcinoma False False False -NCIT:C178826 Rothmund-Thomson Syndrome Type 1 False False False -NCIT:C178827 Rothmund-Thomson Syndrome Type 2 False False False NCIT:C178901 Current Cytomegalovirus Infection False False False NCIT:C178902 Current EBV Infection False False False NCIT:C178903 Current Hepatitis B Infection False False False @@ -5791,7 +5604,6 @@ NCIT:C179295 Familial Hypertrophic Cardiomyopathy Type 26 False False False NCIT:C179296 Developmental and Epileptic Encephalopathy 76 False False False NCIT:C179297 Idiopathic Basal Ganglia Calcification False False False NCIT:C179298 Acromesomelic Dysplasia, PRKG2 Type False False False -NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy False False False NCIT:C179320 Mesonephric-Like Adenocarcinoma False False False NCIT:C179321 Ovarian Mesonephric-Like Adenocarcinoma False False False NCIT:C179322 Endometrial Mesonephric-Like Adenocarcinoma False False False @@ -5829,11 +5641,9 @@ NCIT:C179555 Advanced HER2-Low Breast Carcinoma False False False NCIT:C179560 Peritoneal Calcifying Fibrous Tumor False False False NCIT:C179562 Peritoneal Low Grade Endometrioid Stromal Sarcoma False False False NCIT:C179570 Glucose-6-Phosphatase 3 Deficiency False False False -NCIT:C179648 Multiple Organ Dysfunction Syndrome False False False NCIT:C179654 Metastatic Carcinoma in the Peritoneum False False False NCIT:C179656 Peritoneal Sarcomatosis False False False NCIT:C179657 Metastatic Sarcoma in the Peritoneum False False False -NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome False False False NCIT:C179677 Locally Advanced Chromophobe Renal Cell Carcinoma False False False NCIT:C179702 Ring Chromosome 22 Syndrome False False False NCIT:C179703 Ring Chromosome 13 Syndrome False False False @@ -5846,11 +5656,8 @@ NCIT:C179721 Transformed B-Cell Lymphoma, Unclassifiable, with Features Intermed NCIT:C179738 Serous Tubal Intraepithelial Lesion False False False NCIT:C179742 Fallopian Tube Metaplastic Papillary Lesion False False False NCIT:C179743 Placental Site Nodule and Plaque Occurring in the Fallopian Tube False False False -NCIT:C179861 Spinocerebellar Ataxia Type 17 False False False NCIT:C179863 Spastic Paraplegia 50 False False False NCIT:C179866 Developmental and Epileptic Encephalopathy 1 False False False -NCIT:C179867 46,XX Sex Reversal 1 False False False -NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay False False False NCIT:C179882 Basal Ganglia Neoplasm False False False NCIT:C179883 Cerebellar Peduncle Neoplasm False False False NCIT:C179884 Corpus Callosum Neoplasm False False False @@ -5858,7 +5665,6 @@ NCIT:C179885 Optic Tract Neoplasm False False False NCIT:C179886 Optic Chiasm Neoplasm False False False NCIT:C179888 Esophageal Carcinoma Cuniculatum False False False NCIT:C179894 Oral Cavity Carcinoma Cuniculatum False False False -NCIT:C179915 PTEN Hamartoma Tumor Syndrome False False False NCIT:C179921 Broad Ligament Papillary Cystadenoma False False False NCIT:C179923 Uterine Ligament Leiomyoma False False False NCIT:C179924 Broad Ligament Leiomyoma False False False @@ -5867,7 +5673,6 @@ NCIT:C179926 Broad Ligament Leiomyosarcoma False False False NCIT:C179927 Uterine Ligament Wolffian Tumor False False False NCIT:C179928 Uterine Ligament Ependymoma False False False NCIT:C179929 Broad Ligament Ependymoma False False False -NCIT:C179930 Proteus-Like Syndrome False False False NCIT:C179931 Broad Ligament Neoplasm False False False NCIT:C179932 Dedifferentiated Gastrointestinal Stromal Tumor False False False NCIT:C179933 Benign Broad Ligament Neoplasm False False False @@ -5904,7 +5709,6 @@ NCIT:C180542 Uterine Corpus Epithelioid Smooth Muscle Tumor of Uncertain Maligna NCIT:C180545 Uterine Corpus Inflammatory Myofibroblastic Tumor False False False NCIT:C180546 Uterine Corpus Central Primitive Neuroectodermal Tumor False False False NCIT:C180553 Thrombotic Disorder False False False -NCIT:C180557 Apraxia False False False NCIT:C180604 Muscle Invasive Bladder Urothelial Carcinoma False False False NCIT:C180605 Localized Muscle Invasive Bladder Urothelial Carcinoma False False False NCIT:C180606 High Grade Urothelial Carcinoma False False False @@ -5955,7 +5759,6 @@ NCIT:C180895 Advanced Non-Cutaneous Melanoma False False False NCIT:C180896 Advanced Mucosal Melanoma False False False NCIT:C180897 Refractory Acute Myeloid Leukemia with Myelodysplasia-Related Changes False False False NCIT:C180914 Vaginal Atrophy False False False -NCIT:C180915 Vaginal Squamous Cell Carcinoma False False False NCIT:C180917 Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma False False False NCIT:C180919 Human Papillomavirus-Independent Vaginal Squamous Cell Carcinoma False False False NCIT:C180920 Advanced Vaginal Adenocarcinoma False False False @@ -5980,9 +5783,7 @@ NCIT:C180996 Cranial Nerve VIII Palsy False False False NCIT:C180997 Cranial Nerve X Palsy False False False NCIT:C180998 Cranial Nerve XI Palsy False False False NCIT:C180999 Cranial Nerve XII Palsy False False False -NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y False False False NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type False False False -NCIT:C181002 Joubert Syndrome 9 False False False NCIT:C181028 Metastatic Vaginal Adenosquamous Carcinoma False False False NCIT:C181029 Advanced Vaginal Adenosquamous Carcinoma False False False NCIT:C181031 Metastatic Vaginal Squamous Cell Carcinoma False False False @@ -5999,7 +5800,6 @@ NCIT:C181078 Hybrid Salivary Gland Tumor False False False NCIT:C181079 Hybrid Salivary Gland Carcinoma False False False NCIT:C181081 Early Stage Triple-Negative Breast Carcinoma False False False NCIT:C181157 Jejunal Carcinoma False False False -NCIT:C181158 Jejunal Adenocarcinoma False False False NCIT:C181159 Eyelid Basal Cell Carcinoma False False False NCIT:C181160 Tongue Mucoepidermoid Carcinoma False False False NCIT:C181161 Major Salivary Gland Squamous Cell Carcinoma False False False @@ -6035,7 +5835,6 @@ NCIT:C181598 Stage IIIC2 Cervical Cancer AJCC v9 False False False NCIT:C181599 Stage IV Cervical Cancer AJCC v9 False False False NCIT:C181601 Stage IVA Cervical Cancer AJCC v9 False False False NCIT:C181603 Stage IVB Cervical Cancer AJCC v9 False False False -NCIT:C181652 Monoclonal Mast Cell Activation Syndrome False False False NCIT:C181657 Spastic Paraplegia 7 False False False NCIT:C181714 Epiglottic Squamous Cell Carcinoma False False False NCIT:C181757 Coronavirus Infection False False False @@ -6064,7 +5863,6 @@ NCIT:C181906 Benign Vulvar Phyllodes Tumor False False False NCIT:C181907 Borderline Vulvar Phyllodes Tumor False False False NCIT:C181909 Cervical Florid Reactive Lymphoid Hyperplasia False False False NCIT:C181910 Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma False False False -NCIT:C181924 VEXAS Syndrome False False False NCIT:C181925 Vulvar Lipoblastoma-Like Tumor False False False NCIT:C181926 Vulvar Prepubertal Fibroma False False False NCIT:C181935 Vulvar Solitary Fibrous Tumor False False False @@ -6106,7 +5904,6 @@ NCIT:C182151 Diffuse Midline Glioma False False False NCIT:C182235 Second Primary Tumor False False False NCIT:C182357 Diffusion Restriction False False False NCIT:C182436 Diffuse Non-Pontine Midline Glioma False False False -NCIT:C182452 Dysgraphia False False False NCIT:C183045 Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor False False False NCIT:C183109 Invasive Lung Non-Mucinous Adenocarcinoma False False False NCIT:C183115 Thoracic SMARCA4-Deficient Undifferentiated Tumor False False False @@ -6138,7 +5935,6 @@ NCIT:C183308 Benign Familial Infantile Seizures False False False NCIT:C183309 Familial Restrictive Cardiomyopathy 5 False False False NCIT:C183310 Hypomyelinating Leukodystrophy-6 False False False NCIT:C183311 Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type False False False -NCIT:C183312 Moyamoya Disease 2 False False False NCIT:C183313 Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features False False False NCIT:C183314 Thymic Enteric-Type Adenocarcinoma False False False NCIT:C183315 Thymic Adenocarcinoma, Not Otherwise Specified False False False @@ -6153,11 +5949,8 @@ NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type False False Fa NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type False False False NCIT:C183526 Methylmalonic Aciduria and Homocystinuria, cblJ Type False False False NCIT:C183527 Methylmalonic Acidemia, TcblR Type False False False -NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 False False False NCIT:C183531 Mitochondrial DNA Depletion Syndrome-9 False False False -NCIT:C183562 Actinic Cheilitis False False False NCIT:C184295 Salivary Gland Adenoma False False False -NCIT:C184324 Recurrent Acute Pancreatitis False False False NCIT:C184957 Bronchiolitis Obliterans Syndrome False False False NCIT:C184958 Post-Hepatitis Chronic Hepatopathy False False False NCIT:C184989 Familial Hypertrophic Cardiomyopathy Type 7 False False False @@ -6203,8 +5996,6 @@ NCIT:C185235 Mitochondrial DNA Depletion Syndromes False False False NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) False False False NCIT:C185237 Developmental and Epileptic Encephalopathy 31 False False False NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 False False False -NCIT:C185242 Otosclerosis False False False -NCIT:C185243 Meniere Disease False False False NCIT:C185244 Y-Linked Spermatogenic Failure-2 False False False NCIT:C185245 Familial Catecholamine-Induced QT Prolongation False False False NCIT:C185246 AMeD Syndrome False False False @@ -6233,7 +6024,6 @@ NCIT:C185472 Infant-Type Hemispheric Glioma, NTRK-Altered False False False NCIT:C185473 Infant-Type Hemispheric Glioma, ROS1-Altered False False False NCIT:C185474 Infant-Type Hemispheric Glioma, ALK-Altered False False False NCIT:C185475 Infant-Type Hemispheric Glioma, MET-Altered False False False -NCIT:C185635 49,XXXXY Syndrome False False False NCIT:C185638 Ring Chromosome 14 Syndrome False False False NCIT:C185752 Extranodal Lymphoma False False False NCIT:C185753 Extranodal Non-Hodgkin Lymphoma False False False @@ -6257,7 +6047,6 @@ NCIT:C186276 Unresectable Primary Peritoneal Endometrioid Adenocarcinoma False F NCIT:C186278 Ring Chromosome 21 Syndrome False False False NCIT:C186283 Locally Advanced Unresectable HER2-Positive Breast Carcinoma False False False NCIT:C186284 Unresectable HER2-Positive Breast Carcinoma False False False -NCIT:C186306 Keipert Syndrome False False False NCIT:C186307 Multiorgan Venous and Lymphatic Defect Syndrome False False False NCIT:C186308 Dactylomegaly False False False NCIT:C186343 Supratentorial Ependymoma False False False @@ -6374,7 +6163,6 @@ NCIT:C187273 Low Risk Thyroid Gland Neoplasm False False False NCIT:C187279 Retinal Hemorrhage False False False NCIT:C187280 Choroidal Hemorrhage False False False NCIT:C187284 Thyroid Gland Tumor of Uncertain Malignant Potential False False False -NCIT:C187288 Pigment Dispersion Syndrome False False False NCIT:C187316 Advanced Malignant Testicular Germ Cell Tumor False False False NCIT:C187328 Locally Advanced Carcinoid Tumor False False False NCIT:C187332 Locally Advanced Digestive System Neuroendocrine Tumor G1 False False False @@ -6410,7 +6198,6 @@ NCIT:C187984 Glomerulopathy with Fibronectin Deposits-2 False False False NCIT:C187985 Mouse Mantle Cell Lymphoma False False False NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 False False False NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant False False False -NCIT:C187989 Meester-Loeys Syndrome False False False NCIT:C187992 Thyroid Gland Mixed Medullary and Follicular Carcinoma False False False NCIT:C187993 Thyroid Gland Mixed Medullary and Papillary Carcinoma False False False NCIT:C187994 Thyroid Gland Secretory Carcinoma False False False @@ -6463,7 +6250,6 @@ NCIT:C188142 Developmental and Epileptic Encephalopathy 42 False False False NCIT:C188143 Loeys-Dietz Syndrome Type 5 False False False NCIT:C188145 Oocyte Maturation Defect-4 False False False NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly False False False -NCIT:C188150 Robertsonian Translocation Down Syndrome False False False NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities False False False NCIT:C188179 Refractory Neoplastic Post-Transplant Lymphoproliferative Disorder False False False NCIT:C188180 Recurrent Neoplastic Post-Transplant Lymphoproliferative Disorder False False False @@ -6479,8 +6265,6 @@ NCIT:C188208 Locally Advanced Uterine Corpus Leiomyosarcoma False False False NCIT:C188209 Unresectable Uterine Corpus Leiomyosarcoma False False False NCIT:C188213 Schwannoma of the Seventh Cranial Nerve False False False NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 False False False -NCIT:C188215 Ogden Syndrome False False False -NCIT:C188216 Cardiospondylocarpofacial Syndrome False False False NCIT:C188217 Pancreatic Mixed Ductal-Neuroendocrine Neoplasm False False False NCIT:C188218 Neuroendocrine Tumor False False False NCIT:C188221 Cervical Neuroendocrine Tumor False False False @@ -7523,9 +7307,7 @@ NCIT:C26814 Radiation-Related Leukemia False False False NCIT:C26829 Menorrhagia False False False NCIT:C26839 Bone Infection False False False NCIT:C26873 Infectious Lung Disorder False False False -NCIT:C26875 Retinal Disorder False False False NCIT:C26881 Solar Lentigo False False False -NCIT:C26882 Sialadenitis False False False NCIT:C26889 Sinus Tachycardia False False False NCIT:C26897 Bone Tuberculosis False False False NCIT:C26920 Encephalopathy False False False @@ -7600,7 +7382,6 @@ NCIT:C27157 Mouth Sore False False False NCIT:C27163 Arthritis or Polyarthritis due to Staphylococcus False False False NCIT:C27171 Systemic Lupus Erythematosus Rash False False False NCIT:C27175 Injection Site Thrombophlebitis False False False -NCIT:C27177 Palmar-Plantar Erythrodysthesia False False False NCIT:C27180 Radiation-Induced Fibrous Mediastinitis False False False NCIT:C27181 Placental Infarction False False False NCIT:C27185 Disseminated Adenocarcinoma False False False @@ -8049,8 +7830,6 @@ NCIT:C28621 Epithelial Proliferative Lesions of the Mouse Pulmonary System False NCIT:C28622 Airway Epithelial Hyperplasia of the Mouse Pulmonary System False False False NCIT:C28623 Alveoli Epithelial Hyperplasia of the Mouse Pulmonary System False False False NCIT:C28625 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia of the Mouse Pulmonary System False False False -NCIT:C2872 Refractory Anemia False False False -NCIT:C2874 Angiokeratoma False False False NCIT:C2875 Anorexia False False False NCIT:C2885 Ascites False False False NCIT:C2888 Atelectasis False False False @@ -8061,7 +7840,6 @@ NCIT:C29583 Epithelial Mesenchymal Transition Tumor of the Mouse Mammary Gland F NCIT:C2960 Condyloma Acuminatum False False False NCIT:C29627 Metaplasia of the Mouse Prostate Gland False False False NCIT:C29628 Well Differentiated Invasive Adenocarcinoma of the Mouse Prostate Gland False False False -NCIT:C2981 Delirium False False False NCIT:C30028 Mouse Ovarian Disorder False False False NCIT:C30029 Mouse Non-Neoplastic Ovarian Proliferative Disorder False False False NCIT:C30030 Mouse Ovarian Neoplasm False False False @@ -8150,9 +7928,7 @@ NCIT:C34384 Anemia due to Disorder of Glutathione Metabolism False False False NCIT:C34392 Aphakia False False False NCIT:C34395 Arthropod-Borne Hemorrhagic Fever False False False NCIT:C34404 Aseptic Necrosis of Head and Neck of Femur False False False -NCIT:C34428 Blastomycosis False False False NCIT:C34435 Chronic Encephalopathy False False False -NCIT:C3444 Granulomatosis with Polyangiitis False False False NCIT:C34454 Cellulitis of Hand False False False NCIT:C34457 Cutaneous Schistosomiasis False False False NCIT:C34462 Cardiomyopathy in Chagas' Disease False False False @@ -8166,7 +7942,6 @@ NCIT:C34519 Cystic Endometrial Hyperplasia False False False NCIT:C34523 Pre-Senile Dementia False False False NCIT:C34524 Senile Dementia False False False NCIT:C34533 Reactive Depression False False False -NCIT:C34557 Skin Pigmentation Disorder False False False NCIT:C34559 Dysmenorrhea False False False NCIT:C34567 Ectromelia False False False NCIT:C34570 Emaciation False False False @@ -8211,7 +7986,6 @@ NCIT:C34754 Kyphosis False False False NCIT:C34755 Acquired Kyphosis False False False NCIT:C34756 Acquired Postural Kyphosis False False False NCIT:C34759 Latent Schizophrenia False False False -NCIT:C34768 Cutaneous Leishmaniasis False False False NCIT:C34787 Lordosis False False False NCIT:C3479 Addiction False False False NCIT:C3480 Lobular Capillary Hemangioma False False False @@ -8269,7 +8043,6 @@ NCIT:C3506 Adrenal Cortical Hyperplasia False False False NCIT:C35061 Supraventricular Tachycardia False False False NCIT:C35063 Teething Syndrome False False False NCIT:C35067 Lateral Epicondylitis False False False -NCIT:C35071 Subacute Thyroiditis False False False NCIT:C35074 Tobacco Use Disorder False False False NCIT:C3509 Genital Leukoplakia False False False NCIT:C35090 Umbilical Hernia without Mention of Obstruction or Gangrene False False False @@ -8332,7 +8105,6 @@ NCIT:C35268 Macrocephaly False False False NCIT:C35269 Simple Type Schizophrenia False False False NCIT:C35270 Chronic Schizophrenia False False False NCIT:C35274 Perception Disturbance False False False -NCIT:C35279 Vein Disorder False False False NCIT:C35280 Focal Glomerulonephritis False False False NCIT:C35296 Nose Deformity False False False NCIT:C35298 Inferior Vena Cava Occlusion False False False @@ -8694,7 +8466,6 @@ NCIT:C3763 Pulmonary Adenomatosis False False False NCIT:C3764 Adenomatous Polyp False False False NCIT:C3765 Multicystic Mesothelioma False False False NCIT:C3779 Giant Cell Carcinoma False False False -NCIT:C3782 Cervical Intraepithelial Neoplasia False False False NCIT:C37871 Pityriasis Lichenoides et Varioliformis Acuta False False False NCIT:C37872 Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) False False False NCIT:C37874 Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) False False False @@ -8710,7 +8481,6 @@ NCIT:C38108 Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like D NCIT:C38109 Skin Basal Cell Carcinoma with Adnexal Differentiation False False False NCIT:C3812 Carcinoma of Unknown Primary False False False NCIT:C3813 Metastatic Malignant Neoplasm in the Brain False False False -NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges False False False NCIT:C38146 Chronic Allograft Arteriopathy False False False NCIT:C3815 Malignant Ascites False False False NCIT:C38154 Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres False False False @@ -9023,7 +8793,6 @@ NCIT:C4058 Ann Arbor Stage IIIB Hodgkin Lymphoma False False False NCIT:C4059 Ann Arbor Stage IVA Hodgkin Lymphoma False False False NCIT:C4070 Simple Lentigo False False False NCIT:C4074 Centroblastic Lymphoma False False False -NCIT:C4075 Morton Neuroma False False False NCIT:C40970 Angiocentric Immunoproliferative Lesion False False False NCIT:C4099 Small Cell Intermediate Cell Carcinoma False False False NCIT:C4113 Trichilemmoma False False False @@ -10524,6 +10293,7 @@ NCIT:C6254 Stage IIA Nasopharyngeal Keratinizing Squamous Cell Carcinoma False F NCIT:C6255 Stage IIB Nasopharyngeal Keratinizing Squamous Cell Carcinoma False False False NCIT:C6257 Ovarian Endometrioid Tumor False False False NCIT:C6258 Stage IIIA Ovarian Cancer AJCC v6 and v7 False False False +NCIT:C62580 Bronchiolitis Obliterans False False False NCIT:C6259 Stage IIIB Ovarian Cancer AJCC v6 and v7 False False False NCIT:C62592 Mood Alteration False False False NCIT:C6260 Stage IIIC Ovarian Cancer AJCC v6 and v7 False False False @@ -11205,8 +10975,6 @@ NCIT:C6718 Sternal Intraosseous Schwannoma False False False NCIT:C6721 Chest Wall Plexiform Fibrohistiocytic Tumor False False False NCIT:C67214 Peripheral Primitive Neuroectodermal Tumor of the Kidney False False False NCIT:C6723 Chest Wall Hodgkin Lymphoma False False False -NCIT:C6725 Lynch 1 Syndrome False False False -NCIT:C6726 Lynch 2 Syndrome False False False NCIT:C6731 Stage IIA Esophageal Adenocarcinoma AJCC v7 False False False NCIT:C6732 Stage IIB Esophageal Adenocarcinoma AJCC v7 False False False NCIT:C6733 Stage IVA Esophageal Adenocarcinoma False False False @@ -11375,7 +11143,6 @@ NCIT:C70588 Recurrent Adult Diffuse Small Cleaved Cell Lymphoma False False Fals NCIT:C70613 Drug/Toxin-Induced Aplastic Anemia False False False NCIT:C7062 Neoplasm by Special Category False False False NCIT:C70634 Destructive Arthritis False False False -NCIT:C70635 Necrotizing Vasculitis False False False NCIT:C70647 Sicca Syndrome False False False NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia False False False NCIT:C70658 ISS Stage I Plasma Cell Myeloma False False False @@ -11812,6 +11579,7 @@ NCIT:C78235 Cecal Infection False False False NCIT:C78239 Colonic Fistula False False False NCIT:C7824 Stage II Renal Cell Cancer AJCC v6 False False False NCIT:C78244 Colonic Ulcer False False False +NCIT:C78245 Cardiac Conduction Disorder False False False NCIT:C78248 Cranial Nerve Infection False False False NCIT:C7825 Recurrent Renal Cell Carcinoma False False False NCIT:C78250 Non-Infectious Cystitis False False False @@ -12001,7 +11769,6 @@ NCIT:C7958 Childhood Alveolar Rhabdomyosarcoma False False False NCIT:C79593 Extrapyramidal Disorder False False False NCIT:C79595 Gastric Fistula False False False NCIT:C7960 Childhood Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features False False False -NCIT:C79601 Otitis Externa False False False NCIT:C79606 Lactation Disorder False False False NCIT:C7961 Adult Acute Myeloid Leukemia with Maturation False False False NCIT:C7962 Adult Acute Myelomonocytic Leukemia False False False @@ -12435,7 +12202,6 @@ NCIT:C8497 Neurofibromatosis 1 and 2 (NF1 and NF2) False False False NCIT:C8500 Bilateral Carcinoma False False False NCIT:C85004 Peritoneal Panniculitis False False False NCIT:C8502 Chronic Lymphoblastic Lymphoma False False False -NCIT:C85020 Postural Orthostatic Tachycardia Syndrome False False False NCIT:C8504 Indolent Non-Hodgkin Lymphoma False False False NCIT:C85043 Refsum Disease False False False NCIT:C8505 Invasive Malignant Neoplasm False False False @@ -12456,7 +12222,6 @@ NCIT:C8518 Ann Arbor Stage II Hodgkin Lymphoma False False False NCIT:C8519 Ann Arbor Stage IV Hodgkin Lymphoma False False False NCIT:C85190 Thyroid Dysgenesis False False False NCIT:C85192 Togaviridae Infection False False False -NCIT:C85194 Toxocariasis False False False NCIT:C85195 Tracheobronchomalacia False False False NCIT:C8520 Ann Arbor Stage I Non-Hodgkin Lymphoma False False False NCIT:C85203 Trigger Finger Disorder False False False @@ -12465,7 +12230,6 @@ NCIT:C85210 XO Syndrome False False False NCIT:C85214 Niemann-Pick Disease, Type C False False False NCIT:C8522 Ann Arbor Stage III Non-Hodgkin Lymphoma False False False NCIT:C8523 Ann Arbor Stage IV Non-Hodgkin Lymphoma False False False -NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets False False False NCIT:C85236 XXXY and XXXXY Syndrome False False False NCIT:C8524 Locally Advanced Malignant Neoplasm False False False NCIT:C8527 Metastatic Malignant Neoplasm in the Sternum False False False @@ -12658,7 +12422,6 @@ NCIT:C87159 Stage IV Gestational Trophoblastic Tumor AJCC v7 False False False NCIT:C8716 Regional Malignant Ureter Neoplasm False False False NCIT:C87160 Stage IVA Gestational Trophoblastic Tumor AJCC v7 False False False NCIT:C87161 Stage IVB Gestational Trophoblastic Tumor AJCC v7 False False False -NCIT:C87168 Group B Streptococcal Infection False False False NCIT:C87178 Stage I Bone Cancer AJCC v7 False False False NCIT:C87179 Stage IA Bone Cancer AJCC v7 False False False NCIT:C87180 Stage IB Bone Cancer AJCC v7 False False False @@ -13046,7 +12809,6 @@ NCIT:C89328 Pediatric Disorder False False False NCIT:C8933 Metastatic Pancreatic Adenocarcinoma False False False NCIT:C89330 Developmental Disorder False False False NCIT:C89337 Congenital Musculoskeletal Defect False False False -NCIT:C89338 Neurodevelopmental Disorder False False False NCIT:C8934 Metastatic Small Intestinal Adenocarcinoma False False False NCIT:C89366 Stage IV Bladder Cancer AJCC v7 False False False NCIT:C8937 Ann Arbor Stage II B Lymphoblastic Lymphoma False False False @@ -13809,7 +13571,6 @@ NCIT:C97058 Mixed Congenital Mesoblastic Nephroma False False False NCIT:C97065 Periosteal Desmoid Tumor False False False NCIT:C97066 Acute Esophagitis False False False NCIT:C97067 Chronic Esophagitis False False False -NCIT:C97069 Extrahepatic Biliary Atresia False False False NCIT:C97070 Intrahepatic Biliary Atresia False False False NCIT:C97072 Ductal Plate Malformation False False False NCIT:C97076 Giant Cell Angioblastoma False False False @@ -13856,7 +13617,6 @@ NCIT:C98805 Acquired Methemoglobinemia False False False NCIT:C98806 Acquired Rickets False False False NCIT:C98814 Anophthalmos False False False NCIT:C98815 Antithrombin III Deficiency False False False -NCIT:C98824 Aprosencephaly False False False NCIT:C98826 Arterial Thrombosis False False False NCIT:C98827 Large Intestine Atresia False False False NCIT:C98829 Autosomal Dominant Disorder False False False @@ -13877,7 +13637,6 @@ NCIT:C98897 Thumb Hypoplasia False False False NCIT:C98899 Postural Scoliosis False False False NCIT:C98900 Sacral Myelocele False False False NCIT:C98908 Cryptophthalmos Syndrome False False False -NCIT:C98912 Diaphragmatic Eventration False False False NCIT:C98914 Discordant Ventriculoarterial Connection False False False NCIT:C98915 Duplex Kidney False False False NCIT:C98917 Duplicated Ureter False False False @@ -13914,7 +13673,6 @@ NCIT:C99017 Phrenic Nerve Palsy False False False NCIT:C99024 Premature Closure of Ductus Arteriosus False False False NCIT:C99030 Pulmonary Artery Stenosis False False False NCIT:C99031 Pulmonary Valve Atresia False False False -NCIT:C99035 Pulmonary Hypoplasia False False False NCIT:C99040 Recto-Vesico-Vaginal Fistula False False False NCIT:C99042 Renal Vein Thrombosis False False False NCIT:C99057 Severe Bronchopulmonary Dysplasia False False False @@ -13959,7 +13717,6 @@ NCIT:C99542 Common Ventricle Disorder False False False NCIT:C99545 Primary Valvular Disorder False False False NCIT:C99704 Arterial Dissection False False False NCIT:C99709 Significant Arterial Dissection False False False -NCIT:C99753 Disruptive Behavior Disorder False False False NCIT:C99897 Congenital Pulmonary Artery Stenosis False False False NCIT:C99938 Chronic Total Occlusion Vessel False False False NCIT:C99985 Mild Cardiac Valve Regurgitation False False False @@ -72999,7 +72756,6 @@ NCIT:C157154 Therapeutic Ionizing Radiation to Head History False True False NCIT:C157155 HIV Status False True False NCIT:C157156 IHC Staining not Done False True False NCIT:C157157 Indeterminate or Unknown False True False -NCIT:C157158 Tyrosine Hydroxylase Deficiency False True False NCIT:C157159 Ishak Score 1-2 False True False NCIT:C15716 Population Study False True False NCIT:C157160 1p/19q Codeletion Status False True False @@ -75806,7 +75562,6 @@ NCIT:C160148 Brass Mesh Bolus False True False NCIT:C16015 Nutrition, Vitamin A False True False NCIT:C160153 Specify Other Risk Factor False True False NCIT:C160154 Unknown New Tumor Event False True False -NCIT:C160155 Bladder Diverticulum False True False NCIT:C160156 Unknown Site of New Tumor Event False True False NCIT:C160157 CPTAC Responses False True False NCIT:C160159 Other Tumor Site False True False @@ -111993,7 +111748,6 @@ NCIT:C34788 Lower Back Pain False True False NCIT:C34791 Lymphocytosis False True False NCIT:C34796 Single Episode of Major Depressive Disorder False True False NCIT:C348 Environmental Carcinogen False True False -NCIT:C34802 Malignant Essential Hypertension False True False NCIT:C34808 Mass False True False NCIT:C34818 Metrorrhagia False True False NCIT:C34821 Mixed Hyperlipidemia False True False @@ -123275,7 +123029,6 @@ NCIT:C50456 Airway Obstruction False True False NCIT:C50457 Alteration Of Cognitive Function False True False NCIT:C50458 Ambulation Difficulty False True False NCIT:C50460 Anaphylactic Shock False True False -NCIT:C50462 Aortic Valve Stenosis False True False NCIT:C50463 Arm Or Hand Hypoesthesia False True False NCIT:C50464 Arthralgia False True False NCIT:C50465 Asphyxia False True False @@ -123432,7 +123185,6 @@ NCIT:C50650 Microperforation False True False NCIT:C50651 Migration False True False NCIT:C50652 Missed Abortion False True False NCIT:C50653 Mitral Perforation False True False -NCIT:C50654 Mitral Valve Stenosis False True False NCIT:C50656 Muscle Spasm False True False NCIT:C50657 Muscle Stimulation False True False NCIT:C50658 Muscle Weakness False True False @@ -123533,7 +123285,6 @@ NCIT:C50777 Tooth Fracture False True False NCIT:C50778 Tooth Sensitivity False True False NCIT:C50779 Torsades De Pointes by ECG Finding False True False NCIT:C50782 Traumatic Shock False True False -NCIT:C50783 Tricuspid Valve Stenosis False True False NCIT:C50785 Twitching False True False NCIT:C50786 Uncontrolled Delayed Intraocular Pressure False True False NCIT:C50787 Undesired Nerve Stimulation False True False @@ -147855,7 +147606,6 @@ NCIT:C78638 Thrombus in Catheter False True False NCIT:C78640 Toothache False True False NCIT:C78642 Tracheal Hemorrhage False True False NCIT:C78645 Tracheal Obstruction False True False -NCIT:C78646 Tracheal Stenosis False True False NCIT:C78648 Tracheostomy Site Bleeding False True False NCIT:C78651 Trismus False True False NCIT:C78652 Pediatric Quality of Life Inventory False True False @@ -148730,7 +148480,6 @@ NCIT:C79817 Azalanstat False True False NCIT:C79818 Benzmalecene False True False NCIT:C79819 Azacosterol False True False NCIT:C79820 Aluminum Clofibrate False True False -NCIT:C79821 Urethral Stricture False True False NCIT:C79822 Delmitide False True False NCIT:C79823 Delmitide Acetate False True False NCIT:C79824 Copper Cu 64-ATSM False True False @@ -153430,8 +153179,6 @@ NCIT:C85166 Festuca pratensis Pollen False True False NCIT:C85167 Fraxinus americana Pollen False True False NCIT:C85168 Fraxinus latifolia Pollen False True False NCIT:C85169 Fraxinus pennsylvanica Pollen False True False -NCIT:C85172 Subvalvular Aortic Stenosis False True False -NCIT:C85176 Supravalvular Aortic Stenosis False True False NCIT:C85189 Thyroglossal Duct Cyst False True False NCIT:C852 Superoxide False True False NCIT:C85200 Acacia dealbata Pollen False True False @@ -167885,6 +167632,7 @@ NCIT:C126327 Usher Syndrome Type 1 True False False NCIT:C126328 Usher Syndrome Type 2 True False False NCIT:C126329 Usher Syndrome Type 3 True False False NCIT:C126330 X-Linked Dystonia Parkinsonism True False False +NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia True False False NCIT:C126341 CTLA4 Deficiency True False False NCIT:C126342 STAT3 Deficiency True False False NCIT:C126343 DOCK8 Deficiency True False False @@ -167947,6 +167695,7 @@ NCIT:C128080 Vaginal Rhabdomyosarcoma True False False NCIT:C128114 Hypercholesterolemia, Familial, 4 True False False NCIT:C128115 Marshall Syndrome True False False NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B True False False +NCIT:C128117 Primary Ciliary Dyskinesia 1 True False False NCIT:C128118 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 True False False NCIT:C128119 Fructose-1,6-Bisphosphatase Deficiency True False False NCIT:C128120 Canine Leukemia True False False @@ -167956,6 +167705,7 @@ NCIT:C128125 Canine Histiocytic Sarcoma True False False NCIT:C128126 Canine Transitional Cell Carcinoma True False False NCIT:C128145 Pierson Syndrome True False False NCIT:C128187 2-Hydroxyglutaric Aciduria True False False +NCIT:C128188 46,XY Sex Reversal 1 True False False NCIT:C128190 Congenital Sucrase-Isomaltase Deficiency True False False NCIT:C128191 Lymphedema-Distichiasis Syndrome True False False NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 True False False @@ -167980,6 +167730,7 @@ NCIT:C128359 Bacterial Endocarditis True False False NCIT:C128360 Lymphatic Filariasis True False False NCIT:C128368 Mastoiditis True False False NCIT:C128369 Labyrinthitis True False False +NCIT:C128370 Fungal Keratitis True False False NCIT:C128371 Late Latent Syphilis True False False NCIT:C128373 Cerebral Malaria True False False NCIT:C128374 Eosinophilic Meningitis True False False @@ -168014,6 +167765,7 @@ NCIT:C128412 Primary Syphilis True False False NCIT:C128413 Secondary Syphilis True False False NCIT:C128414 Tertiary Syphilis True False False NCIT:C128415 Multidrug-Resistant Tuberculosis True False False +NCIT:C128417 Extensively Drug-Resistant Tuberculosis True False False NCIT:C128418 Lassa Fever True False False NCIT:C128419 Rift Valley Fever True False False NCIT:C128420 Roseola Infantum True False False @@ -168076,9 +167828,11 @@ NCIT:C129724 Acute Suppurative Thyroiditis True False False NCIT:C129726 Autoimmune Polyglandular Syndrome True False False NCIT:C129727 Autoimmune Polyglandular Syndrome Type 1 True False False NCIT:C129728 Autoimmune Polyglandular Syndrome Type 2 True False False +NCIT:C129732 Autosomal Dominant Osteopetrosis True False False NCIT:C129733 Autosomal Recessive Osteopetrosis True False False NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia True False False NCIT:C129735 Dipsogenic Diabetes Insipidus True False False +NCIT:C129739 Monogenic Diabetes True False False NCIT:C129741 Glucokinase-Associated Diabetes Mellitus True False False NCIT:C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes True False False NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes True False False @@ -168166,7 +167920,10 @@ NCIT:C131504 Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A True F NCIT:C131506 Childhood Melanoma True False False NCIT:C131533 Bohring-Opitz Syndrome True False False NCIT:C131622 Acquired Factor II Deficiency True False False +NCIT:C131624 Acquired Factor V Deficiency True False False +NCIT:C131625 Acquired Factor VII Deficiency True False False NCIT:C131626 Acquired Factor X Deficiency True False False +NCIT:C131627 Acquired Factor XI Deficiency True False False NCIT:C131629 Acquired Factor XIII Deficiency True False False NCIT:C131630 Anemia due to Erythrocyte Enzyme Disorder True False False NCIT:C131631 Factor VII Deficiency True False False @@ -168277,6 +168034,8 @@ NCIT:C135087 Schimke Immunoosseous Dysplasia True False False NCIT:C135088 Spondyloperipheral Dysplasia True False False NCIT:C135090 Jejunal Neuroendocrine Tumor True False False NCIT:C135092 Ileal Neuroendocrine Tumor True False False +NCIT:C135176 Nuclear Cataract True False False +NCIT:C135177 Cortical Cataract True False False NCIT:C135212 Colon Neuroendocrine Tumor True False False NCIT:C135213 Rectal Neuroendocrine Tumor True False False NCIT:C135724 Feline Large Granular Lymphocyte Lymphoma True False False @@ -168346,6 +168105,7 @@ NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency T NCIT:C148367 Bilateral Frontoparietal Polymicrogyria True False False NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 True False False NCIT:C148369 Muscular Dystrophy Congenital, LMNA-Related True False False +NCIT:C148370 Primary Ciliary Dyskinesia 14 True False False NCIT:C148371 Temtamy Syndrome True False False NCIT:C148461 Lissencephaly 3 True False False NCIT:C150250 Spinocerebellar Ataxia Type 16 True False False @@ -168358,10 +168118,12 @@ NCIT:C150556 Autosomal Recessive Osteopetrosis 8 True False False NCIT:C150601 Citrullinemia Type I True False False NCIT:C150603 Citrullinemia Type II True False False NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia True False False +NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 True False False NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A True False False NCIT:C150647 Charcot-Marie-Tooth Disease Type 2A2B True False False NCIT:C151898 Acute Myeloid Leukemia with Germline CEBPA Mutation True False False NCIT:C152064 Revesz Syndrome True False False +NCIT:C152065 Telomere Syndrome True False False NCIT:C153174 Usher Syndrome Type 2C True False False NCIT:C153178 Nijmegen Breakage Syndrome-Like Disorder True False False NCIT:C153179 Mental Retardation, Autosomal Recessive 34 True False False @@ -168369,6 +168131,9 @@ NCIT:C153289 Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented NCIT:C153290 Rubinstein-Taybi Syndrome Type 1 True False False NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 True False False NCIT:C154316 Spinocerebellar Ataxia Type 12 True False False +NCIT:C155747 Peroxisome Biogenesis Disorder True False False +NCIT:C155749 Peroxisome Biogenesis Disorder 1B True False False +NCIT:C155751 Peroxisome Biogenesis Disorder 2B True False False NCIT:C155752 Peroxisome Biogenesis Disorder 3A True False False NCIT:C155754 Peroxisome Biogenesis Disorder 4A True False False NCIT:C155755 Peroxisome Biogenesis Disorder 4B True False False @@ -168376,57 +168141,255 @@ NCIT:C155756 Peroxisome Biogenesis Disorder 5A True False False NCIT:C155757 Peroxisome Biogenesis Disorder 5B True False False NCIT:C155758 Peroxisome Biogenesis Disorder 6A True False False NCIT:C155759 Peroxisome Biogenesis Disorder 6B True False False +NCIT:C155761 Peroxisome Biogenesis Disorder 7B True False False +NCIT:C155763 Peroxisome Biogenesis Disorder 8B True False False NCIT:C155954 Intestinal Polyposis Syndrome True False False +NCIT:C155999 Primary Ciliary Dyskinesia 15 True False False +NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex True False False +NCIT:C156311 Diastrophic Dysplasia True False False +NCIT:C156361 Torsion Dystonia 6 True False False NCIT:C156362 Feline Melanoma True False False +NCIT:C156424 Hereditary Folate Malabsorption True False False NCIT:C156430 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 True False False +NCIT:C156433 Trichothiodystrophy 1, Photosensitive True False False +NCIT:C156757 Parathyroid Gland Adenoma True False False NCIT:C156767 Basal Cell Carcinoma True False False NCIT:C157056 Hormone Receptor-Positive Breast Carcinoma True False False +NCIT:C157124 Phelan-McDermid Syndrome True False False +NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related True False False +NCIT:C157266 Left Ventricular Noncompaction 7 True False False NCIT:C157268 Relapsing Polychondritis True False False NCIT:C157449 Multiple Endocrine Neoplasia Type 4 True False False NCIT:C157503 Feline Histiocytic Sarcoma True False False +NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency True False False +NCIT:C157577 Dystonia 12 True False False +NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma True False False +NCIT:C157733 Laryngeal Papillomatosis True False False NCIT:C157781 Acute Hepatitis B Infection True False False NCIT:C157782 Acute Hepatitis C Infection True False False +NCIT:C157812 Cholera True False False +NCIT:C157958 Pneumococcal Meningitis True False False +NCIT:C157974 Salmonellosis True False False +NCIT:C157978 Shigellosis True False False +NCIT:C158135 Infantile Liver Failure Syndrome 2 True False False NCIT:C158329 Cervical Rib True False False NCIT:C158783 Canine Gastrointestinal Stromal Tumor True False False NCIT:C158784 Canine Granular Cell Tumor True False False NCIT:C158785 Canine Langerhans Cell Histiocytosis True False False NCIT:C158786 Canine Nephroblastoma True False False +NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss True False False +NCIT:C158962 AH Amyloidosis True False False +NCIT:C158963 AL Amyloidosis True False False +NCIT:C158965 Light and Heavy Chain Deposition Disease True False False +NCIT:C158968 Immunotactoid Glomerulopathy True False False +NCIT:C159653 Joubert Syndrome 7 True False False NCIT:C161005 Familial Focal Epilepsy with Variable Foci 1 True False False NCIT:C161006 Canine Thyroid Gland Medullary Carcinoma True False False +NCIT:C161554 Persistent Hyperplastic Primary Vitreous True False False +NCIT:C162399 Cone-Rod Dystrophy 2 True False False NCIT:C162472 Developmental and Epileptic Encephalopathy 4 True False False NCIT:C162473 Canine Transmissible Venereal Tumor True False False NCIT:C162484 Polymerase Proofreading Associated Polyposis True False False NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia True False False NCIT:C162775 Acute Myeloid Leukemia with Trisomy 8 True False False NCIT:C163755 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly True False False +NCIT:C163756 Spinocerebellar Ataxia Type 19/22 True False False +NCIT:C164162 Chemotherapy-Induced Alopecia True False False NCIT:C164224 Spastic Paraplegia 47 True False False +NCIT:C164225 Nemaline Myopathy 4 True False False NCIT:C164226 Achromatopsia 5 True False False +NCIT:C164315 Interstitial Lung Disease True False False +NCIT:C164675 Warsaw Breakage Syndrome True False False +NCIT:C164676 Inflammatory Bowel Disease 28 True False False NCIT:C165469 Colorectal Serrated Polyposis True False False +NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 True False False +NCIT:C165501 Aicardi-Goutieres Syndrome 1 True False False +NCIT:C165533 Renpenning Syndrome True False False +NCIT:C165614 Bone Marrow Failure Syndrome True False False +NCIT:C165673 Aicardi-Goutieres Syndrome 2 True False False +NCIT:C165675 Relapsing-Remitting Multiple Sclerosis True False False +NCIT:C166152 Severe Congenital Neutropenia True False False +NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia True False False +NCIT:C167215 Autosomal Recessive Osteopetrosis 1 True False False +NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma True False False +NCIT:C168445 Sydenham Chorea True False False NCIT:C168519 HER2-Negative Breast Carcinoma True False False NCIT:C168564 Aicardi-Goutieres Syndrome 5 True False False +NCIT:C168585 Aicardi-Goutieres Syndrome 7 True False False +NCIT:C168588 Senior-Loken Syndrome True False False +NCIT:C168729 Dystonia 16 True False False NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked True False False +NCIT:C168731 Oculocutaneous Albinism Type 1A True False False +NCIT:C168733 Stickler Syndrome Type 1 True False False NCIT:C168755 Amyotrophic Lateral Sclerosis 21 True False False +NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 True False False +NCIT:C168757 Achromatopsia 2 True False False +NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y True False False NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 True False False +NCIT:C168988 Sertoli Cell-Only Syndrome True False False +NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 True False False +NCIT:C168990 Bartsocas-Papas Syndrome True False False +NCIT:C168997 Congenital Myasthenic Syndrome 12 True False False NCIT:C169001 Ring Chromosome 20 Syndrome True False False NCIT:C170436 Dilated Cardiomyopathy-1C True False False +NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency True False False +NCIT:C170731 Winchester Syndrome True False False +NCIT:C170814 Primary Brain Neoplasm True False False +NCIT:C171031 Thymic Neuroendocrine Carcinoma True False False +NCIT:C171147 Nocardiosis True False False +NCIT:C171201 Salpingo-Oophoritis True False False NCIT:C171269 Spinocerebellar Ataxia Type 42 True False False NCIT:C171299 Indolent B-Cell Non-Hodgkin Lymphoma True False False +NCIT:C171602 Peripartum Cardiomyopathy True False False NCIT:C171603 Leukoencephalopathy with Ataxia True False False +NCIT:C172094 Long QT Syndrome 5 True False False +NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 True False False NCIT:C172127 Multisystem Inflammatory Syndrome in Children True False False +NCIT:C172207 Rapidly Involuting Congenital Hemangioma True False False +NCIT:C172208 Non-Involuting Congenital Hemangioma True False False +NCIT:C172209 Partially Involuting Congenital Hemangioma True False False +NCIT:C172316 Fruit Allergy True False False +NCIT:C172320 Shellfish Allergy True False False +NCIT:C172392 Primary Ciliary Dyskinesia 3 True False False +NCIT:C172393 Primary Ciliary Dyskinesia 29 True False False +NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 True False False NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 True False False NCIT:C172823 Delta-Beta Thalassemia True False False +NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach True False False +NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 True False False +NCIT:C173099 Trichothiodystrophy 3, Photosensitive True False False +NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive True False False +NCIT:C173103 Trichothiodystrophy 2, Photosensitive True False False NCIT:C173104 Cerebrooculofacioskeletal Syndrome 4 True False False +NCIT:C173106 UV-Sensitive Syndrome 1 True False False +NCIT:C173107 UV-Sensitive Syndrome 3 True False False +NCIT:C173110 UV-Sensitive Syndrome 2 True False False +NCIT:C173111 XFE Progeroid Syndrome True False False +NCIT:C173131 Dyschromatosis Universalis Hereditaria True False False +NCIT:C173146 3-Methylglutaconic Aciduria Type 5 True False False NCIT:C173624 Horse Transitional Cell Carcinoma True False False +NCIT:C173626 Karyomegalic Interstitial Nephritis True False False +NCIT:C173793 Tongue Disorder True False False +NCIT:C173795 Gingival Disorder True False False +NCIT:C173820 Ossifying Fibroma True False False +NCIT:C174113 Cryptococcal Meningitis True False False NCIT:C174129 Acute Myeloid Leukemia with MLL Rearrangement True False False +NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome True False False +NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency True False False +NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 True False False +NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium True False False NCIT:C17466 Rous Sarcoma True False False +NCIT:C175048 Exudative Vitreoretinopathy 1 True False False +NCIT:C175208 Familial Digital Arthropathy-Brachydactyly True False False +NCIT:C175209 Metatropic Dysplasia True False False +NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 True False False +NCIT:C175241 Floating-Harbor Syndrome True False False +NCIT:C175702 Joubert Syndrome 17 True False False +NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 True False False +NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 True False False +NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 True False False +NCIT:C176617 Thrombocytopenia 1 True False False +NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 True False False +NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia True False False +NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis True False False NCIT:C176701 Canine Sebaceous Gland Epithelioma True False False NCIT:C176702 Feline Progressive Histiocytosis True False False +NCIT:C176806 Immunodeficiency 27A True False False +NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency True False False +NCIT:C176820 Wiskott-Aldrich Syndrome 2 True False False +NCIT:C176823 MHC Class II Deficiency True False False +NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 True False False +NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 True False False +NCIT:C176901 Spinocerebellar Ataxia Type 31 True False False +NCIT:C176903 Rett Syndrome, Congenital Variant True False False +NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome True False False +NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 True False False +NCIT:C176909 Ataxia-Pancytopenia Syndrome True False False +NCIT:C176911 Diamond-Blackfan Anemia 1 True False False +NCIT:C176912 Diamond-Blackfan Anemia 3 True False False +NCIT:C176913 Diamond-Blackfan Anemia 4 True False False +NCIT:C176914 Diamond-Blackfan Anemia 5 True False False +NCIT:C176915 Diamond-Blackfan Anemia 6 True False False +NCIT:C176916 Diamond-Blackfan Anemia 7 True False False +NCIT:C176917 Diamond-Blackfan Anemia 8 True False False +NCIT:C176918 Diamond-Blackfan Anemia 9 True False False +NCIT:C176919 Diamond-Blackfan Anemia 10 True False False +NCIT:C176920 Diamond-Blackfan Anemia 11 True False False +NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 True False False +NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 True False False +NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 True False False +NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 True False False +NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 True False False +NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 True False False +NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 True False False +NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 True False False +NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 True False False +NCIT:C176930 Noonan Syndrome 2 True False False +NCIT:C176931 Noonan Syndrome 3 True False False +NCIT:C176932 Noonan Syndrome 4 True False False +NCIT:C176933 Noonan Syndrome 5 True False False +NCIT:C176934 Noonan Syndrome 6 True False False +NCIT:C176935 Noonan Syndrome 7 True False False +NCIT:C176936 Noonan Syndrome 8 True False False +NCIT:C176937 Noonan Syndrome 9 True False False +NCIT:C176938 Noonan Syndrome 10 True False False +NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 True False False +NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 True False False +NCIT:C176941 Legius Syndrome True False False +NCIT:C177119 Noonan Syndrome 11 True False False +NCIT:C177120 Noonan Syndrome 12 True False False +NCIT:C177121 Noonan Syndrome 13 True False False +NCIT:C177244 Temporal Lobe Epilepsy True False False +NCIT:C177251 Behr Syndrome True False False +NCIT:C177444 Spinal Stenosis True False False +NCIT:C177445 Lumbar Spinal Stenosis True False False +NCIT:C177534 Long QT Syndrome 14 True False False +NCIT:C177535 Poikiloderma with Neutropenia True False False +NCIT:C177544 Xq25 Microduplication Syndrome True False False +NCIT:C177779 Hemimegalencephaly True False False +NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair True False False NCIT:C178232 Congenital/Infantile Spindle Cell Rhabdomyosarcoma with VGLL2/NCOA2/CITED2 Rearrangements True False False NCIT:C178236 Intraosseous Spindle Cell Rhabdomyosarcoma with TFCP2/NCOA2 Rearrangements True False False +NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 True False False +NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 True False False +NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis True False False +NCIT:C178441 Ovarian Melanoma True False False +NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma True False False +NCIT:C178826 Rothmund-Thomson Syndrome Type 1 True False False +NCIT:C178827 Rothmund-Thomson Syndrome Type 2 True False False +NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy True False False +NCIT:C179648 Multiple Organ Dysfunction Syndrome True False False NCIT:C179667 RASopathy True False False +NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome True False False +NCIT:C179861 Spinocerebellar Ataxia Type 17 True False False +NCIT:C179867 46,XX Sex Reversal 1 True False False +NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay True False False +NCIT:C179915 PTEN Hamartoma Tumor Syndrome True False False +NCIT:C179930 Proteus-Like Syndrome True False False +NCIT:C180557 Apraxia True False False +NCIT:C180915 Vaginal Squamous Cell Carcinoma True False False +NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y True False False +NCIT:C181002 Joubert Syndrome 9 True False False +NCIT:C181158 Jejunal Adenocarcinoma True False False +NCIT:C181652 Monoclonal Mast Cell Activation Syndrome True False False NCIT:C181658 Feline Synovial Cell Sarcoma True False False +NCIT:C181924 VEXAS Syndrome True False False +NCIT:C182452 Dysgraphia True False False +NCIT:C183312 Moyamoya Disease 2 True False False +NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 True False False +NCIT:C183562 Actinic Cheilitis True False False +NCIT:C184324 Recurrent Acute Pancreatitis True False False +NCIT:C185242 Otosclerosis True False False +NCIT:C185243 Meniere Disease True False False +NCIT:C185635 49,XXXXY Syndrome True False False NCIT:C185639 Canine Oral Melanoma True False False NCIT:C186279 Canine Cutaneous T-Cell Lymphoma True False False +NCIT:C186306 Keipert Syndrome True False False +NCIT:C187288 Pigment Dispersion Syndrome True False False +NCIT:C187989 Meester-Loeys Syndrome True False False +NCIT:C188150 Robertsonian Translocation Down Syndrome True False False +NCIT:C188215 Ogden Syndrome True False False +NCIT:C188216 Cardiospondylocarpofacial Syndrome True False False NCIT:C25765 Secondary Acute Myeloid Leukemia True False False NCIT:C26323 Hematologic and Lymphocytic Disorder True False False NCIT:C26684 Radiation-Induced Disorder True False False @@ -168565,10 +168528,12 @@ NCIT:C26870 Thrombocytopenic Purpura True False False NCIT:C26871 Respiratory System Disorder True False False NCIT:C26872 Respiratory Failure True False False NCIT:C26874 Retinal Detachment True False False +NCIT:C26875 Retinal Disorder True False False NCIT:C26876 Retroperitoneal Fibrosis True False False NCIT:C26878 Rickets True False False NCIT:C26879 Salivary Gland Disorder True False False NCIT:C26880 Salpingitis True False False +NCIT:C26882 Sialadenitis True False False NCIT:C26883 Sjogren Syndrome True False False NCIT:C26885 Testicular Torsion True False False NCIT:C26886 Stomach Disorder True False False @@ -168706,6 +168671,7 @@ NCIT:C27167 Primary Biliary Cirrhosis True False False NCIT:C27168 Obstructive Sleep Apnea Syndrome True False False NCIT:C27169 Central Sleep Apnea Syndrome True False False NCIT:C27174 Stress Polycythemia True False False +NCIT:C27177 Palmar-Plantar Erythrodysthesia True False False NCIT:C27178 Secondary Polycythemia True False False NCIT:C27179 Juvenile Rheumatoid Arthritis True False False NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma True False False @@ -168983,6 +168949,8 @@ NCIT:C2868 Amyloidosis True False False NCIT:C2869 Anemia True False False NCIT:C2870 Aplastic Anemia True False False NCIT:C2871 Pernicious Anemia True False False +NCIT:C2872 Refractory Anemia True False False +NCIT:C2874 Angiokeratoma True False False NCIT:C2877 Anal Neoplasm True False False NCIT:C2878 Anxiety Disorder True False False NCIT:C2880 Ovarian Sertoli-Leydig Cell Tumor True False False @@ -169066,6 +169034,7 @@ NCIT:C2974 Papillary Cystadenoma True False False NCIT:C2975 Cystic Fibrosis True False False NCIT:C2976 Cystinosis True False False NCIT:C2977 Phyllodes Tumor True False False +NCIT:C2981 Delirium True False False NCIT:C2982 Depression True False False NCIT:C2983 Dermatitis True False False NCIT:C2984 Dermatosis Papulosa Nigra True False False @@ -169441,6 +169410,7 @@ NCIT:C34423 Bipolar Disorder True False False NCIT:C34424 Bipolar Depression True False False NCIT:C34425 Bird Fancier's Lung True False False NCIT:C34426 Blackwater Fever True False False +NCIT:C34428 Blastomycosis True False False NCIT:C34429 North American Blastomycosis True False False NCIT:C3443 Vulvar Neoplasm True False False NCIT:C34430 Blepharoconjunctivitis True False False @@ -169450,6 +169420,7 @@ NCIT:C34433 Bone Marrow Disorder True False False NCIT:C34434 Bonnevie-Ullrich Syndrome True False False NCIT:C34436 Retinal Arterial Branch Occlusion True False False NCIT:C34439 Bronchospasm True False False +NCIT:C3444 Granulomatosis with Polyangiitis True False False NCIT:C34440 Bulimia Nervosa True False False NCIT:C34444 Chronic Mucocutaneous Candidiasis True False False NCIT:C34445 Cannabis Dependence True False False @@ -169523,6 +169494,7 @@ NCIT:C34545 Faucial Diphtheria True False False NCIT:C34546 Laryngeal Diphtheria True False False NCIT:C34547 Nasopharyngeal Diphtheria True False False NCIT:C34553 Dry Eye Syndrome True False False +NCIT:C34557 Skin Pigmentation Disorder True False False NCIT:C34558 Amebic Colitis True False False NCIT:C3456 Inclusion Body Fibromatosis True False False NCIT:C34560 Dysostosis True False False @@ -169634,6 +169606,7 @@ NCIT:C3476 Li-Fraumeni Syndrome True False False NCIT:C34760 Laurence-Moon Syndrome True False False NCIT:C34766 Perthes Disease True False False NCIT:C34767 Leishmaniasis True False False +NCIT:C34768 Cutaneous Leishmaniasis True False False NCIT:C34769 American Cutaneous Leishmaniasis True False False NCIT:C3477 Bacillary Angiomatosis True False False NCIT:C34770 Asian Desert Cutaneous Leishmaniasis True False False @@ -169826,6 +169799,7 @@ NCIT:C35068 Tetanic Cataract True False False NCIT:C35069 Thalassemia True False False NCIT:C3507 Immune System Disorder True False False NCIT:C35070 Buerger Disease True False False +NCIT:C35071 Subacute Thyroiditis True False False NCIT:C35072 Favus True False False NCIT:C35073 Deep Seated Dermatophytosis True False False NCIT:C35075 Hairy Tongue True False False @@ -169913,6 +169887,7 @@ NCIT:C35273 Animal Phobia True False False NCIT:C35275 Visual Cortex Disorder True False False NCIT:C35276 Visual Agnosia True False False NCIT:C35277 Acneiform Dermatitis True False False +NCIT:C35279 Vein Disorder True False False NCIT:C3528 Malignant Hard Palate Neoplasm True False False NCIT:C35281 Proliferative Glomerulonephritis True False False NCIT:C35284 Specific Phobia True False False @@ -170309,6 +170284,7 @@ NCIT:C3777 Papillary Cystadenocarcinoma True False False NCIT:C3778 Serous Cystadenocarcinoma True False False NCIT:C3780 Large Cell Carcinoma True False False NCIT:C3781 Verrucous Carcinoma True False False +NCIT:C3782 Cervical Intraepithelial Neoplasia True False False NCIT:C3783 Serous Cystadenoma True False False NCIT:C3784 Basal Cell Neoplasm True False False NCIT:C3785 Intraductal Papilloma True False False @@ -170344,6 +170320,7 @@ NCIT:C3810 Connective and Soft Tissue Neoplasm True False False NCIT:C3811 Malignant Salivary Gland Neoplasm True False False NCIT:C38110 Skin Signet Ring Cell Basal Cell Carcinoma True False False NCIT:C38111 Skin Basal Cell Carcinoma with Sarcomatoid Differentiation True False False +NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges True False False NCIT:C38145 Chronic Allograft Nephropathy True False False NCIT:C38150 PEComa True False False NCIT:C38151 Epithelioid Angiomyolipoma True False False @@ -170820,6 +170797,7 @@ NCIT:C4068 Trabecular Adenocarcinoma True False False NCIT:C4071 Xanthoma True False False NCIT:C4072 Mesonephric Adenocarcinoma True False False NCIT:C4073 Meningeal Sarcoma True False False +NCIT:C4075 Morton Neuroma True False False NCIT:C4076 Isosporiasis True False False NCIT:C4083 Hyperplastic Polyp True False False NCIT:C4087 Warty Dyskeratoma True False False @@ -172145,7 +172123,6 @@ NCIT:C62546 Canker Sore True False False NCIT:C6256 Ovarian Serous Surface Papillary Adenocarcinoma True False False NCIT:C62571 Bowen Disease of the Skin True False False NCIT:C62578 Capillary Leak Syndrome True False False -NCIT:C62580 Bronchiolitis Obliterans True False False NCIT:C62586 Cryptogenic Organizing Pneumonia True False False NCIT:C62590 Idiopathic Pneumonia Syndrome True False False NCIT:C62591 Hypopituitarism True False False @@ -172362,6 +172339,8 @@ NCIT:C6720 Chest Wall Parachordoma True False False NCIT:C67235 Oncogenic Osteomalacia True False False NCIT:C67237 Phosphaturic Mesenchymal Tumor True False False NCIT:C6724 Malignant Chest Wall Bone Neoplasm True False False +NCIT:C6725 Lynch 1 Syndrome True False False +NCIT:C6726 Lynch 2 Syndrome True False False NCIT:C6727 Neurofibromatosis True False False NCIT:C67277 Giant Hypertrophic Gastritis True False False NCIT:C6728 Gardner Syndrome True False False @@ -172539,6 +172518,7 @@ NCIT:C7058 Melanocytic Neoplasm True False False NCIT:C7059 Mesenchymal Cell Neoplasm True False False NCIT:C7061 Retinal Cell Neoplasm True False False NCIT:C7063 Notochordal Tumor True False False +NCIT:C70635 Necrotizing Vasculitis True False False NCIT:C7064 Erythroid Neoplasm True False False NCIT:C70646 CREST Syndrome True False False NCIT:C7065 Lymphocytic Neoplasm True False False @@ -172864,7 +172844,6 @@ NCIT:C7811 Adult Liposarcoma True False False NCIT:C7812 Solitary Plasmacytoma of Bone True False False NCIT:C7813 Refractory Plasma Cell Neoplasm True False False NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor True False False -NCIT:C78245 Cardiac Conduction Disorder True False False NCIT:C78246 Constrictive Pericarditis True False False NCIT:C78251 Cytokine Release Syndrome True False False NCIT:C78265 Infective Endocarditis True False False @@ -172915,6 +172894,7 @@ NCIT:C79573 Enterocolitis True False False NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma True False False NCIT:C79596 Hepatic Encephalopathy True False False NCIT:C79598 Infectious Meningitis True False False +NCIT:C79601 Otitis Externa True False False NCIT:C7966 Colon Mucinous Adenocarcinoma True False False NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma True False False NCIT:C79698 Optic Nerve Disorder True False False @@ -173451,6 +173431,7 @@ NCIT:C85016 Plummer-Vinson Syndrome True False False NCIT:C85017 Poland Syndrome True False False NCIT:C85018 Polymyalgia Rheumatica True False False NCIT:C85019 Porokeratosis True False False +NCIT:C85020 Postural Orthostatic Tachycardia Syndrome True False False NCIT:C85021 Preeclampsia True False False NCIT:C85023 Primary Hypertrophic Osteoarthropathy True False False NCIT:C85024 Primary Progressive Aphasia True False False @@ -173514,6 +173495,7 @@ NCIT:C85187 Thanatophoric Dysplasia True False False NCIT:C85188 Thoracic Outlet Syndrome True False False NCIT:C85191 Thyroid Hormone Resistance Syndrome True False False NCIT:C85193 Tolosa-Hunt Syndrome True False False +NCIT:C85194 Toxocariasis True False False NCIT:C85196 Tracheobronchomegaly True False False NCIT:C85197 Treponemal Infection True False False NCIT:C85198 Transient Global Amnesia True False False @@ -173538,6 +173520,7 @@ NCIT:C85228 Whipple Disease True False False NCIT:C85231 Whooping Cough True False False NCIT:C85232 Williams Syndrome True False False NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 True False False +NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets True False False NCIT:C85237 47,XYY Syndrome True False False NCIT:C85238 Yellow Nail Syndrome True False False NCIT:C85239 Zellweger Syndrome True False False @@ -173593,6 +173576,7 @@ NCIT:C8713 Bilateral Retinoblastoma True False False NCIT:C8714 Unilateral Retinoblastoma True False False NCIT:C8715 Rhabdoid Tumor of the Kidney True False False NCIT:C87167 Eclampsia True False False +NCIT:C87168 Group B Streptococcal Infection True False False NCIT:C8717 Mucin-Rich Endometrial Endometrioid Adenocarcinoma True False False NCIT:C87175 Cleft Lip True False False NCIT:C8719 Endometrial Squamous Cell Carcinoma True False False @@ -173615,6 +173599,7 @@ NCIT:C8925 Metastatic Melanoma True False False NCIT:C89329 Conduct Disorder True False False NCIT:C89332 Eating Disorder True False False NCIT:C89334 Learning Disorder True False False +NCIT:C89338 Neurodevelopmental Disorder True False False NCIT:C8936 B Lymphoblastic Leukemia/Lymphoma True False False NCIT:C8946 Metastatic Prostate Carcinoma True False False NCIT:C8955 Rete Testis Adenocarcinoma True False False @@ -173969,6 +173954,7 @@ NCIT:C97041 Clear Cell Acanthoma True False False NCIT:C97045 Metabolic Bone Disorder True False False NCIT:C97055 Giant Cell Myocarditis True False False NCIT:C97062 Laryngocele True False False +NCIT:C97069 Extrahepatic Biliary Atresia True False False NCIT:C97071 Congenital Hepatic Fibrosis True False False NCIT:C97073 Hereditary Neurodegenerative Disorder True False False NCIT:C97074 Hereditary Spherocytosis True False False @@ -174029,6 +174015,7 @@ NCIT:C98809 Alveolar Capillary Dysplasia True False False NCIT:C98813 Annular Pancreas True False False NCIT:C98818 Aortic Valve Atresia True False False NCIT:C98822 Aplasia Cutis Congenita True False False +NCIT:C98824 Aprosencephaly True False False NCIT:C98828 Small Intestine Atresia True False False NCIT:C98841 Alpha-Methylacetoacetic Aciduria True False False NCIT:C98842 Holocarboxylase Synthetase Deficiency True False False @@ -174053,6 +174040,7 @@ NCIT:C98905 Corpus Callosum Agenesis True False False NCIT:C98906 Fetal Warfarin Syndrome True False False NCIT:C98907 Craniorachischisis True False False NCIT:C98910 Cytochrome-C Oxidase Deficiency True False False +NCIT:C98912 Diaphragmatic Eventration True False False NCIT:C98913 Diastematomyelia True False False NCIT:C98916 Double Outlet Right Ventricle True False False NCIT:C98920 Encephalomalacia True False False @@ -174113,6 +174101,7 @@ NCIT:C99029 Pulmonary Arteriovenous Fistula True False False NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum True False False NCIT:C99033 Pulmonary Valve Atresia with Ventricular Septal Defect True False False NCIT:C99034 Congenital Pulmonary Lymphangiectasia True False False +NCIT:C99035 Pulmonary Hypoplasia True False False NCIT:C99037 Pyruvate Kinase Deficiency True False False NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome True False False NCIT:C99041 Renal Agenesis True False False @@ -174144,6 +174133,7 @@ NCIT:C99267 Congenital Malformation Syndrome True False False NCIT:C99383 Autoimmune Nervous System Disorder True False False NCIT:C99537 Venous Thromboembolism True False False NCIT:C99544 Left Ventricular Non-Compaction Syndrome True False False +NCIT:C99753 Disruptive Behavior Disorder True False False NCIT:C116779 Spondylitis True False True NCIT:C123265 X-linked Hypophosphatemic Rickets True False True NCIT:C131005 Triple A Syndrome True False True @@ -174210,6 +174200,8 @@ NCIT:C14089 Nuclear Localization Signal True True False NCIT:C14158 High Grade True True False NCIT:C142886 Hydrosalpinx True True False NCIT:C155766 Acute Lung Injury True True False +NCIT:C157158 Tyrosine Hydroxylase Deficiency True True False +NCIT:C160155 Bladder Diverticulum True True False NCIT:C161542 Neuroaxonal Dystrophy True True False NCIT:C168333 Musculoskeletal Chest Pain due to Costochondral Junction Syndrome True True False NCIT:C18252 EXT2 Gene True True False @@ -174246,6 +174238,7 @@ NCIT:C3455 Arachnoid Cyst True True False NCIT:C34585 Endomyocardial Fibrosis True True False NCIT:C34627 Frostbite True True False NCIT:C34738 Ischemia True True False +NCIT:C34802 Malignant Essential Hypertension True True False NCIT:C34820 Miliaria True True False NCIT:C34835 Nabothian Cyst True True False NCIT:C34850 Night Blindness True True False @@ -174280,16 +174273,23 @@ NCIT:C4389 Thiopurine Methyltransferase Deficiency True True False NCIT:C4657 Central Nervous System Cyst True True False NCIT:C4732 Neonatal Hypertension True True False NCIT:C4847 Colon Dysplasia True True False +NCIT:C50462 Aortic Valve Stenosis True True False +NCIT:C50654 Mitral Valve Stenosis True True False NCIT:C50764 Lymphadenopathy True True False +NCIT:C50783 Tricuspid Valve Stenosis True True False NCIT:C50795 Abnormal Vaginal Discharge True True False NCIT:C54220 Odontogenic Cyst True True False NCIT:C54302 Odontogenic Keratocyst True True False NCIT:C60672 MALT1 wt Allele True True False NCIT:C62569 Epidermolytic Ichthyosis True True False +NCIT:C78646 Tracheal Stenosis True True False NCIT:C79704 Precocious Puberty True True False +NCIT:C79821 Urethral Stricture True True False NCIT:C8196 Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma True True False NCIT:C84627 Cerebrospinal Fluid Rhinorrhea True True False +NCIT:C85172 Subvalvular Aortic Stenosis True True False NCIT:C85173 Sudden Infant Death Syndrome True True False +NCIT:C85176 Supravalvular Aortic Stenosis True True False NCIT:C85216 Urachal Cyst True True False NCIT:C85223 Wallerian Degeneration True True False NCIT:C86917 Steatorrhea True True False diff --git a/src/ontology/reports/ncit_unmapped_terms.tsv b/src/ontology/reports/ncit_unmapped_terms.tsv index 5cedb73b..6c054b2c 100644 --- a/src/ontology/reports/ncit_unmapped_terms.tsv +++ b/src/ontology/reports/ncit_unmapped_terms.tsv @@ -2,20 +2,15 @@ subject_id subject_label NCIT:C131086 17-Alpha-Hydroxylase/17,20 Lyase Deficiency NCIT:C75470 17q21 Microdeletion Syndrome NCIT:C75478 22q Telomere Deletion Syndrome -NCIT:C173146 3-Methylglutaconic Aciduria Type 5 NCIT:C127172 46,XX Ovotesticular Difference of Sex Development -NCIT:C179867 46,XX Sex Reversal 1 NCIT:C127174 46,XX/46,XY Ovotesticular Differences of Sex Development NCIT:C120194 46,XY Disorder of Androgen Action NCIT:C127173 46,XY Ovotesticular Differences of Sex Development -NCIT:C128188 46,XY Sex Reversal 1 -NCIT:C185635 49,XXXXY Syndrome NCIT:C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency NCIT:C123164 A1 Hydronephrosis NCIT:C123165 A2/3 Hydronephrosis NCIT:C187447 A53 Diffuse Large B-Cell Lymphoma NCIT:C106273 ABO Hemolytic Disease of the Newborn -NCIT:C158962 AH Amyloidosis NCIT:C158964 AHL Amyloidosis NCIT:C4988 AIDS Associated Opportunistic Infection NCIT:C3715 AIDS Encephalopathy @@ -63,7 +58,6 @@ NCIT:C27860 AIDS-Related Vulvovaginal Candidiasis NCIT:C9420 AJCC Grade 2 Sarcoma NCIT:C9421 AJCC Grade 3 Sarcoma NCIT:C9422 AJCC Grade 4 Sarcoma -NCIT:C158963 AL Amyloidosis NCIT:C185246 AMeD Syndrome NCIT:C78597 APL Differentiation Syndrome NCIT:C162770 ASPH-Positive Head and Neck Squamous Cell Carcinoma @@ -91,7 +85,6 @@ NCIT:C188317 Accelerated Phase Primary Myelofibrosis NCIT:C7371 Accessory Urethral Gland Carcinoma NCIT:C4378 Accessory Urethral Gland Neoplasm NCIT:C124493 Acephalostomia -NCIT:C168757 Achromatopsia 2 NCIT:C45929 Acidophil Stem Cell Pituitary Neuroendocrine Tumor NCIT:C21773 Acinar Adenocarcinoma of the Mouse Pulmonary System NCIT:C63909 Acinar Cell Adenocarcinoma of the Rat Pancreas @@ -108,16 +101,12 @@ NCIT:C23141 Acinic Cell Carcinoma of the Mouse Salivary Glands NCIT:C101191 Acquired Bilateral Cataracts NCIT:C98802 Acquired Cataract NCIT:C120442 Acquired Central Hypothyroidism -NCIT:C157718 Acquired Cystic Disease-Associated Renal Cell Carcinoma NCIT:C122426 Acquired Cytomegaloviral Infection NCIT:C34856 Acquired Deformity of Nose NCIT:C116902 Acquired Facial Nerve Palsy NCIT:C131621 Acquired Factor I Deficiency NCIT:C131623 Acquired Factor III Deficiency NCIT:C35440 Acquired Factor IX Deficiency -NCIT:C131624 Acquired Factor V Deficiency -NCIT:C131625 Acquired Factor VII Deficiency -NCIT:C131627 Acquired Factor XI Deficiency NCIT:C131628 Acquired Factor XII Deficiency NCIT:C78299 Acquired Feminization NCIT:C35227 Acquired Hallux Valgus @@ -142,7 +131,6 @@ NCIT:C121713 Acral Fibromyxoma NCIT:C54659 Acral Nevus NCIT:C179298 Acromesomelic Dysplasia, PRKG2 Type NCIT:C35810 Acroparesthesia Syndrome -NCIT:C183562 Actinic Cheilitis NCIT:C34349 Actinomycetoma NCIT:C27100 Actinomycotic Cerebral Abscess NCIT:C7923 Active Peptic Ulcer @@ -722,7 +710,6 @@ NCIT:C9259 Aggravated Granuloma Annulare NCIT:C3851 Aggravated Malignant Neoplasm NCIT:C3846 Aggravated Neurofibromatosis NCIT:C8492 Aggressive Adult Non-Hodgkin Lymphoma -NCIT:C178541 Aggressive B-Cell Non-Hodgkin Lymphoma NCIT:C9244 Aggressive Non-Hodgkin Lymphoma NCIT:C66796 Aggressive Osteoblastoma NCIT:C22963 Aggressive Osteoblastoma of the Mouse Skeletal System @@ -732,9 +719,6 @@ NCIT:C186732 Aggressive Systemic Mastocytosis Associated with Germ Cell Tumor NCIT:C178547 Aggressive T-Cell Non-Hodgkin Lymphoma NCIT:C171576 Aggressive Variant Prostate Carcinoma NCIT:C34363 Agoraphobia without a History of Panic Disorder -NCIT:C165501 Aicardi-Goutieres Syndrome 1 -NCIT:C165673 Aicardi-Goutieres Syndrome 2 -NCIT:C168585 Aicardi-Goutieres Syndrome 7 NCIT:C50455 Air Embolism NCIT:C28622 Airway Epithelial Hyperplasia of the Mouse Pulmonary System NCIT:C99086 Airway Infantile Hemangioma @@ -898,7 +882,6 @@ NCIT:C177323 Angiofibroma of Soft Tissue NCIT:C22943 Angiofibroma of the Mouse Blood Vessel, NOS NCIT:C23082 Angiofibroma of the Mouse Pharynx NCIT:C141294 Angioimmunoblastic T-Cell Lymphoma by Ann Arbor Stage -NCIT:C2874 Angiokeratoma NCIT:C22938 Angiokeratoma of the Mouse Blood Vessel NCIT:C22031 Angiolipoma of the Mouse Nervous System NCIT:C49016 Angiomyofibroblastoma @@ -1154,7 +1137,6 @@ NCIT:C128347 Antibiotic-Associated Colitis NCIT:C112209 Anticonvulsant Hypersensitivity Syndrome NCIT:C123125 Antimicrobial - Induced Nephropathy NCIT:C98815 Antithrombin III Deficiency -NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis NCIT:C34867 Anxiety Disorder Due to a General Medical Condition NCIT:C50461 Aortic Dissection NCIT:C50861 Aortic Valve Regurgitation @@ -1196,8 +1178,6 @@ NCIT:C43546 Appendix Tubular Adenoma NCIT:C43565 Appendix Tubular Carcinoid NCIT:C43547 Appendix Tubulovillous Adenoma NCIT:C43556 Appendix Undifferentiated Carcinoma -NCIT:C180557 Apraxia -NCIT:C98824 Aprosencephaly NCIT:C27775 Aromatic Dyes-Related Malignant Neoplasm NCIT:C178417 Arrhythmia-Induced Cardiomyopathy NCIT:C165475 Arsenical Keratosis @@ -1254,7 +1234,6 @@ NCIT:C26702 Ataxia NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 -NCIT:C176909 Ataxia-Pancytopenia Syndrome NCIT:C2888 Atelectasis NCIT:C3485 Atonic Epilepsy NCIT:C34987 Atopic Rhinitis @@ -1300,18 +1279,13 @@ NCIT:C175240 Autosomal Dominant Congenital Deafness with Onychodystrophy NCIT:C98829 Autosomal Dominant Disorder NCIT:C129730 Autosomal Dominant Hypoparathyroidism NCIT:C129736 Autosomal Dominant Neurohypophyseal Diabetes Insipidus -NCIT:C129732 Autosomal Dominant Osteopetrosis NCIT:C123167 Autosomal Dominant Polycystic Kidney Disease Type I -NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia NCIT:C118780 Autosomal Dominant Torsion Dystonia 1 NCIT:C176822 Autosomal Recessive Agammaglobulinemia NCIT:C154314 Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I NCIT:C85866 Autosomal Recessive Disorder NCIT:C129731 Autosomal Recessive Hypoparathyroidism -NCIT:C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y NCIT:C180849 Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 -NCIT:C167215 Autosomal Recessive Osteopetrosis 1 -NCIT:C176624 Autosomal Recessive Severe Congenital Neutropenia NCIT:C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay NCIT:C177252 Autosomal Recessive Spastic Ataxia-2 NCIT:C35447 Avascular Necrosis of Femoral Head @@ -1382,7 +1356,6 @@ NCIT:C4226 Balloon Cell Nevus NCIT:C171267 Bare Lymphocyte Syndrome Type 1 NCIT:C171268 Bare Lymphocyte Syndrome Type 2 NCIT:C128241 Bartholin Gland Hyperplasia -NCIT:C168990 Bartsocas-Papas Syndrome NCIT:C178412 Bartter Syndrome, Type 1 NCIT:C23133 Basal Cell Adenoma of the Mouse Salivary Glands NCIT:C39757 Basal Cell Ameloblastoma @@ -1402,7 +1375,6 @@ NCIT:C134955 Bat Skin Tumor NCIT:C172308 Bee Venom Allergy NCIT:C35470 Behavioral Disorder NCIT:C116361 Behavioral Insomnia of Childhood -NCIT:C177251 Behr Syndrome NCIT:C4532 Benign Accessory Urethral Gland Neoplasm NCIT:C9004 Benign Adrenal Cortical Neoplasm NCIT:C5116 Benign Adult Brain Neoplasm @@ -1586,7 +1558,6 @@ NCIT:C96759 Beta-Catenin-Activated Hepatocellular Adenoma NCIT:C172707 Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma NCIT:C84597 Beta-Methylcrotonylglycinuria NCIT:C128803 Bicuspid Aortic Valve -NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy NCIT:C101187 Bilateral Anophthalmos NCIT:C8500 Bilateral Carcinoma NCIT:C101193 Bilateral Cataracts @@ -1662,7 +1633,6 @@ NCIT:C188316 Blast Phase Myeloproliferative Neoplasm NCIT:C188318 Blast Phase Primary Myelofibrosis NCIT:C35817 Blastic Granulocytic Sarcoma NCIT:C7229 Blastoid Variant Mantle Cell Lymphoma -NCIT:C34428 Blastomycosis NCIT:C27320 Blennorrhagic Arthritis NCIT:C150407 Body Cavity Primary Effusion Lymphoma NCIT:C136610 Bone Cancer by AJCC v7 Stage @@ -1681,7 +1651,6 @@ NCIT:C27475 Bone Lipoma NCIT:C188064 Bone Malignant Peripheral Nerve Sheath Tumor NCIT:C110960 Bone Marrow Aplasia NCIT:C80693 Bone Marrow Failure -NCIT:C165614 Bone Marrow Failure Syndrome NCIT:C2905 Bone Marrow Hyperplasia NCIT:C74440 Bone Marrow Suppression NCIT:C5110 Bone Marrow Transplantation Nephropathy @@ -1856,11 +1825,11 @@ NCIT:C7436 Bronchial Intraepithelial Neoplasia NCIT:C45602 Bronchial Mixed Squamous Cell and Glandular Papilloma NCIT:C45573 Bronchial Squamous Cell Papilloma NCIT:C183045 Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor +NCIT:C62580 Bronchiolitis Obliterans NCIT:C184957 Bronchiolitis Obliterans Syndrome NCIT:C35327 Broncho-Esophageal Fistula NCIT:C98847 Bronchomalacia NCIT:C80694 Bronchopleural Fistula -NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 NCIT:C135565 Brunner's Gland Hyperplasia NCIT:C8175 Buccal Mucosa Verrucous Carcinoma NCIT:C134943 Budgerigar Fibrosarcoma @@ -1914,7 +1883,6 @@ NCIT:C111887 Candida Diaper Dermatitis NCIT:C35386 Cannabis Dependence, Continuous Use NCIT:C35387 Cannabis Dependence, Episodic Use NCIT:C22932 Capillary Hemangioma of the Mouse Blood Vessel -NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome NCIT:C132290 Carbonic Anhydrase I Deficiency NCIT:C65196 Carcinoid Tumor of Uncertain Malignant Potential NCIT:C23124 Carcinoid Tumor of the Mouse Larynx @@ -1949,6 +1917,7 @@ NCIT:C147097 Cardiac Angiosarcoma NCIT:C45757 Cardiac Biphasic Synovial Sarcoma NCIT:C45751 Cardiac Capillary Hemangioma NCIT:C45750 Cardiac Cavernous Hemangioma +NCIT:C78245 Cardiac Conduction Disorder NCIT:C183146 Cardiac Diffuse Large B-Cell Lymphoma NCIT:C5362 Cardiac Epithelioid Hemangioendothelioma NCIT:C147003 Cardiac Extraskeletal Osteosarcoma @@ -1970,10 +1939,8 @@ NCIT:C45756 Cardiac Synovial Sarcoma NCIT:C147007 Cardiac Teratoma NCIT:C45755 Cardiac Undifferentiated Pleomorphic Sarcoma NCIT:C147006 Cardiac Yolk Sac Tumor -NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay NCIT:C61453 Cardiomegaly NCIT:C34462 Cardiomyopathy in Chagas' Disease -NCIT:C188216 Cardiospondylocarpofacial Syndrome NCIT:C168128 Carditis NCIT:C23118 Cartilage/Bone Neoplasms of the Mouse Larynx NCIT:C40424 Cartilaginous Hamartoma @@ -2070,7 +2037,6 @@ NCIT:C179883 Cerebellar Peduncle Neoplasm NCIT:C66803 Cerebellar Sarcoma NCIT:C27030 Cerebral Abscess NCIT:C142852 Cerebral Adrenoleukodystrophy -NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 NCIT:C5151 Cerebral Glioblastoma NCIT:C155947 Cerebral Hemangioblastoma @@ -2080,7 +2046,6 @@ NCIT:C5054 Cerebral Lymphoma in Immunocompetent Host NCIT:C7609 Cerebral Non-Hodgkin Lymphoma NCIT:C180840 Cerebral Vascular Insufficiency NCIT:C132727 Cerebral Vein Thrombosis -NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 NCIT:C5558 Ceruminous Neoplasm NCIT:C127915 Cervical Adenocarcinoma Admixed with Neuroendocrine Carcinoma NCIT:C4520 Cervical Adenocarcinoma In Situ @@ -2101,7 +2066,6 @@ NCIT:C181909 Cervical Florid Reactive Lymphoid Hyperplasia NCIT:C180879 Cervical Germ Cell Tumor NCIT:C7673 Cervical Glandular Intraepithelial Neoplasia NCIT:C40210 Cervical Glandular Neoplasm -NCIT:C3782 Cervical Intraepithelial Neoplasia NCIT:C180861 Cervical Invasive Stratified Mucinous Adenocarcinoma NCIT:C128046 Cervical Leiomyoma NCIT:C40222 Cervical Low Grade Endometrioid Stromal Sarcoma @@ -2137,8 +2101,6 @@ NCIT:C6345 Cervical Undifferentiated Carcinoma NCIT:C40191 Cervical Warty Carcinoma NCIT:C128055 Cervical Yolk Sac Tumor NCIT:C128715 Cesarean Scar Pregnancy -NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 -NCIT:C168974 Charcot-Marie-Tooth Disease Type 2Y NCIT:C124508 Cheilognathopalatoschisis NCIT:C124509 Cheilognathoschisis NCIT:C118458 Cheiromegaly @@ -2147,7 +2109,6 @@ NCIT:C82938 Chemical Gastritis NCIT:C114752 Chemical Peritonitis NCIT:C35316 Chemical Pneumonitis NCIT:C123128 Chemotherapeutic Drug - Induced Nephropathy -NCIT:C164162 Chemotherapy-Induced Alopecia NCIT:C156348 Chemotherapy-Induced Peripheral Neuropathy NCIT:C80691 Chemotherapy-Related Leukemia NCIT:C4372 Cherry Hemangioma of Lip @@ -2345,7 +2306,6 @@ NCIT:C116798 Childhood-Onset Systemic Lupus Erythematosus NCIT:C44960 Chlamydia Psittaci-Associated Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma NCIT:C44959 Chlamydophila psittaci Infection NCIT:C35332 Cholecystitis with Cholelithiasis -NCIT:C157812 Cholera NCIT:C22950 Chondroblastic Osteosarcoma of the Mouse Skeletal System NCIT:C22972 Chondroblastoma of the Mouse Skeletal System, Malignant NCIT:C22971 Chondroblastoma of the Mouse Skeletal System, NOS @@ -2654,13 +2614,11 @@ NCIT:C165523 Combined BAP1-Inactivated Nevus NCIT:C21727 Combined Epithelial / Stromal Atypical Hyperplasia of the Mouse Prostate Gland NCIT:C21714 Combined Epithelial / Stromal Diffuse Hyperplasia of the Mouse Prostate Gland NCIT:C21720 Combined Epithelial / Stromal Focal Hyperplasia of the Mouse Prostate Gland -NCIT:C174548 Combined Hamartoma of the Retina and Retinal Pigment Epithelium NCIT:C176596 Combined Immunodeficiencies Associated with Syndromic Features NCIT:C9379 Combined Lung Small Cell Carcinoma and Lung Adenocarcinoma NCIT:C165529 Combined Nevus NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 -NCIT:C174440 Combined Oxidative Phosphorylation Deficiency 33 NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 NCIT:C45722 Combined Thymic Epithelial Neoplasm NCIT:C27797 Common Acute Lymphoblastic Leukemia @@ -2689,11 +2647,9 @@ NCIT:C3711 Compound Odontoma NCIT:C35804 Conditioned Insomnia NCIT:C2960 Condyloma Acuminatum NCIT:C97057 Condyloma Acuminatum with Dysplasia -NCIT:C162399 Cone-Rod Dystrophy 2 NCIT:C61234 Congenital Abnormalities of Erythrocyte Differentiation or Function NCIT:C98881 Congenital Abnormality of the Large Intestine NCIT:C35599 Congenital Adrenal Gland Disorder -NCIT:C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency NCIT:C89161 Congenital Amegakaryocytosis NCIT:C87077 Congenital Ankyloblepharon NCIT:C103266 Congenital Aortic Arch Hypoplasia @@ -2741,7 +2697,6 @@ NCIT:C101329 Congenital Malformation Syndrome Related to Known Exogenous Cause NCIT:C128732 Congenital Microcephaly NCIT:C180842 Congenital Microtia NCIT:C89337 Congenital Musculoskeletal Defect -NCIT:C168997 Congenital Myasthenic Syndrome 12 NCIT:C174216 Congenital Myasthenic Syndrome-4C NCIT:C123045 Congenital Nephrotic Syndrome - Cytomegalovirus Associated NCIT:C121200 Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis @@ -2835,7 +2790,6 @@ NCIT:C168177 Coronary Artery Ectasia NCIT:C100070 Coronary Venous Dissection NCIT:C181757 Coronavirus Infection NCIT:C179884 Corpus Callosum Neoplasm -NCIT:C135177 Cortical Cataract NCIT:C135197 Cortical Cataract Grade 1 NCIT:C135198 Cortical Cataract Grade 2 NCIT:C135199 Cortical Cataract Grade 3 @@ -2866,7 +2820,6 @@ NCIT:C123050 Cryoglobulinemic Glomerulonephritis NCIT:C123179 Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease NCIT:C82902 Crypt Abscess NCIT:C35590 Cryptococcal Gastroenteritis -NCIT:C174113 Cryptococcal Meningitis NCIT:C35361 Cryptococcal Pneumonia NCIT:C98908 Cryptophthalmos Syndrome NCIT:C35591 Cryptosporidial Gastroenteritis @@ -2893,7 +2846,6 @@ NCIT:C45240 Cutaneous Hematopoietic and Lymphoid Cell Neoplasm NCIT:C168980 Cutaneous Histiocytic and Dendritic Cell Neoplasm NCIT:C168984 Cutaneous Indeterminate Dendritic Cell Tumor NCIT:C168983 Cutaneous Langerhans Cell Histiocytosis -NCIT:C34768 Cutaneous Leishmaniasis NCIT:C171101 Cutaneous Lymphoma NCIT:C45267 Cutaneous Lymphomatoid Granulomatosis NCIT:C7614 Cutaneous Lymphoproliferative Disorder @@ -2985,7 +2937,6 @@ NCIT:C95073 Delayed Sleep Phase Type Circadian Rhythm Sleep Disorder NCIT:C5305 Deletion of Chromosome 22 Associated Meningioma NCIT:C5306 Deletion of Chromosome 3p Associated Meningioma NCIT:C5294 Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma -NCIT:C2981 Delirium NCIT:C92639 Delirium Due to a General Medical Condition NCIT:C35797 Demyelinating Encephalopathy NCIT:C154339 Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor @@ -3055,21 +3006,9 @@ NCIT:C114723 Dialysis Catheter Infection NCIT:C114726 Dialysis Catheter Tunnel Infection NCIT:C50531 Dialysis Encephalopathy NCIT:C50532 Dialyzer First Use Syndrome -NCIT:C176911 Diamond-Blackfan Anemia 1 -NCIT:C176919 Diamond-Blackfan Anemia 10 -NCIT:C176920 Diamond-Blackfan Anemia 11 -NCIT:C176912 Diamond-Blackfan Anemia 3 -NCIT:C176913 Diamond-Blackfan Anemia 4 -NCIT:C176914 Diamond-Blackfan Anemia 5 -NCIT:C176915 Diamond-Blackfan Anemia 6 -NCIT:C176916 Diamond-Blackfan Anemia 7 -NCIT:C176917 Diamond-Blackfan Anemia 8 -NCIT:C176918 Diamond-Blackfan Anemia 9 NCIT:C111886 Diaper Dermatitis -NCIT:C98912 Diaphragmatic Eventration NCIT:C34687 Diaphragmatic Hernia NCIT:C123226 Diarrhea-associated Hemolytic Uremic Syndrome -NCIT:C156311 Diastrophic Dysplasia NCIT:C5129 Diencephalic Glioblastoma NCIT:C5125 Diencephalic Neoplasm NCIT:C162539 Differentiated (Simplex) Penile Intraepithelial Neoplasia @@ -3176,7 +3115,6 @@ NCIT:C182078 Dilated Cardiomyopathy-1G NCIT:C173625 Dilated Cardiomyopathy-1P NCIT:C187983 Dilated Cardiomyopathy-1W NCIT:C186785 Dilated Cardiomyopathy-2C -NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome NCIT:C116599 Diplegia NCIT:C50534 Direct Contact Transmission Infection NCIT:C34691 Direct Inguinal Hernia @@ -3192,7 +3130,6 @@ NCIT:C21864 Disorders of Pigmentation of the Mouse Skin NCIT:C21865 Disorders of the Mouse Hair Follicle NCIT:C21863 Disorders of the Squamous Epithelium of the Mouse Skin NCIT:C35005 Disorganized Type Schizophrenia -NCIT:C99753 Disruptive Behavior Disorder NCIT:C27185 Disseminated Adenocarcinoma NCIT:C113669 Disseminated Bacillus Calmette-Guerin Infection NCIT:C27469 Disseminated Carcinoma @@ -3250,24 +3187,11 @@ NCIT:C98915 Duplex Kidney NCIT:C98917 Duplicated Ureter NCIT:C95991 Dural Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C79549 Dysarthria -NCIT:C173131 Dyschromatosis Universalis Hereditaria NCIT:C180532 Dysembryoplastic Neuroepithelial-Like Tumor of the Septum Pellucidum NCIT:C123227 Dysfunctional Elimination Syndrome -NCIT:C182452 Dysgraphia -NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 -NCIT:C176922 Dyskeratosis Congenita, Autosomal Dominant 2 -NCIT:C176923 Dyskeratosis Congenita, Autosomal Dominant 3 -NCIT:C176924 Dyskeratosis Congenita, Autosomal Dominant 6 -NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 -NCIT:C176926 Dyskeratosis Congenita, Autosomal Recessive 2 -NCIT:C176927 Dyskeratosis Congenita, Autosomal Recessive 3 -NCIT:C176928 Dyskeratosis Congenita, Autosomal Recessive 5 -NCIT:C176929 Dyskeratosis Congenita, Autosomal Recessive 6 NCIT:C34559 Dysmenorrhea NCIT:C86950 Dysphonia NCIT:C21968 Dysplastic Lhermitte-Duclos Gangliocytoma of Mouse Cerebellum -NCIT:C157577 Dystonia 12 -NCIT:C168729 Dystonia 16 NCIT:C178217 EBV-Associated Smooth Muscle Tumor NCIT:C172847 EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma NCIT:C150704 EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma of the Digestive System @@ -3315,8 +3239,6 @@ NCIT:C53282 Early Unfavorable Non-Hodgkin Lymphoma NCIT:C97111 Ecchordosis Physaliphora NCIT:C4703 Eccrine Angiomatous Hamartoma NCIT:C7565 Eccrine Hidrocystoma -NCIT:C176592 Ectodermal Dysplasia and Immunodeficiency 1 -NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 NCIT:C121785 Ectomesenchymal Chondromyxoid Tumor NCIT:C8442 Ectopic Aldosterone Secretion Syndrome NCIT:C99113 Ectopic Atrial Tachycardia @@ -3415,7 +3337,6 @@ NCIT:C155774 Ependymal Pituicytoma NCIT:C171452 Epidemic Disorder NCIT:C180730 Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion NCIT:C53296 Epidermal Hyperplasia -NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia NCIT:C162483 Epididymal Cystadenoma @@ -3544,7 +3465,6 @@ NCIT:C63888 Exophytic Squamous Cell Carcinoma of the Rat Esophagus NCIT:C16835 Experimental Malignant Melanoma NCIT:C119041 Extended Oligoarticular Juvenile Idiopathic Arthritis NCIT:C9049 Extensive Stage Lung Small Cell Carcinoma -NCIT:C128417 Extensively Drug-Resistant Tuberculosis NCIT:C124532 External Auditory Canal Fistula NCIT:C6080 External Ear Actinic Keratosis NCIT:C35320 External Hemorrhoid @@ -3582,7 +3502,6 @@ NCIT:C172743 Extrahepatic Bile Duct Neuroendocrine Tumor G3 NCIT:C5850 Extrahepatic Bile Duct Tubular Adenoma NCIT:C96811 Extrahepatic Bile Duct Tubulopapillary Adenoma NCIT:C5780 Extrahepatic Bile Duct Undifferentiated Carcinoma -NCIT:C97069 Extrahepatic Biliary Atresia NCIT:C185149 Extramedullary Disease in Plasma Cell Myeloma NCIT:C185037 Extramedullary Disease in Plasma Cell Myeloma Involving the Central Nervous System NCIT:C185153 Extramedullary Disease in Plasma Cell Myeloma Involving the Kidney @@ -3606,7 +3525,6 @@ NCIT:C171169 Extrarenal Rhabdoid Tumor of the Ovary NCIT:C161608 Extrarenal Rhabdoid Tumor of the Prostate NCIT:C6570 Extraskeletal Cartilaginous and Osseous Neoplasm NCIT:C6575 Extraskeletal Osteoma -NCIT:C175048 Exudative Vitreoretinopathy 1 NCIT:C175223 Eye Melanocytoma NCIT:C181159 Eyelid Basal Cell Carcinoma NCIT:C140511 Eyelid Carcinoma by AJCC v7 Stage @@ -3658,7 +3576,6 @@ NCIT:C9029 FNCLCC Sarcoma Grade 3 NCIT:C121152 FSH-Producing Pituitary Neuroendocrine Tumor NCIT:C116901 Facial Nerve Palsy Related to Birth NCIT:C101316 Facial Nerve Palsy Related to Trauma -NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 NCIT:C26692 Factor I Deficiency NCIT:C131660 Factor I Inactivation NCIT:C131661 Factor II Inactivation @@ -3693,7 +3610,6 @@ NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 NCIT:C123228 Familial Atypical Hemolytic Uremic Syndrome NCIT:C185245 Familial Catecholamine-Induced QT Prolongation -NCIT:C175208 Familial Digital Arthropathy-Brachydactyly NCIT:C176906 Familial Gastrointestinal Stromal Tumor NCIT:C123261 Familial Hypercalciuric Hypocalcemia NCIT:C172092 Familial Hypertrophic Cardiomyopathy Type 1 @@ -3779,7 +3695,6 @@ NCIT:C22130 Flat Tubular Adenoma of the Mouse Intestinal Tract NCIT:C22136 Flat Tubulovillous Adenoma of the Mouse Intestinal Tract NCIT:C22133 Flat Villous Adenoma of the Mouse Intestinal Tract NCIT:C54660 Flexural Skin Nevus -NCIT:C175241 Floating-Harbor Syndrome NCIT:C8180 Floor of Mouth Adenoid Cystic Carcinoma NCIT:C129873 Floor of Mouth Basaloid Squamous Cell Carcinoma NCIT:C116708 Floppy Infant @@ -3826,9 +3741,7 @@ NCIT:C95779 Foveolar-Type Adenoma NCIT:C134771 Frog Pronephric Kidney Tumor NCIT:C156035 Frontal Lobe Anaplastic Astrocytoma NCIT:C156120 Frontal Lobe Anaplastic Oligodendroglioma -NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 NCIT:C94354 Frotteurism -NCIT:C172316 Fruit Allergy NCIT:C164156 Fumarate Hydratase-Deficient Renal Cell Carcinoma NCIT:C171089 Functional Disorder of Polymorphonuclear Neutrophils NCIT:C116365 Functional Hearing Loss @@ -3838,7 +3751,6 @@ NCIT:C121720 Functioning Pituitary Neuroendocrine Tumor/Macroadenoma NCIT:C121679 Functioning Pituitary Neuroendocrine Tumor/Microadenoma NCIT:C8961 Fundic Gland Polyp NCIT:C53658 Fungal Endophthalmitis -NCIT:C128370 Fungal Keratitis NCIT:C128406 Fungal Pericarditis NCIT:C99087 Furuncle NCIT:C123732 Fusion-Negative Alveolar Rhabdomyosarcoma @@ -3896,7 +3808,6 @@ NCIT:C66804 Ganglioneuromatosis NCIT:C115967 Gangrenous Umbilical Hernia NCIT:C49017 Gardner Fibroma NCIT:C118508 Gasping Syndrome -NCIT:C172989 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach NCIT:C95775 Gastric Adenoma, Gastric-Type NCIT:C95773 Gastric Adenoma, Intestinal-Type NCIT:C8400 Gastric Antrum Carcinoma In Situ AJCC v6 and v7 @@ -4022,7 +3933,6 @@ NCIT:C5699 Giant Fibrovascular Esophageal Polyp NCIT:C134774 Gibbon Lymphosarcoma NCIT:C27478 Gingival Angiofibroma NCIT:C7721 Gingival Carcinoma -NCIT:C173795 Gingival Disorder NCIT:C129289 Gingival Spindle Cell Carcinoma NCIT:C129857 Gingival Squamous Cell Carcinoma NCIT:C27269 Glandular Cell Intraepithelial Neoplasia @@ -4120,14 +4030,12 @@ NCIT:C21839 Granular Cell Tumor of the Mouse Skin NCIT:C7995 Granular Renal Cell Carcinoma NCIT:C22061 Granulocytic Sarcoma of the Mouse Nervous System NCIT:C21641 Granuloma of the Mouse Mammary Gland -NCIT:C3444 Granulomatosis with Polyangiitis NCIT:C37262 Granulomatous Colitis NCIT:C66751 Granulosa Cell-Theca Cell Tumor NCIT:C113421 Gray Baby Syndrome NCIT:C5348 Great Vessel Neoplasm NCIT:C99137 Great Vessels Abnormality NCIT:C116601 Gross Motor Delay -NCIT:C87168 Group B Streptococcal Infection NCIT:C116793 Group B Streptococcal Infection, Early-Onset NCIT:C116795 Group B Streptococcal Infection, Late-Onset NCIT:C134563 Guinea Pig Colon Adenocarcinoma @@ -4247,7 +4155,6 @@ NCIT:C23083 Hematopoietic Neoplasms of the Mouse Pharynx NCIT:C23147 Hematopoietic Neoplasms of the Mouse Salivary Glands NCIT:C7340 Hematopoietic and Lymphoid Neoplasm (Antiquated) NCIT:C35814 Hematopoietic and Lymphoid System Disorder -NCIT:C177779 Hemimegalencephaly NCIT:C5123 Hemispheric Anaplastic Astrocytoma NCIT:C124541 Hemivertebra NCIT:C114724 Hemodialysis Catheter Infection @@ -4299,7 +4206,6 @@ NCIT:C98939 Hereditary Factor VII Deficiency NCIT:C26770 Hereditary Factor XII Deficiency NCIT:C98941 Hereditary Factor XIII Deficiency NCIT:C36107 Hereditary Female Breast Carcinoma -NCIT:C156424 Hereditary Folate Malabsorption NCIT:C36106 Hereditary Male Breast Carcinoma NCIT:C9479 Hereditary Malignant Neoplasm NCIT:C155950 Hereditary Malignant Urinary System Neoplasm @@ -4536,10 +4442,8 @@ NCIT:C3461 Immunoblastic Lymphoma NCIT:C7249 Immunoblastic Lymphoma Post-Transplant Lymphoproliferative Disorder NCIT:C176597 Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency NCIT:C176598 Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency -NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities -NCIT:C176806 Immunodeficiency 27A NCIT:C176821 Immunodeficiency 48 NCIT:C126296 Immunodeficiency of Unknown Origin NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 @@ -4553,7 +4457,6 @@ NCIT:C27770 Immunodeficiency-Related Malignant Neoplasm NCIT:C27936 Immunodeficiency-Related Neoplasm NCIT:C27141 Immunoglobulin Heavy Chain Deletion NCIT:C178942 Immunosuppressive Disorder -NCIT:C158968 Immunotactoid Glomerulopathy NCIT:C123639 Imperforate Vagina NCIT:C78358 Implant Infection NCIT:C138181 In Situ Follicular Neoplasia @@ -4586,7 +4489,6 @@ NCIT:C185472 Infant-Type Hemispheric Glioma, NTRK-Altered NCIT:C185473 Infant-Type Hemispheric Glioma, ROS1-Altered NCIT:C6645 Infantile Hemangioma NCIT:C27498 Infantile Hemangiopericytoma -NCIT:C158135 Infantile Liver Failure Syndrome 2 NCIT:C180887 Infantile Myofibroma NCIT:C176943 Infantile Myofibromatosis 1 NCIT:C176944 Infantile Myofibromatosis 2 @@ -4631,7 +4533,6 @@ NCIT:C6158 Infiltrating Ureter Urothelial Carcinoma with Mixed Differentiation NCIT:C6156 Infiltrating Ureter Urothelial Carcinoma with Squamous Differentiation NCIT:C164252 Infiltrating Urothelial Carcinoma, Sarcomatoid Variant NCIT:C174448 Inflamed Juvenile Conjunctival Nevus -NCIT:C164676 Inflammatory Bowel Disease 28 NCIT:C172700 Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma NCIT:C21638 Inflammatory Conditions of the Mouse Mammary Gland NCIT:C21697 Inflammatory Conditions of the Mouse Prostate Gland @@ -4694,7 +4595,6 @@ NCIT:C121738 Intermediate Soft Tissue Tumor of Uncertain Differentiation NCIT:C7334 Intermediate Vascular Neoplasm NCIT:C98958 Interrupted Aortic Arch NCIT:C62410 Interstitial Disease -NCIT:C164315 Interstitial Lung Disease NCIT:C27006 Interstitial Pneumonia NCIT:C5325 Intestinal Composite Gangliocytoma/Neuroma and Neuroendocrine Tumor NCIT:C98960 Intestinal Duplication @@ -4818,7 +4718,6 @@ NCIT:C120164 Isolated Premature Menarche NCIT:C121923 Ivory Exostosis NCIT:C128830 JC Virus Infection NCIT:C94385 Jealous Type Delusional Disorder -NCIT:C181158 Jejunal Adenocarcinoma NCIT:C101027 Jejunal Atresia NCIT:C181157 Jejunal Carcinoma NCIT:C78396 Jejunal Fistula @@ -4831,9 +4730,6 @@ NCIT:C98966 Jejunal Web NCIT:C95074 Jet Lag Type Circadian Rhythm Sleep Disorder NCIT:C78402 Joint Infection NCIT:C26804 Joint Tuberculosis -NCIT:C175702 Joubert Syndrome 17 -NCIT:C159653 Joubert Syndrome 7 -NCIT:C181002 Joubert Syndrome 9 NCIT:C5589 Jugular Foramen Neoplasm NCIT:C21783 Junctional Melanocytic Hyperplasia of Mouse NCIT:C4231 Junctional Nevus @@ -4864,8 +4760,6 @@ NCIT:C9414 Kaposi Sarcoma NCI Grade 3 NCIT:C9113 Kaposi Sarcoma Related to Immunosuppressive Treatment NCIT:C22937 Kaposi Sarcoma of the Mouse Blood Vessel NCIT:C22050 Kaposi Sarcoma of the Mouse Nervous System -NCIT:C173626 Karyomegalic Interstitial Nephritis -NCIT:C186306 Keipert Syndrome NCIT:C64114 Keratinizing Cystic Epithelioma of the Rat Lung NCIT:C7498 Keratinizing Primary Intraosseous Squamous Cell Carcinoma-Solid Type NCIT:C64041 Keratoacanthoma of the Rat External Ear @@ -4968,7 +4862,6 @@ NCIT:C173391 Laryngeal Neuroendocrine Tumor NCIT:C188223 Laryngeal Neuroendocrine Tumor G1 NCIT:C173392 Laryngeal Neuroendocrine Tumor G2 NCIT:C54335 Laryngeal Papillary Squamous Cell Carcinoma -NCIT:C157733 Laryngeal Papillomatosis NCIT:C6409 Laryngeal Paraganglioma NCIT:C173412 Laryngeal Pleomorphic Adenoma NCIT:C7411 Laryngeal Precancerous Condition @@ -4993,8 +4886,6 @@ NCIT:C50907 Leaflet Disruption Due To Unknown Cause NCIT:C179188 Leaky Severe Combined Immunodeficiency NCIT:C4791 Left Atrial Myxoma NCIT:C50630 Left Ventricular Failure -NCIT:C157266 Left Ventricular Noncompaction 7 -NCIT:C176941 Legius Syndrome NCIT:C22147 Leiomyoma of the Mouse Intestinal Tract NCIT:C22037 Leiomyoma of the Mouse Nervous System NCIT:C23054 Leiomyoma of the Mouse Oral Cavity @@ -5028,7 +4919,6 @@ NCIT:C165485 Lichen Planus-Like Keratosis NCIT:C118866 Lid Retraction NCIT:C159456 Light Chain Fanconi Syndrome NCIT:C158966 Light Chain Proximal Tubulopathy without Crystals -NCIT:C158965 Light and Heavy Chain Deposition Disease NCIT:C7853 Limited Stage Lung Small Cell Carcinoma NCIT:C132052 Lingual Thyroid Gland NCIT:C8014 Lip Basal Cell Carcinoma @@ -5356,8 +5246,6 @@ NCIT:C165737 Locally Recurrent Skin Squamous Cell Carcinoma NCIT:C179182 Locally Recurrent Uterine Corpus Leiomyosarcoma NCIT:C186786 Loeys-Dietz Syndrome Type 3 NCIT:C188143 Loeys-Dietz Syndrome Type 5 -NCIT:C177534 Long QT Syndrome 14 -NCIT:C172094 Long QT Syndrome 5 NCIT:C34787 Lordosis NCIT:C160144 Low Anterior Resection Syndrome NCIT:C35583 Low Frequency Hearing Loss @@ -5474,7 +5362,6 @@ NCIT:C101211 Lumbar Meningocele NCIT:C98976 Lumbar Myelocele NCIT:C101203 Lumbar Myelomeningocele NCIT:C158330 Lumbar Rib -NCIT:C177445 Lumbar Spinal Stenosis NCIT:C35518 Lumbar Spine Kyphosis NCIT:C168673 Lumbar Spine Neoplasm NCIT:C168694 Lumbosacral Spine Neoplasm @@ -5591,20 +5478,16 @@ NCIT:C23064 Lymphoproliferative Neoplasms of the Mouse Oral Cavity NCIT:C23084 Lymphoproliferative Neoplasms of the Mouse Pharynx NCIT:C23148 Lymphoproliferative Neoplasms of the Mouse Salivary Glands NCIT:C26960 Lymphosarcoma Involving Spleen -NCIT:C6725 Lynch 1 Syndrome -NCIT:C6726 Lynch 2 Syndrome NCIT:C188259 MAFA Related Familial Insulinomatosis NCIT:C21881 MAIDS NCIT:C148394 MCD Diffuse Large B-Cell Lymphoma NCIT:C154335 MGMT-Methylated Glioblastoma NCIT:C132902 MGMT-Unmethylated Glioblastoma -NCIT:C176823 MHC Class II Deficiency NCIT:C178235 MYOD1-Mutant Spindle Cell/Sclerosing Rhabdomyosarcoma NCIT:C182077 Macaca mulatta Hepatocellular Carcinoma NCIT:C35268 Macrocephaly NCIT:C46092 Macrofollicular Variant Thyroid Gland Papillary Carcinoma NCIT:C127166 Macronodular Adrenal Hyperplasia -NCIT:C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss NCIT:C172710 Macrotrabecular Massive Hepatocellular Carcinoma NCIT:C168999 Macular Dystrophy, Retinal, 1 NCIT:C123030 Magnesium Ammonium Phosphate Urolithiasis @@ -5940,7 +5823,6 @@ NCIT:C129442 Medulloblastoma, SHH-Activated, TP53-Mutant NCIT:C129443 Medulloblastoma, SHH-Activated, TP53-Wildtype NCIT:C129440 Medulloblastoma, WNT-Activated NCIT:C66808 Medulloepithelioma Not Otherwise Specified -NCIT:C187989 Meester-Loeys Syndrome NCIT:C123188 Megacystis - Megaureter NCIT:C7066 Megakaryocytic Neoplasm NCIT:C123161 Megaureter @@ -5960,7 +5842,6 @@ NCIT:C154473 Melanoma of Unknown Primary NCIT:C23098 Melanoma of the Mouse Nose and Paranasal Sinuses NCIT:C23062 Melanoma of the Mouse Oral Cavity NCIT:C176905 Melanoma-Astrocytoma Syndrome -NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome NCIT:C64124 Melanotic Malignant Melanoma of the Rat Skin NCIT:C66841 Melanotic Neurofibroma NCIT:C123056 Membranoproliferative Glomerulonephritis Type 3 (AQ) @@ -5977,7 +5858,6 @@ NCIT:C124556 Membranous Ventricular Septal Defect NCIT:C46084 Memory Dysfunction NCIT:C78444 Memory Impairment NCIT:C176601 Mendelian Susceptibility to Mycobacterial Diseases -NCIT:C185243 Meniere Disease NCIT:C27383 Meningeal Carcinomatosis NCIT:C92652 Meningeal Central Nervous System Solitary Fibrous Tumor, Grade 3 NCIT:C9111 Meningeal Chronic Myelogenous Leukemia, BCR-ABL1 Positive @@ -6252,7 +6132,6 @@ NCIT:C175329 Metastatic Malignant Neoplasm in the Lacrimal Gland NCIT:C175327 Metastatic Malignant Neoplasm in the Lacrimal System NCIT:C4581 Metastatic Malignant Neoplasm in the Large Intestine NCIT:C6031 Metastatic Malignant Neoplasm in the Larynx -NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges NCIT:C8542 Metastatic Malignant Neoplasm in the Lip NCIT:C4758 Metastatic Malignant Neoplasm in the Liver NCIT:C3577 Metastatic Malignant Neoplasm in the Lung @@ -6453,7 +6332,6 @@ NCIT:C156065 Metastatic Vaginal Carcinoma NCIT:C181031 Metastatic Vaginal Squamous Cell Carcinoma NCIT:C156066 Metastatic Vulvar Carcinoma NCIT:C174201 Metastatic Vulvar Squamous Cell Carcinoma -NCIT:C175209 Metatropic Dysplasia NCIT:C115248 Methicillin-Resistant Staphylococcus aureus Infection NCIT:C122523 Methicillin-Resistant Staphylococcus aureus Pneumonia NCIT:C182126 Methicillin-Sensitive Staphylococcus aureus Infection @@ -6526,7 +6404,6 @@ NCIT:C180514 Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma NCIT:C35410 Mite-Borne Hemorrhagic Fever NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 NCIT:C186788 Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 -NCIT:C172095 Mitochondrial DNA Depletion Syndrome 13 NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) NCIT:C183531 Mitochondrial DNA Depletion Syndrome-9 NCIT:C185235 Mitochondrial DNA Depletion Syndromes @@ -6588,10 +6465,8 @@ NCIT:C35816 Monoblastic Sarcoma NCIT:C80310 Monoclonal B-Cell Lymphocytosis NCIT:C157343 Monoclonal Gammopathy of Renal Significance NCIT:C7151 Monoclonal Immunoglobulin Deposition Disease -NCIT:C181652 Monoclonal Mast Cell Activation Syndrome NCIT:C36277 Monoclonal Polymorphic Post-Transplant Lymphoproliferative Disorder NCIT:C39936 Monodermal Testicular Teratoma -NCIT:C129739 Monogenic Diabetes NCIT:C131840 Monogenic Hyperinsulinism NCIT:C23130 Monomorphic Adenoma of the Mouse Salivary Glands NCIT:C7237 Monomorphic B-Cell Post-Transplant Lymphoproliferative Disorder @@ -6602,12 +6477,9 @@ NCIT:C7238 Monomorphic T/NK-Cell Post-Transplant Lymphoproliferative Disorder NCIT:C154504 Monomorphous Plurihormonal Pituitary Neuroendocrine Tumor NCIT:C181038 Monoplegia NCIT:C98993 Monosomy 13q Syndrome -NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 NCIT:C62592 Mood Alteration NCIT:C128714 Morbidly Adherent Placenta NCIT:C23001 Morphologic Variants of Diffuse Large B Cell Lymphoma of the Mouse Hematologic System -NCIT:C4075 Morton Neuroma -NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 NCIT:C35174 Mosquito-Borne Hemorrhagic Fever NCIT:C116943 Motor Developmental Delay NCIT:C34042 Mouse Acinar Cell Adenocarcinoma @@ -7076,7 +6948,6 @@ NCIT:C24107 Mouse Uterine Sarcoma NCIT:C30050 Mouse Yolk Sac Carcinoma NCIT:C7743 Mouth Mucous Membrane Leukoplakia NCIT:C27157 Mouth Sore -NCIT:C183312 Moyamoya Disease 2 NCIT:C107671 Mucin-Depleted Foci of the Mouse Intestinal Tract NCIT:C27379 Mucin-Producing Adenocarcinoma NCIT:C22154 Mucinous Adenocarcinoma of the Mouse Intestinal Tract @@ -7116,10 +6987,8 @@ NCIT:C129427 Multinodular and Vacuolated Neuronal Tumor NCIT:C186307 Multiorgan Venous and Lymphatic Defect Syndrome NCIT:C4135 Multiple Adenomatous Polyps NCIT:C168497 Multiple Congenital Anomalies -NCIT:C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 NCIT:C188257 Multiple Endocrine Neoplasia Type 5 NCIT:C27552 Multiple Lobular Capillary Hemangiomas -NCIT:C179648 Multiple Organ Dysfunction Syndrome NCIT:C53457 Multiple Osteochondromas NCIT:C5663 Multiple Pulmonary Hamartomas NCIT:C185035 Multiple Solitary Plasmacytoma of Bone @@ -7178,7 +7047,6 @@ NCIT:C84911 Myokymia NCIT:C9502 Myolipoma NCIT:C168339 Myopathy Secondary to Fatty Acid Oxidation Disorder NCIT:C168340 Myopathy Secondary to Glycogen Storage Disorder -NCIT:C157504 Myopathy due to Myoadenylate Deaminase Deficiency NCIT:C84913 Myotonic Disorder NCIT:C9398 Myxoid Chondrosarcoma NCI Grade 1 NCIT:C9399 Myxoid Chondrosarcoma NCI Grade 2 @@ -7227,7 +7095,6 @@ NCIT:C48316 Nasopharyngeal Paraganglioma NCIT:C173352 Nasopharyngeal Pituitary Neuroendocrine Tumor NCIT:C6034 Nasopharyngeal Polyp NCIT:C173341 Nasopharyngeal Salivary Gland Anlage Tumor -NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma NCIT:C6037 Nasopharyngeal Squamous Cell Papilloma NCIT:C128355 Native Valve Endocarditis NCIT:C82217 Natural Killer Cell Lymphoblastic Leukemia/Lymphoma @@ -7241,8 +7108,6 @@ NCIT:C61281 Necrotizing Arteritis NCIT:C22095 Necrotizing Enteritis of the Mouse Intestinal Tract NCIT:C114909 Necrotizing Enterocolitis Totalis NCIT:C117323 Necrotizing Funisitis -NCIT:C70635 Necrotizing Vasculitis -NCIT:C164225 Nemaline Myopathy 4 NCIT:C165542 Neoantigen-Positive Malignant Solid Neoplasm NCIT:C101028 Neonatal Aspiration of Amniotic Fluid NCIT:C116818 Neonatal Chemical Conjunctivitis @@ -7355,9 +7220,6 @@ NCIT:C6964 Neuroblastoma of the Adrenal Gland and Sympathetic Nervous System NCIT:C21979 Neuroblastomas of the Mouse Adrenal Gland and Sympathetic Nervous System NCIT:C175215 Neurocutaneous Melanosis NCIT:C84932 Neurocysticercosis -NCIT:C175707 Neurodegeneration with Brain Iron Accumulation 4 -NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 -NCIT:C89338 Neurodevelopmental Disorder NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects NCIT:C22150 Neuroendocrine Adenoma of the Mouse Intestinal Tract @@ -7401,7 +7263,6 @@ NCIT:C50674 Nipple Ulceration NCIT:C99991 No Cardiac Valve Regurgitation NCIT:C60316 No Proliferative Lesion Detected NCIT:C180516 No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma -NCIT:C171147 Nocardiosis NCIT:C141261 Nodal Marginal Zone Lymphoma by Ann Arbor Stage NCIT:C139005 Nodal Peripheral T-Cell Lymphoma of T Follicular Helper Cell Origin NCIT:C139011 Nodal Peripheral T-Cell Lymphoma with TFH Phenotype @@ -7447,7 +7308,6 @@ NCIT:C162973 Non-Invasive Cribriform Carcinoma NCIT:C95488 Non-Invasive Pancreatic Mucinous-Cystic Neoplasm NCIT:C65164 Non-Invasive Papillary Squamous Cell Carcinoma NCIT:C65181 Non-Invasive Papillary Transitional Cell Carcinoma -NCIT:C172208 Non-Involuting Congenital Hemangioma NCIT:C23071 Non-Keratinizing Carcinoma of the Mouse Pharynx NCIT:C23073 Non-Keratinizing Carcinoma of the Mouse Pharynx With Lymphoid Stroma NCIT:C23072 Non-Keratinizing Carcinoma of the Mouse Pharynx Without Lymphoid Stroma @@ -7590,26 +7450,10 @@ NCIT:C34628 Nonorganic Enuresis NCIT:C35421 Nonorganic Insomnia NCIT:C27095 Nonpigmented Nevus NCIT:C35100 Nonpsychotic Mental Disorder Following Organic Brain Damage -NCIT:C176938 Noonan Syndrome 10 -NCIT:C177119 Noonan Syndrome 11 -NCIT:C177120 Noonan Syndrome 12 -NCIT:C177121 Noonan Syndrome 13 -NCIT:C176930 Noonan Syndrome 2 -NCIT:C176931 Noonan Syndrome 3 -NCIT:C176932 Noonan Syndrome 4 -NCIT:C176933 Noonan Syndrome 5 -NCIT:C176934 Noonan Syndrome 6 -NCIT:C176935 Noonan Syndrome 7 -NCIT:C176936 Noonan Syndrome 8 -NCIT:C176937 Noonan Syndrome 9 -NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair -NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 -NCIT:C176940 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia NCIT:C35296 Nose Deformity NCIT:C115297 Nosocomial Pneumonia NCIT:C6486 Nuchal-Type Fibroma -NCIT:C135176 Nuclear Cataract NCIT:C135193 Nuclear Cataract Grade 1 NCIT:C135194 Nuclear Cataract Grade 2 NCIT:C135195 Nuclear Cataract Grade 3 @@ -7639,7 +7483,6 @@ NCIT:C158730 Ocular Graft Versus Host Disease NCIT:C174414 Ocular Melanocytosis NCIT:C176043 Ocular Surface Squamous Neoplasia NCIT:C116333 Oculo-Respiratory Syndrome -NCIT:C168731 Oculocutaneous Albinism Type 1A NCIT:C54317 Odontoameloblastoma NCIT:C173720 Odontogenic Carcinoma NCIT:C173735 Odontogenic Carcinosarcoma @@ -7647,7 +7490,6 @@ NCIT:C4314 Odontogenic Fibroma NCIT:C7452 Odontogenic Myxofibroma NCIT:C7501 Odontogenic Myxoma NCIT:C173738 Odontogenic Sarcoma -NCIT:C188215 Ogden Syndrome NCIT:C27919 Old Burn Scar-Related Cutaneous Melanoma NCIT:C27771 Old Burn Scar-Related Neoplasm NCIT:C27918 Old Burn Scar-Related Skin Squamous Cell Carcinoma @@ -7748,7 +7590,6 @@ NCIT:C6038 Oropharyngeal Squamous Cell Papilloma NCIT:C68610 Oropharyngeal Undifferentiated Carcinoma NCIT:C147906 Oropharyngeal p16INK4a-Negative Squamous Cell Carcinoma NCIT:C21693 Osseous Metaplastic Carcinoma of the Mouse Mammary Gland -NCIT:C173820 Ossifying Fibroma NCIT:C66774 Ossifying Renal Tumor of Infancy NCIT:C22962 Osteoblastoma of the Mouse Skeletal System, NOS NCIT:C34877 Osteochondritis @@ -7787,8 +7628,6 @@ NCIT:C21721 Other Non-Neoplastic Proliferation of the Mouse Prostate Gland NCIT:C21660 Other Non-neoplastic Proliferations of the Mouse Mammary Gland NCIT:C21822 Other Variants of Basaloid Follicular Neoplasm of the Mouse Skin NCIT:C157616 Other and Unspecified Infectious and Parasitic Diseases and their Sequelae -NCIT:C79601 Otitis Externa -NCIT:C185242 Otosclerosis NCIT:C43324 Outer Hair Sheath and Infundibulum Neoplasm NCIT:C126331 Ovarian Adenomatoid Tumor NCIT:C128106 Ovarian Cancer by AJCC v6 and v7 Stage @@ -7831,7 +7670,6 @@ NCIT:C40063 Ovarian Low Grade Endometrioid Stromal Sarcoma NCIT:C105556 Ovarian Low Grade Serous Adenocarcinoma NCIT:C4203 Ovarian Luteinized Thecoma NCIT:C126321 Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis -NCIT:C178441 Ovarian Melanoma NCIT:C179321 Ovarian Mesonephric-Like Adenocarcinoma NCIT:C179339 Ovarian Mixed Cell Adenocarcinoma NCIT:C7321 Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor @@ -7900,13 +7738,11 @@ NCIT:C7140 PRETEXT Stage 2 Hepatoblastoma NCIT:C7141 PRETEXT Stage 3 Hepatoblastoma NCIT:C7142 PRETEXT Stage 4 Hepatoblastoma NCIT:C153467 PTEN Deficiency -NCIT:C179915 PTEN Hamartoma Tumor Syndrome NCIT:C165477 PUVA Keratosis NCIT:C119048 Pain Amplification Syndrome NCIT:C8463 Palate Carcinoma NCIT:C6749 Palate Kaposi Sarcoma NCIT:C4649 Palate Squamous Cell Carcinoma -NCIT:C27177 Palmar-Plantar Erythrodysthesia NCIT:C4702 Palmoplantar Keratoderma with Leukoplakia NCIT:C95542 Pancreatic Acinar Cell Neoplasm NCIT:C67455 Pancreatic Alpha Cell Adenoma @@ -8034,7 +7870,6 @@ NCIT:C162489 Paratesticular Wilms Tumor NCIT:C6032 Parathyroid Chief Cell Hyperplasia NCIT:C6033 Parathyroid Clear Cell Hyperplasia NCIT:C27346 Parathyroid Gland Abscess -NCIT:C156757 Parathyroid Gland Adenoma NCIT:C48283 Parathyroid Gland Lipoadenoma NCIT:C34894 Paratyphoid Fever A NCIT:C34895 Paratyphoid Fever B @@ -8066,7 +7901,6 @@ NCIT:C80391 Paroxysmal Atrial Fibrillation NCIT:C34900 Paroxysmal Atrial Tachycardia NCIT:C27643 Partial Hearing Loss NCIT:C172016 Partial Neonatal Hearing Loss -NCIT:C172209 Partially Involuting Congenital Hemangioma NCIT:C35791 Passive-Aggressive Behavior NCIT:C34904 Passive-Aggressive Personality Disorder NCIT:C137662 Pathologic Stage 0 Cutaneous Melanoma AJCC v8 @@ -8240,7 +8074,6 @@ NCIT:C97065 Periosteal Desmoid Tumor NCIT:C66761 Periosteal Fibroma NCIT:C66763 Periosteal Fibrosarcoma NCIT:C22959 Periosteal Osteosarcoma of the Mouse Skeletal System -NCIT:C171602 Peripartum Cardiomyopathy NCIT:C78533 Peripheral Arterial Occlusive Disease NCIT:C157450 Peripheral Hemangioblastoma NCIT:C5320 Peripheral Intraneural Angiosarcoma @@ -8270,22 +8103,15 @@ NCIT:C179656 Peritoneal Sarcomatosis NCIT:C27664 Peritoneal and Retroperitoneal Disorder NCIT:C7337 Peritoneal and Retroperitoneal Neoplasm NCIT:C27316 Permanent Spinal Nerve Paralysis -NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency -NCIT:C155747 Peroxisome Biogenesis Disorder NCIT:C155748 Peroxisome Biogenesis Disorder 1A -NCIT:C155749 Peroxisome Biogenesis Disorder 1B NCIT:C155750 Peroxisome Biogenesis Disorder 2A -NCIT:C155751 Peroxisome Biogenesis Disorder 2B NCIT:C155753 Peroxisome Biogenesis Disorder 3B NCIT:C155760 Peroxisome Biogenesis Disorder 7A -NCIT:C155761 Peroxisome Biogenesis Disorder 7B NCIT:C155762 Peroxisome Biogenesis Disorder 8A -NCIT:C155763 Peroxisome Biogenesis Disorder 8B NCIT:C94386 Persecutory Type Delusional Disorder NCIT:C186234 Persistent Atrioventricular Canal NCIT:C99014 Persistent Cloaca NCIT:C161553 Persistent Hyaloid Vessels -NCIT:C161554 Persistent Hyperplastic Primary Vitreous NCIT:C120189 Persistent Mullerian Duct Syndrome Type I NCIT:C120190 Persistent Mullerian Duct Syndrome Type II NCIT:C119040 Persistent Oligoarticular Juvenile Idiopathic Arthritis @@ -8305,7 +8131,6 @@ NCIT:C178521 Pharyngeal Melanoma NCIT:C78553 Pharyngeal Mucositis NCIT:C173355 Pharyngeal Non-Hodgkin Lymphoma NCIT:C127823 Pharyngocutaneous Fistula -NCIT:C157124 Phelan-McDermid Syndrome NCIT:C27361 Philadelphia Chromosome Negative BCR-ABL1 Negative Chronic Myelogenous Leukemia NCIT:C9129 Philadelphia Chromosome Negative, BCR-ABL1 Positive Chronic Myelogenous Leukemia NCIT:C9128 Philadelphia Chromosome Positive, BCR-ABL1 Positive Chronic Myelogenous Leukemia @@ -8321,7 +8146,6 @@ NCIT:C21129 Physical Dependence NCIT:C21654 Physiological Diffuse Hyperplasia of the Mouse Mammary Gland NCIT:C21710 Physiological Diffuse Hyperplasia of the Mouse Prostate Gland NCIT:C21716 Physiological Focal Hyperplasia of the Mouse Prostate Gland -NCIT:C187288 Pigment Dispersion Syndrome NCIT:C4164 Pigmented Adrenal Cortical Adenoma NCIT:C165498 Pigmented Epithelioid Melanocytoma NCIT:C27816 Pigmented Nevus @@ -8425,11 +8249,9 @@ NCIT:C45660 Pleural Well Differentiated Papillary Mesothelial Tumor NCIT:C6493 Plexiform Fibrohistiocytic Tumor NCIT:C45916 Plurihormonal Pituitary Neuroendocrine Tumor NCIT:C154505 Plurimorphous Plurihormonal Pituitary Neuroendocrine Tumor -NCIT:C157958 Pneumococcal Meningitis NCIT:C157959 Pneumococcal Pneumonia NCIT:C134962 Poeciliopsis Lucida Hepatocellular Carcinoma NCIT:C53975 Poikiloderma -NCIT:C177535 Poikiloderma with Neutropenia NCIT:C66801 Polar Spongioblastoma NCIT:C119033 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative NCIT:C61280 Polyarticular Still Disease @@ -8539,7 +8361,6 @@ NCIT:C7145 Postsurgical Stage II Hepatoblastoma NCIT:C7144 Postsurgical Stage III Hepatoblastoma NCIT:C7143 Postsurgical Stage IV Hepatoblastoma NCIT:C50705 Posttraumatic Wound Infection -NCIT:C85020 Postural Orthostatic Tachycardia Syndrome NCIT:C98899 Postural Scoliosis NCIT:C27261 Pre T-ALL NCIT:C27798 Pre-B Acute Lymphoblastic Leukemia @@ -8574,7 +8395,6 @@ NCIT:C173811 Primary Bone Diffuse Large B-Cell Lymphoma NCIT:C181207 Primary Bone Hodgkin Lymphoma NCIT:C121930 Primary Bone Non-Hodgkin Lymphoma NCIT:C4834 Primary Bone Osteosarcoma -NCIT:C170814 Primary Brain Neoplasm NCIT:C4975 Primary Brain Stem Neoplasm NCIT:C176251 Primary Breast Angiosarcoma NCIT:C178476 Primary Central Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1 @@ -8582,11 +8402,6 @@ NCIT:C7155 Primary Central Chondrosarcoma NCIT:C102871 Primary Central Nervous System Neoplasm NCIT:C175464 Primary Choroidal Non-Hodgkin Lymphoma NCIT:C175466 Primary Ciliary Body Non-Hodgkin Lymphoma -NCIT:C128117 Primary Ciliary Dyskinesia 1 -NCIT:C148370 Primary Ciliary Dyskinesia 14 -NCIT:C155999 Primary Ciliary Dyskinesia 15 -NCIT:C172393 Primary Ciliary Dyskinesia 29 -NCIT:C172392 Primary Ciliary Dyskinesia 3 NCIT:C123113 Primary Collapsing Glomerulopathy NCIT:C139023 Primary Cutaneous Acral CD8-Positive T-Cell Lymphoma NCIT:C6858 Primary Cutaneous B-Cell Non-Hodgkin Lymphoma @@ -8747,8 +8562,6 @@ NCIT:C27615 Prostatic Infection NCIT:C21728 Prostatic Intraepithelial Neoplasia of the Mouse Prostate Gland NCIT:C128356 Prosthetic Valve Endocarditis NCIT:C50709 Prosthetic Valve Thrombosis -NCIT:C176619 Proteasome-Associated Autoinflammatory Syndrome 1 -NCIT:C179930 Proteus-Like Syndrome NCIT:C165628 Proximal Gastric Adenocarcinoma NCIT:C114477 Proximal Tubulopathy NCIT:C115334 Proximal Urethral Carcinoma @@ -8773,7 +8586,6 @@ NCIT:C6746 Pulmonary Artery Angiosarcoma NCIT:C142825 Pulmonary Artery Intimal Sarcoma NCIT:C99030 Pulmonary Artery Stenosis NCIT:C78577 Pulmonary Fistula -NCIT:C99035 Pulmonary Hypoplasia NCIT:C51447 Pulmonary Insufficiency NCIT:C45607 Pulmonary Lymphomatoid Granulomatosis NCIT:C7435 Pulmonary Precancerous Condition @@ -8786,7 +8598,6 @@ NCIT:C62436 Pulmonary Valvular Insufficiency NCIT:C35531 Pulmonary Vascular Disorder NCIT:C43277 Pure Cutaneous Mastocytosis NCIT:C7467 Pure Erythroid Leukemia -NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency NCIT:C50719 Pyogenic Infection NCIT:C45692 Pyothorax NCIT:C45691 Pyothorax-Associated Lymphoma @@ -8840,7 +8651,6 @@ NCIT:C93125 Radiation-Related Sarcoma NCIT:C174377 Radiculoneuropathy NCIT:C134573 Rainbow Trout Hepatoma NCIT:C136977 Rainbow Trout Mesothelioma -NCIT:C172207 Rapidly Involuting Congenital Hemangioma NCIT:C35561 Rare Neoplastic Syndrome NCIT:C53543 Rare Non-Neoplastic Disorder NCIT:C63820 Rat Acanthomatous Ameloblastoma @@ -9155,7 +8965,6 @@ NCIT:C125715 Recurrent Acute Myeloid Leukemia with Myelodysplasia-Related Change NCIT:C156718 Recurrent Acute Myeloid Leukemia with Recurrent Genetic Abnormalities NCIT:C156719 Recurrent Acute Myeloid Leukemia with t (9;11) (p21.3; q23.3); MLLT3-MLL NCIT:C156717 Recurrent Acute Myelomonocytic Leukemia -NCIT:C184324 Recurrent Acute Pancreatitis NCIT:C169107 Recurrent Acute Promyelocytic Leukemia with PML-RARA NCIT:C141446 Recurrent Acute Undifferentiated Leukemia NCIT:C162612 Recurrent Adamantinomatous Craniopharyngioma @@ -9841,7 +9650,6 @@ NCIT:C160915 Refractory Anaplastic Ganglioglioma NCIT:C8658 Refractory Anaplastic Large Cell Lymphoma NCIT:C169074 Refractory Anaplastic Oligodendroglioma NCIT:C160905 Refractory Anaplastic Pleomorphic Xanthoastrocytoma -NCIT:C2872 Refractory Anemia NCIT:C8671 Refractory Angioimmunoblastic T-Cell Lymphoma NCIT:C179178 Refractory Appendix Adenocarcinoma NCIT:C179177 Refractory Appendix Carcinoma @@ -10246,7 +10054,6 @@ NCIT:C4228 Regressing Melanoma NCIT:C7603 Regressing Nevus NCIT:C7090 Regressing Non-Cutaneous Melanoma NCIT:C34975 Reiter Syndrome -NCIT:C165675 Relapsing-Remitting Multiple Sclerosis NCIT:C117322 Remote Placental Infarction NCIT:C123017 Renal Abscess NCIT:C114844 Renal Allograft Thrombosis @@ -10276,7 +10083,6 @@ NCIT:C5388 Renal Vein Leiomyosarcoma NCIT:C99042 Renal Vein Thrombosis NCIT:C174186 Renal and Perinephric Abscess NCIT:C5100 Renomedullary Interstitial Cell Tumor -NCIT:C165533 Renpenning Syndrome NCIT:C176696 Repeat Expansion Disease NCIT:C7335 Reproductive Endocrine Neoplasm NCIT:C170962 Resectable Adenocarcinoma of Unknown Primary @@ -10344,7 +10150,6 @@ NCIT:C35479 Retinal Arteriovenous Malformation/Hemangioma NCIT:C174539 Retinal Astrocytoma NCIT:C26968 Retinal Defect NCIT:C26967 Retinal Detachment and Defect -NCIT:C26875 Retinal Disorder NCIT:C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies NCIT:C124578 Retinal Fold @@ -10368,9 +10173,6 @@ NCIT:C136811 Retroperitoneal Sarcoma by AJCC v8 Stage NCIT:C173808 Retroperitoneal Undifferentiated Pleomorphic Sarcoma NCIT:C128324 Retropharyngeal Abscess NCIT:C162825 Retropharyngeal Neoplasm -NCIT:C176903 Rett Syndrome, Congenital Variant -NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 -NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 NCIT:C22039 Rhabdomyoma of the Mouse Nervous System NCIT:C24161 Rhabdomyosarcoma of the Mouse Gallbladder NCIT:C22040 Rhabdomyosarcoma of the Mouse Nervous System @@ -10390,12 +10192,9 @@ NCIT:C175706 Ring Chromosome 18 Syndrome NCIT:C186278 Ring Chromosome 21 Syndrome NCIT:C179702 Ring Chromosome 22 Syndrome NCIT:C175705 Ring Chromosome 8 Syndrome -NCIT:C188150 Robertsonian Translocation Down Syndrome NCIT:C35412 Rodent-Borne Hemorrhagic Fever NCIT:C67559 Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle NCIT:C157973 Rotaviral Enteritis -NCIT:C178826 Rothmund-Thomson Syndrome Type 1 -NCIT:C178827 Rothmund-Thomson Syndrome Type 2 NCIT:C9401 Round Cell Liposarcoma NCI Grade 2 NCIT:C9402 Round Cell Liposarcoma NCI Grade 3 NCIT:C178460 Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion @@ -10469,8 +10268,6 @@ NCIT:C35836 Salivary Gland Sialadenoma Papilliferum NCIT:C35837 Salivary Gland Sialoblastoma NCIT:C8024 Salivary Gland Undifferentiated Carcinoma NCIT:C171146 Salmonella Septicemia -NCIT:C157974 Salmonellosis -NCIT:C171201 Salpingo-Oophoritis NCIT:C131134 Salt-Wasting 21-Hydroxylase Deficiency NCIT:C9388 Sarcoma NCI Grade 1 NCIT:C9400 Sarcoma NCI Grade 2 @@ -10588,7 +10385,6 @@ NCIT:C161634 Seminal Vesicle Squamous Cell Carcinoma NCIT:C34524 Senile Dementia NCIT:C4393 Senile Nevus NCIT:C27952 Senile Sebaceous Hyperplasia -NCIT:C168588 Senior-Loken Syndrome NCIT:C63711 Sensory Disorder NCIT:C26973 Sensory Hearing Loss NCIT:C3364 Septicemia @@ -10601,7 +10397,6 @@ NCIT:C126449 Serous Tubal Intraepithelial Carcinoma NCIT:C179738 Serous Tubal Intraepithelial Lesion NCIT:C107673 Serrated Lesion of the Mouse Intestinal Tract NCIT:C96414 Serrated Lesions and Polyps -NCIT:C168988 Sertoli Cell-Only Syndrome NCIT:C22119 Sessile Adenoma of the Mouse Intestinal Tract NCIT:C22120 Sessile Tubular Adenoma of the Mouse Intestinal Tract NCIT:C22126 Sessile Tubulovillous Adenoma of the Mouse Intestinal Tract @@ -10621,7 +10416,6 @@ NCIT:C61239 Severe Combined Immunodeficiency with Absence of T, Normal B Cells NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type NCIT:C176804 Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive NCIT:C176807 Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative -NCIT:C166152 Severe Congenital Neutropenia NCIT:C176827 Severe Congenital Neutropenia Type 1, Autosomal Dominant NCIT:C176610 Severe Congenital Neutropenia Type 2, Autosomal Dominant NCIT:C166153 Severe Congenital Neutropenia Type 3, Autosomal Recessive @@ -10639,14 +10433,11 @@ NCIT:C94338 Sexual Aversion Disorder NCIT:C157977 Sexually Transmitted Chlamydial Disease NCIT:C165546 Shared Neoantigen-Positive Malignant Solid Neoplasm NCIT:C94391 Shared Psychotic Disorder -NCIT:C172320 Shellfish Allergy NCIT:C95075 Shift Work Type Circadian Rhythm Sleep Disorder -NCIT:C157978 Shigellosis NCIT:C92206 Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome NCIT:C101041 Short Segment Hirschsprung Disease NCIT:C120113 Short Stature Homeobox Deficiency NCIT:C176389 Short Supernumerary Rib -NCIT:C26882 Sialadenitis NCIT:C127828 Sialocele NCIT:C173682 Sialolipoma NCIT:C70647 Sicca Syndrome @@ -10771,7 +10562,6 @@ NCIT:C172632 Skin Myxofibrosarcoma NCIT:C6578 Skin Myxoma NCIT:C62282 Skin Nodular Basal Cell Carcinoma NCIT:C5616 Skin Nodular Solid Basal Cell Carcinoma -NCIT:C34557 Skin Pigmentation Disorder NCIT:C170476 Skin Pleomorphic Lipoma NCIT:C170473 Skin Pleomorphic Liposarcoma NCIT:C27719 Skin Radiation-Related Angiosarcoma @@ -10922,7 +10712,6 @@ NCIT:C155948 Spinal Hemangioblastoma NCIT:C156310 Spinal Muscular Atrophy Type 2 NCIT:C85076 Spinal Muscular Atrophy of Childhood NCIT:C168693 Spinal Neoplasm -NCIT:C177444 Spinal Stenosis NCIT:C35626 Spinal Vascular Disorder NCIT:C21745 Spindle Cell / Sarcomatoid Carcinoma of the Mouse Prostate Gland NCIT:C22936 Spindle Cell Hemangioendothelioma of the Mouse Blood Vessel @@ -10935,10 +10724,6 @@ NCIT:C7180 Spindle Cell/Pleomorphic Lipoma NCIT:C121654 Spindle Cell/Sclerosing Rhabdomyosarcoma NCIT:C43333 Spindle-Cell Predominant Trichodiscoma NCIT:C21810 Spindle-cell Squamous Cell Carcinoma of the Mouse Skin -NCIT:C179861 Spinocerebellar Ataxia Type 17 -NCIT:C163756 Spinocerebellar Ataxia Type 19/22 -NCIT:C176901 Spinocerebellar Ataxia Type 31 -NCIT:C165500 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 NCIT:C167344 Spiradenocylindrocarcinoma NCIT:C167342 Spiradenocylindroma NCIT:C21820 Spiradenoma Type of Basaloid Follicular Neoplasm of the Mouse Skin @@ -12919,7 +12704,6 @@ NCIT:C147114 Steroid Refractory Graft Versus Host Disease NCIT:C168582 Steroid Resistant Acute Graft Versus Host Disease NCIT:C168540 Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease NCIT:C156671 Steroid-Refractory Pneumonitis -NCIT:C168733 Stickler Syndrome Type 1 NCIT:C61278 Still Disease NCIT:C78629 Stoma Site Infection NCIT:C9405 Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCI Grade 2 @@ -12934,7 +12718,6 @@ NCIT:C99538 Structural Heart Abnormality NCIT:C4292 Strumal Carcinoid NCIT:C34923 Stump Hallucination NCIT:C117321 Subacute Placental Infarction -NCIT:C35071 Subacute Thyroiditis NCIT:C35185 Subchronic Schizophrenia NCIT:C50758 Subclinical Infection NCIT:C157995 Subcutaneous Disorder @@ -13001,7 +12784,6 @@ NCIT:C35050 Surgical Wound Infection NCIT:C101273 Suspected Necrotizing Enterocolitis NCIT:C3682 Sweat Gland Tubular Carcinoma NCIT:C85178 Swyer James Syndrome -NCIT:C168445 Sydenham Chorea NCIT:C171549 Symptomatic COVID-19 Infection Laboratory-Confirmed NCIT:C176467 Synovial Chondrosarcoma NCIT:C23059 Synovial Neoplasms of the Mouse Oral Cavity @@ -13049,9 +12831,7 @@ NCIT:C68689 TdT Positive Acute Lymphoblastic Leukemia NCIT:C180407 Tectal Glioma NCIT:C35063 Teething Syndrome NCIT:C22952 Telangiectatic Osteosarcoma of the Mouse Skeletal System -NCIT:C152065 Telomere Syndrome NCIT:C156036 Temporal Lobe Anaplastic Astrocytoma -NCIT:C177244 Temporal Lobe Epilepsy NCIT:C156042 Temporal Lobe Pleomorphic Xanthoastrocytoma NCIT:C22067 Teratoma of the Mouse Nervous System NCIT:C22070 Teratoma of the Mouse Nervous System with Malignant Transformation @@ -13123,7 +12903,6 @@ NCIT:C124587 Thoracoschisis NCIT:C168454 Thoracotomy Scar NCIT:C100020 Three Vessel Coronary Disease NCIT:C35506 Throat Carcinoma -NCIT:C176617 Thrombocytopenia 1 NCIT:C28195 Thromboembolism NCIT:C180553 Thrombotic Disorder NCIT:C98897 Thumb Hypoplasia @@ -13137,7 +12916,6 @@ NCIT:C136320 Thymic Epithelial Neoplasm by AJCC v8 Stage NCIT:C146717 Thymic Hepatoid Adenocarcinoma NCIT:C95057 Thymic Hodgkin Lymphoma NCIT:C45380 Thymic Mucosa-Associated Lymphoid Tissue Lymphoma -NCIT:C171031 Thymic Neuroendocrine Carcinoma NCIT:C162460 Thymic Neuroendocrine Neoplasm NCIT:C45720 Thymic Typical Carcinoid Tumor NCIT:C95038 Thymoliposarcoma @@ -13224,7 +13002,6 @@ NCIT:C171028 Tongue Adenoid Cystic Carcinoma NCIT:C173807 Tongue Adenosquamous Carcinoma NCIT:C156273 Tongue Alveolar Soft Part Sarcoma' NCIT:C4824 Tongue Carcinoma -NCIT:C173793 Tongue Disorder NCIT:C7734 Tongue Lipoma NCIT:C173404 Tongue Liposarcoma NCIT:C181160 Tongue Mucoepidermoid Carcinoma @@ -13238,13 +13015,11 @@ NCIT:C35475 Tooth Abscess NCIT:C78639 Tooth Infection NCIT:C118306 Tooth Malformation NCIT:C27755 Topoisomerase II Inhibitor-Related Acute Myeloid Leukemia -NCIT:C156361 Torsion Dystonia 6 NCIT:C101040 Total Colonic Aganglionosis NCIT:C116766 Tourettism NCIT:C172040 Toxic Anterior Segment Syndrome NCIT:C110936 Toxic Methemoglobinemia with Cyanosis NCIT:C27063 Toxic Polyneuropathy -NCIT:C85194 Toxocariasis NCIT:C35396 Toxoplasma Pneumonia NCIT:C3688 Trabecular Adenoma NCIT:C35754 Tracheal Atresia @@ -13323,10 +13098,6 @@ NCIT:C43328 Trichoepithelial Carcinoma NCIT:C21817 Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin NCIT:C43329 Trichofollicular Carcinoma NCIT:C21818 Trichofolliculoma Type of Basaloid Follicular Neoplasm of the Mouse Skin -NCIT:C156433 Trichothiodystrophy 1, Photosensitive -NCIT:C173103 Trichothiodystrophy 2, Photosensitive -NCIT:C173099 Trichothiodystrophy 3, Photosensitive -NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive NCIT:C50843 Tricuspid Valve Regurgitation NCIT:C85203 Trigger Finger Disorder NCIT:C35710 Triple A Syndrome @@ -13393,9 +13164,6 @@ NCIT:C27756 Typical Acute Promyelocytic Leukemia NCIT:C39964 Typical Ovarian Thecoma NCIT:C126293 UNC13D Deficiency NCIT:C99104 UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency -NCIT:C173106 UV-Sensitive Syndrome 1 -NCIT:C173110 UV-Sensitive Syndrome 2 -NCIT:C173107 UV-Sensitive Syndrome 3 NCIT:C4694 Ulcerated Oral Leukoplakia NCIT:C22111 Ulceration of the Mouse Intestinal Tract NCIT:C122413 Ulcerative Colitis Flare @@ -13737,7 +13505,6 @@ NCIT:C118754 Uveal Prolapse NCIT:C7987 Uveal Spindle Cell Type A Melanoma NCIT:C7988 Uveal Spindle Cell Type B Melanoma NCIT:C50794 Uveitis Glaucoma and Hyphema Syndrome -NCIT:C181924 VEXAS Syndrome NCIT:C113671 Vaccine-Associated Paralytic Poliomyelitis NCIT:C35523 Vaginal Abscess NCIT:C180947 Vaginal Adenocarcinoma of Skene Gland Origin @@ -13776,7 +13543,6 @@ NCIT:C40263 Vaginal Small Cell Neuroendocrine Carcinoma NCIT:C181940 Vaginal Smooth Muscle Tumor of Uncertain Malignant Potential NCIT:C40265 Vaginal Soft Tissue Neoplasm NCIT:C181936 Vaginal Solitary Fibrous Tumor -NCIT:C180915 Vaginal Squamous Cell Carcinoma NCIT:C128079 Vaginal Superficial Myofibroblastoma NCIT:C128061 Vaginal Tubulosquamous Polyp NCIT:C40264 Vaginal Undifferentiated Carcinoma @@ -13797,7 +13563,6 @@ NCIT:C23081 Vascular-fibrous Neoplasms of the Mouse Pharynx NCIT:C122412 Vaso-Occlusive Crisis NCIT:C181762 Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease NCIT:C181761 Vaso-Occlusive Crisis in Sickle Cell-SS Disease -NCIT:C35279 Vein Disorder NCIT:C98642 Vein of Galen Malformation NCIT:C36196 Vena Cava Occlusion NCIT:C159323 Vena Cava Thrombosis @@ -13904,7 +13669,6 @@ NCIT:C128295 Vulvar Yolk Sac Tumor NCIT:C177797 WHO Grade 1 Glioma NCIT:C184991 Waisman Syndrome NCIT:C135002 Walleye Dermal Sarcoma -NCIT:C164675 Warsaw Breakage Syndrome NCIT:C23132 Warthin's Tumor of the Mouse Salivary Glands NCIT:C126409 Warthin-Like Variant Thyroid Gland Papillary Carcinoma NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome @@ -13929,8 +13693,6 @@ NCIT:C21807 Well-differentiated Squamous Cell Carcinoma of the Mouse Skin NCIT:C45700 Widely Invasive Thymoma NCIT:C165597 Williams-Beuren Region Duplication Syndrome NCIT:C131006 Wilms Tumor 1 Gene Syndromes -NCIT:C170731 Winchester Syndrome -NCIT:C176820 Wiskott-Aldrich Syndrome 2 NCIT:C41341 Withdrawal NCIT:C131078 Wolff-Chaikoff Phenomenon NCIT:C124251 Woodchuck Hepatocellular Carcinoma @@ -13938,19 +13700,14 @@ NCIT:C45234 Wound Infection NCIT:C173469 X-Linked Cardiac Valvular Dysplasia NCIT:C180844 X-Linked Deafness-4 NCIT:C180843 X-Linked Deafness-5, with Peripheral Neuropathy -NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets -NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia NCIT:C172807 X-Linked Protoporphyria NCIT:C154315 X-linked Chronic Granulomatous Disease NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 -NCIT:C173111 XFE Progeroid Syndrome NCIT:C85210 XO Syndrome NCIT:C85236 XXXY and XXXXY Syndrome NCIT:C134574 Xenopus Neoplasm NCIT:C35134 Xeroderma -NCIT:C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex NCIT:C134575 Xiphophorus Melanoma -NCIT:C177544 Xq25 Microduplication Syndrome NCIT:C185244 Y-Linked Spermatogenic Failure-2 NCIT:C176704 YARSopathy NCIT:C64001 Yolk Sac Carcinoma of the Rat Ovary diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index bc03db47..a080a8f3 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -2,99 +2,48 @@ mondo_id source_id source ID ID A oboInOwl:source MONDO:0000911 OMIM:613740 MONDO:equivalentObsolete MONDO:0007061 OMIM:102590 MONDO:equivalentObsolete -MONDO:0007418 OMIM:124400 MONDO:equivalentObsolete MONDO:0007602 OMIM:134700 MONDO:equivalentObsolete -MONDO:0007617 OMIM:609943 MONDO:equivalentObsolete -MONDO:0007617 OMIM:614562 MONDO:equivalentObsolete MONDO:0007659 OMIM:137560 MONDO:equivalentObsolete -MONDO:0007779 OMIM:145410 MONDO:equivalentObsolete MONDO:0007801 OMIM:146400 MONDO:equivalentObsolete -MONDO:0007818 OMIM:146840 MONDO:equivalentObsolete -MONDO:0007903 OMIM:609266 MONDO:equivalentObsolete MONDO:0008074 OMIM:162020 MONDO:equivalentObsolete MONDO:0008091 OMIM:162820 MONDO:equivalentObsolete MONDO:0008126 OMIM:164891 MONDO:equivalentObsolete MONDO:0008204 OMIM:168850 MONDO:equivalentObsolete -MONDO:0008289 OMIM:607595 MONDO:equivalentObsolete MONDO:0008409 OMIM:181430 MONDO:equivalentObsolete MONDO:0008415 OMIM:181515 MONDO:equivalentObsolete MONDO:0008448 OMIM:182920 MONDO:equivalentObsolete -MONDO:0008490 OMIM:277610 MONDO:equivalentObsolete -MONDO:0008523 OMIM:609464 MONDO:equivalentObsolete -MONDO:0008774 OMIM:245130 MONDO:equivalentObsolete -MONDO:0008885 OMIM:603463 MONDO:equivalentObsolete -MONDO:0009194 OMIM:614894 MONDO:equivalentObsolete -MONDO:0009302 OMIM:233430 MONDO:equivalentObsolete -MONDO:0009307 OMIM:233670 MONDO:equivalentObsolete MONDO:0009535 OMIM:247440 MONDO:equivalentObsolete MONDO:0009654 OMIM:252700 MONDO:equivalentObsolete -MONDO:0009679 OMIM:253900 MONDO:equivalentObsolete MONDO:0010045 OMIM:270710 MONDO:equivalentObsolete -MONDO:0010205 OMIM:278100 MONDO:equivalentObsolete -MONDO:0010258 OMIM:300987 MONDO:equivalentObsolete MONDO:0010291 OMIM:300274 MONDO:equivalentObsolete -MONDO:0010295 OMIM:300301 MONDO:equivalentObsolete -MONDO:0010327 OMIM:300220 MONDO:equivalentObsolete MONDO:0010340 OMIM:300494 MONDO:equivalentObsolete MONDO:0010343 OMIM:300497 MONDO:equivalentObsolete MONDO:0010346 OMIM:300504 MONDO:equivalentObsolete MONDO:0010357 OMIM:300551 MONDO:equivalentObsolete -MONDO:0010368 OMIM:300584 MONDO:equivalentObsolete MONDO:0010387 OMIM:300640 MONDO:equivalentObsolete MONDO:0010394 OMIM:300660 MONDO:equivalentObsolete MONDO:0010470 OMIM:300881 MONDO:equivalentObsolete MONDO:0010527 OMIM:301590 MONDO:equivalentObsolete -MONDO:0010600 OMIM:138990 MONDO:equivalentObsolete MONDO:0010601 OMIM:306500 MONDO:equivalentObsolete MONDO:0010666 OMIM:309605 MONDO:equivalentObsolete -MONDO:0010720 OMIM:307300 MONDO:equivalentObsolete -MONDO:0010720 OMIM:312100 MONDO:equivalentObsolete MONDO:0010804 OMIM:600048 MONDO:equivalentObsolete MONDO:0010859 OMIM:600309 MONDO:equivalentObsolete -MONDO:0010911 OMIM:600634 MONDO:equivalentObsolete -MONDO:0010936 OMIM:614696 MONDO:equivalentObsolete -MONDO:0010957 OMIM:600908 MONDO:equivalentObsolete MONDO:0010975 OMIM:600996 MONDO:equivalentObsolete MONDO:0011111 OMIM:601563 MONDO:equivalentObsolete -MONDO:0011362 OMIM:607569 MONDO:equivalentObsolete -MONDO:0011401 OMIM:611155 MONDO:equivalentObsolete MONDO:0011543 OMIM:605365 MONDO:equivalentObsolete -MONDO:0011806 OMIM:609143 MONDO:equivalentObsolete -MONDO:0011835 OMIM:613832 MONDO:equivalentObsolete MONDO:0011910 OMIM:607801 MONDO:equivalentObsolete -MONDO:0011939 OMIM:271550 MONDO:equivalentObsolete -MONDO:0012017 OMIM:608355 MONDO:equivalentObsolete -MONDO:0012215 OMIM:159000 MONDO:equivalentObsolete -MONDO:0012247 OMIM:609307 MONDO:equivalentObsolete MONDO:0012279 OMIM:609456 MONDO:equivalentObsolete MONDO:0012461 OMIM:610269 MONDO:equivalentObsolete MONDO:0012560 OMIM:610799 MONDO:equivalentObsolete -MONDO:0012853 OMIM:233500 MONDO:equivalentObsolete -MONDO:0012878 OMIM:612359 MONDO:equivalentObsolete -MONDO:0013476 OMIM:613875 MONDO:equivalentObsolete MONDO:0013596 OMIM:614157 MONDO:equivalentObsolete MONDO:0013617 OMIM:614192 MONDO:equivalentObsolete MONDO:0013701 OMIM:614339 MONDO:equivalentObsolete -MONDO:0013736 OMIM:614408 MONDO:equivalentObsolete -MONDO:0013753 OMIM:608591 MONDO:equivalentObsolete -MONDO:0014045 OMIM:615106 MONDO:equivalentObsolete -MONDO:0014089 OMIM:616964 MONDO:equivalentObsolete -MONDO:0014243 OMIM:208080 MONDO:equivalentObsolete -MONDO:0014353 OMIM:216920 MONDO:equivalentObsolete -MONDO:0014806 OMIM:271225 MONDO:equivalentObsolete MONDO:0014849 OMIM:616958 MONDO:equivalentObsolete -MONDO:0015912 OMIM:153640 MONDO:equivalentObsolete -MONDO:0015912 OMIM:600208 MONDO:equivalentObsolete -MONDO:0015912 OMIM:605249 MONDO:equivalentObsolete MONDO:0017996 OMIM:615057 MONDO:equivalentObsolete MONDO:0018138 OMIM:103470 MONDO:equivalentObsolete MONDO:0019348 OMIM:300537 MONDO:equivalentObsolete MONDO:0020668 OMIM:600146 MONDO:equivalentObsolete -MONDO:0021569 OMIM:159001 MONDO:equivalentObsolete MONDO:0023873 OMIM:163955 MONDO:equivalentObsolete MONDO:0024293 OMIM:175020 MONDO:equivalentObsolete MONDO:0024996 OMIM:276905 MONDO:equivalentObsolete MONDO:0027416 OMIM:601251 MONDO:equivalentObsolete -MONDO:0030914 OMIM:300602 MONDO:equivalentObsolete -MONDO:0033613 OMIM:603513 MONDO:equivalentObsolete -MONDO:0100255 OMIM:611094 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index dcb6010d..2df9c29e 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,36 +1,29 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to False False False -OMIM:180295 rhabdomyosarcoma, embryonal, 2 False False False +OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant False False False OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to False False False -OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies False False False OMIM:301069 chromosome xq13 duplication syndrome False False False OMIM:301071 thrombophilia, x-linked, due to factor 8 defect False False False OMIM:301080 systemic lupus erythematosus 17 False False False OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features False False False OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked False False False -OMIM:301095 intellectual developmental disorder, X-linked 110 False False False OMIM:301099 spermatogenic failure, x-linked, 5 False False False OMIM:301101 spermatogenic failure, x-linked, 6 False False False +OMIM:606215 atrioventricular septal defect False False False +OMIM:606963 pulmonary disease, chronic obstructive False False False OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 False False False OMIM:619268 alzahrani-kuwahara syndrome False False False OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia False False False OMIM:619290 mahvash disease False False False OMIM:619293 blepharophimosis-impaired intellectual development syndrome False False False -OMIM:619297 kinsship syndrome False False False OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia False False False OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome False False False OMIM:619312 radio-tartaglia syndrome False False False OMIM:619314 buratti-harel syndrome False False False -OMIM:619318 oculogastrointestinal neurodevelopmental syndrome False False False OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies False False False -OMIM:619322 marbach-rustad progeroid syndrome False False False OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth False False False OMIM:619324 hypertriglyceridemia 2 False False False -OMIM:619326 bdv syndrome False False False OMIM:619329 fibromuscular dysplasia, multifocal False False False OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction False False False -OMIM:619338 cataracts, spastic paraparesis, and speech delay False False False -OMIM:619339 bartsocas-papas syndrome 2 False False False OMIM:619343 chromosome 1p36 deletion syndrome, proximal False False False OMIM:619345 dysostosis multiplex, ain-naz iia False False False OMIM:619350 visceral myopathy 2 False False False @@ -103,13 +96,10 @@ OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant Fa OMIM:619719 intellectual disability and myopathy syndrome False False False OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities False False False OMIM:619727 craniotubular dysplasia, ikegawa iia False False False -OMIM:619733 inclusion body myopathy and brain white matter abnormalities False False False -OMIM:619743 combined oxidative phosphorylation deficiency 55 False False False OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism False False False OMIM:619762 kury-isidor syndrome False False False OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin False False False OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies False False False -OMIM:619806 spinocerebellar ataxia 49 False False False OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia False False False OMIM:619824 agammaglobulinemia 8b, autosomal recessive False False False OMIM:619832 auditory neuropathy, autosomal dominant 3 False False False @@ -119,10 +109,8 @@ OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate False False False OMIM:619841 chilton-okur-chung neurodevelopmental syndrome False False False OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy False False False OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly False False False -OMIM:619851 leukodystrophy, hypomyelinating, 24 False False False OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities False False False OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency False False False -OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 False False False OMIM:619864 leukodystrophy, childhood-onset, remitting False False False OMIM:619869 neurocardiofaciodigital syndrome False False False OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet False False False @@ -135,37 +123,19 @@ OMIM:619902 hepatorenocardiac degenerative fibrosis False False False OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive False False False OMIM:619908 neurodevelopmental disorder with language delay and seizures False False False OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism False False False -OMIM:619913 developmental and epileptic encephalopathy 103 False False False -OMIM:619921 dystonia 35, childhood-onset False False False OMIM:619922 neurodevelopmental disorder with dystonia and seizures False False False -OMIM:619927 intellectual developmental disorder, autosomal dominant 67 False False False -OMIM:619931 intellectual developmental disorder, autosomal recessive 76 False False False -OMIM:619934 intellectual developmental disorder, autosomal dominant 68 False False False -OMIM:619935 immunodeficiency 106, susceptibility to viral infections False False False -OMIM:619937 spermatogenic failure 74 False False False -OMIM:619938 premature ovarian failure 20 False False False -OMIM:619941 carey-fineman-ziter syndrome 2 False False False -OMIM:619947 waardenburg syndrome, iia 2f False False False -OMIM:619949 spermatogenic failure 75 False False False -OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 False False False -OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 False False False OMIM:619955 dworschak-punetha neurodevelopmental syndrome False False False OMIM:619957 attention deficit-hyperactivity disorder 8 False False False OMIM:619959 acces syndrome False False False OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures False False False -OMIM:619966 spastic paraplegia 87, autosomal recessive False False False OMIM:619967 congenital myopathy 11 False False False -OMIM:619970 developmental and epileptic encephalopathy 104 False False False OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy False False False OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy False False False OMIM:619975 tumor predisposition syndrome 2 False False False OMIM:619977 macular dystrophy, retinal, 4 False False False OMIM:619980 braddock-carey syndrome 1 False False False OMIM:619981 braddock-carey syndrome 2 False False False -OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism False False False OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 False False False -OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection False False False -OMIM:619988 intellectual developmental disorder, autosomal recessive 77 False False False OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies False False False OMIM:619991 liver disease, severe congenital False False False OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies False False False @@ -173,130 +143,69 @@ OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abn OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome False False False OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects False False False OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive False False False -OMIM:620010 cholestasis, progressive familial intrahepatic, 12 False False False OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 False False False OMIM:620012 developmental delay, hypotonia, and impaired language False False False -OMIM:620014 lymphatic malformation 12 False False False -OMIM:620015 advance sleep phase syndrome, familial, 4 False False False -OMIM:620019 arthrogryposis, distal, iia 11 False False False OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies False False False -OMIM:620022 stickler syndrome, iia 6 False False False OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures False False False OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities False False False OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects False False False OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay False False False -OMIM:620028 developmental and epileptic encephalopathy 106 False False False OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures False False False -OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus False False False -OMIM:620033 developmental and epileptic encephalopathy 107 False False False OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language False False False -OMIM:620040 dyskeratosis congenita, digenic False False False OMIM:620044 bone marrow failure and diabetes mellitus syndrome False False False OMIM:620045 intestinal dysmotility syndrome False False False -OMIM:620047 microcephaly 29, primary, autosomal recessive False False False -OMIM:620049 nephrotic syndrome, iia 26 False False False -OMIM:620056 polycystic kidney disease 7 False False False OMIM:620058 familial apolipoprotein gene cluster deletion syndrome False False False -OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 False False False OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders False False False OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment False False False OMIM:620067 cardiac valvular dysplasia 2 False False False -OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii False False False OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties False False False OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss False False False -OMIM:620072 diamond-blackfan anemia 21 False False False OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities False False False OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly False False False OMIM:620076 bent bone dysplasia syndrome 2 False False False OMIM:620080 neuronopathy, distal hereditary motor, iia 10 False False False OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects False False False -OMIM:620084 spermatogenic failure 76 False False False OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 False False False OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features False False False OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction False False False OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia False False False OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies False False False OMIM:620099 cleidocranial dysplasia 2 False False False -OMIM:620102 retinitis pigmentosa 95 False False False -OMIM:620103 spermatogenic failure 77 False False False -OMIM:620104 amelogenesis imperfecta, iia 1k False False False -OMIM:620106 spastic paraplegia 88, autosomal dominant False False False OMIM:620107 orofaciodigital syndrome 19 False False False -OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j False False False OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities False False False OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures False False False -OMIM:620115 developmental and epileptic encephalopathy 108 False False False OMIM:620116 fatty liver disease, protection from False False False OMIM:620121 iron overload, susceptibility to False False False OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive False False False OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive False False False -OMIM:620133 dyskeratosis congenita, autosomal recessive 8 False False False -OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 False False False -OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 False False False OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis False False False -OMIM:620139 combined oxidative phosphorylation deficiency 56 False False False OMIM:620141 developmental delay, language impairment, and ocular abnormalities False False False -OMIM:620145 developmental and epileptic encephalopathy 109 False False False OMIM:620148 ichthyosis, annular epidermolytic, 2 False False False -OMIM:620149 developmental and epileptic encephalopathy 110 False False False -OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy False False False -OMIM:620153 mosaic variegated aneuploidy syndrome 4 False False False OMIM:620154 oocyte maturation defect 13 False False False OMIM:620155 rabin-pappas syndrome False False False -OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 False False False -OMIM:620157 intellectual developmental disorder, autosomal dominant 70 False False False -OMIM:620158 spinocerebellar ataxia 50 False False False OMIM:620161 congenital myopathy 15 False False False OMIM:620166 muscular dystrophy, congenital, with or without seizures False False False -OMIM:620167 combined oxidative phosphorylation deficiency 57 False False False -OMIM:620170 spermatogenic failure 78 False False False -OMIM:620173 tooth agenesis, selective, 10 False False False -OMIM:620174 spinocerebellar ataxia 27b, late-onset False False False -OMIM:620177 hypotrichosis 15 False False False -OMIM:620183 microcephaly 30, primary, autosomal recessive False False False OMIM:620184 atelis syndrome 1 False False False OMIM:620185 atelis syndrome 2 False False False OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome False False False -OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition False False False OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities False False False OMIM:620192 lacrimoauriculodentodigital syndrome 2 False False False OMIM:620193 lacrimoauriculodentodigital syndrome 3 False False False OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies False False False OMIM:620195 obesity and hypopigmentation False False False -OMIM:620196 spermatogenic failure 79 False False False -OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus False False False -OMIM:620198 thyroid hormone metabolism, abnormal, 3 False False False OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses False False False -OMIM:620200 congenital disorder of glycosylation, iia iiy False False False -OMIM:620201 congenital disorder of glycosylation, iia iiz False False False -OMIM:620203 cardiomyopathy, dilated, 2h False False False OMIM:620207 blood group, er False False False -OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 False False False OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia False False False -OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 False False False -OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia False False False -OMIM:620222 spermatogenic failure 80 False False False OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures False False False -OMIM:620227 deafness, autosomal dominant 85 False False False -OMIM:620228 retinitis pigmentosa 96 False False False OMIM:620231 short qt syndrome 7 False False False OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma False False False OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea False False False OMIM:620235 rhabdomyolysis, susceptibility to, 1 False False False -OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies False False False -OMIM:620237 intellectual developmental disorder, autosomal recessive 78 False False False -OMIM:620238 deafness, autosomal recessive 120 False False False OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities False False False -OMIM:620241 hydrocephalus, congenital, 5, susceptibility to False False False OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities False False False -OMIM:620243 leukodystrophy, hypomyelinating, 25 False False False -OMIM:620244 lymphatic malformation 13 False False False -OMIM:620245 episodic kinesigenic dyskinesia 3 False False False OMIM:620246 congenital myopathy 18 False False False -OMIM:620247 cardiomyopathy, dilated, 1oo False False False OMIM:620249 congenital myopathy 10b, mild variant False False False OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum False False False -OMIM:620253 cataract 50 with or without glaucoma False False False OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive False False False OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia False False False OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities False False False @@ -314,25 +223,7 @@ OMIM:620286 myopathy, sarcoplasmic body False False False OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures False False False OMIM:620294 congenital heart defects, multiple types, 9 False False False OMIMPS:117000 False False False -OMIMPS:136550 False False False -OMIMPS:142340 False False False -OMIMPS:146590 False False False -OMIMPS:149730 False False False -OMIMPS:167870 False False False -OMIMPS:212093 False False False -OMIMPS:213980 False False False -OMIMPS:226400 False False False -OMIMPS:232200 False False False -OMIMPS:254940 False False False -OMIMPS:256550 False False False OMIMPS:267750 False False False -OMIMPS:300491 False False False -OMIMPS:601457 False False False -OMIMPS:607602 False False False -OMIMPS:614592 False False False -OMIMPS:616901 False False False -OMIMPS:619980 False False False -OMIMPS:620184 False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -414,6 +305,7 @@ OMIM:123839 False False True OMIM:123850 False False True OMIM:123950 False False True OMIM:123960 False False True +OMIM:124400 False False True OMIM:124580 removed from database False False True OMIM:124800 False False True OMIM:124910 False False True @@ -464,6 +356,7 @@ OMIM:138276 False False True OMIM:138335 False False True OMIM:138370 False False True OMIM:138391 removed from database False False True +OMIM:138990 False False True OMIM:139145 False False True OMIM:139220 removed from database False False True OMIM:139230 removed from database False False True @@ -493,10 +386,12 @@ OMIM:143080 removed from database False False True OMIM:143090 False False True OMIM:143150 False False True OMIM:144400 False False True +OMIM:145410 False False True OMIM:146150 False False True OMIM:146530 False False True OMIM:146692 False False True OMIM:146771 False False True +OMIM:146840 False False True OMIM:146932 False False True OMIM:146940 False False True OMIM:147160 False False True @@ -534,6 +429,7 @@ OMIM:153335 False False True OMIM:153360 False False True OMIM:153460 False False True OMIM:153480 False False True +OMIM:153640 False False True OMIM:153650 False False True OMIM:153860 False False True OMIM:153900 False False True @@ -562,6 +458,8 @@ OMIM:158020 False False True OMIM:158130 False False True OMIM:158150 False False True OMIM:158700 False False True +OMIM:159000 False False True +OMIM:159001 False False True OMIM:159455 False False True OMIM:159700 False False True OMIM:160100 False False True @@ -714,6 +612,7 @@ OMIM:205600 False False True OMIM:205900 False False True OMIM:207700 False False True OMIM:207765 False False True +OMIM:208080 False False True OMIM:208110 False False True OMIM:208200 False False True OMIM:208800 False False True @@ -740,6 +639,7 @@ OMIM:213100 False False True OMIM:214200 False False True OMIM:214380 False False True OMIM:216411 False False True +OMIM:216920 False False True OMIM:218455 False False True OMIM:218500 False False True OMIM:220700 False False True @@ -778,6 +678,9 @@ OMIM:231520 False False True OMIM:231610 removed from database False False True OMIM:232210 False False True OMIM:232330 False False True +OMIM:233430 False False True +OMIM:233500 False False True +OMIM:233670 False False True OMIM:235360 False False True OMIM:235600 False False True OMIM:235735 False False True @@ -796,6 +699,7 @@ OMIM:242800 removed from database False False True OMIM:243095 False False True OMIM:243340 False False True OMIM:244500 False False True +OMIM:245130 False False True OMIM:245210 False False True OMIM:245500 removed from database False False True OMIM:246490 False False True @@ -814,6 +718,7 @@ OMIM:252200 False False True OMIM:253230 False False True OMIM:253500 removed from database False False True OMIM:253850 False False True +OMIM:253900 False False True OMIM:254195 False False True OMIM:255170 False False True OMIM:255980 False False True @@ -854,6 +759,8 @@ OMIM:270240 False False True OMIM:270680 False False True OMIM:271100 False False True OMIM:271120 False False True +OMIM:271225 False False True +OMIM:271550 False False True OMIM:272480 False False True OMIM:272500 False False True OMIM:272550 False False True @@ -866,7 +773,9 @@ OMIM:275650 False False True OMIM:276500 False False True OMIM:276850 False False True OMIM:277420 False False True +OMIM:277610 False False True OMIM:277970 False False True +OMIM:278100 False False True OMIM:278205 False False True OMIM:278400 False False True OMIM:278600 False False True @@ -886,6 +795,7 @@ OMIM:300122 False False True OMIM:300140 False False True OMIM:300141 False False True OMIM:300183 False False True +OMIM:300220 False False True OMIM:300240 False False True OMIM:300250 False False True OMIM:300251 False False True @@ -894,6 +804,7 @@ OMIM:300268 False False True OMIM:300279 False False True OMIM:300290 False False True OMIM:300293 False False True +OMIM:300301 False False True OMIM:300331 False False True OMIM:300360 False False True OMIM:300389 False False True @@ -915,6 +826,8 @@ OMIM:300530 False False True OMIM:300563 False False True OMIM:300565 False False True OMIM:300571 False False True +OMIM:300584 False False True +OMIM:300602 False False True OMIM:300606 False False True OMIM:300612 False False True OMIM:300630 False False True @@ -926,6 +839,7 @@ OMIM:300744 False False True OMIM:300745 False False True OMIM:300800 False False True OMIM:300900 removed from database False False True +OMIM:300987 False False True OMIM:301090 False False True OMIM:301100 False False True OMIM:301810 False False True @@ -953,6 +867,7 @@ OMIM:306100 False False True OMIM:306190 False False True OMIM:306600 removed from database False False True OMIM:306970 False False True +OMIM:307300 False False True OMIM:307600 False False True OMIM:307810 False False True OMIM:308210 removed from database False False True @@ -981,6 +896,7 @@ OMIM:311700 removed from database False False True OMIM:311750 False False True OMIM:311810 False False True OMIM:312030 removed from database False False True +OMIM:312100 False False True OMIM:312390 False False True OMIM:312400 False False True OMIM:312450 False False True @@ -1049,6 +965,7 @@ OMIM:600199 False False True OMIM:600200 False False True OMIM:600203 False False True OMIM:600205 False False True +OMIM:600208 False False True OMIM:600213 False False True OMIM:600216 False False True OMIM:600217 False False True @@ -1102,6 +1019,7 @@ OMIM:600606 removed from database False False True OMIM:600612 False False True OMIM:600619 False False True OMIM:600622 False False True +OMIM:600634 False False True OMIM:600640 False False True OMIM:600645 False False True OMIM:600648 False False True @@ -1137,6 +1055,7 @@ OMIM:600891 False False True OMIM:600893 False False True OMIM:600894 False False True OMIM:600905 False False True +OMIM:600908 False False True OMIM:600913 False False True OMIM:600918 False False True OMIM:600942 False False True @@ -1301,10 +1220,12 @@ OMIM:603374 False False True OMIM:603391 False False True OMIM:603452 False False True OMIM:603459 False False True +OMIM:603463 False False True OMIM:603468 False False True OMIM:603469 False False True OMIM:603480 False False True OMIM:603510 False False True +OMIM:603513 False False True OMIM:603528 False False True OMIM:603532 False False True OMIM:603545 False False True @@ -1394,6 +1315,7 @@ OMIM:605151 False False True OMIM:605156 False False True OMIM:605177 removed from database False False True OMIM:605203 False False True +OMIM:605249 False False True OMIM:605260 False False True OMIM:605288 False False True OMIM:605291 False False True @@ -1474,6 +1396,8 @@ OMIM:607495 False False True OMIM:607500 False False True OMIM:607552 False False True OMIM:607561 False False True +OMIM:607569 False False True +OMIM:607595 False False True OMIM:607636 False False True OMIM:607661 False False True OMIM:607689 False False True @@ -1487,6 +1411,7 @@ OMIM:608128 False False True OMIM:608297 removed from database False False True OMIM:608319 False False True OMIM:608346 False False True +OMIM:608355 False False True OMIM:608395 False False True OMIM:608454 False False True OMIM:608505 False False True @@ -1494,6 +1419,7 @@ OMIM:608563 False False True OMIM:608573 False False True OMIM:608578 False False True OMIM:608590 False False True +OMIM:608591 False False True OMIM:608620 False False True OMIM:608623 False False True OMIM:608637 False False True @@ -1504,10 +1430,14 @@ OMIM:608983 False False True OMIM:608997 False False True OMIM:609065 False False True OMIM:609127 False False True +OMIM:609143 False False True OMIM:609160 False False True OMIM:609167 False False True +OMIM:609266 False False True +OMIM:609307 False False True OMIM:609339 False False True OMIM:609421 False False True +OMIM:609464 False False True OMIM:609480 False False True OMIM:609496 False False True OMIM:609547 False False True @@ -1519,6 +1449,7 @@ OMIM:609830 removed from database False False True OMIM:609886 False False True OMIM:609902 False False True OMIM:609940 False False True +OMIM:609943 False False True OMIM:610126 False False True OMIM:610233 False False True OMIM:610332 False False True @@ -1534,6 +1465,8 @@ OMIM:610815 False False True OMIM:610854 False False True OMIM:610905 False False True OMIM:611057 False False True +OMIM:611094 False False True +OMIM:611155 False False True OMIM:611277 False False True OMIM:611311 False False True OMIM:611385 False False True @@ -1548,6 +1481,7 @@ OMIM:612272 False False True OMIM:612273 False False True OMIM:612321 False False True OMIM:612355 False False True +OMIM:612359 False False True OMIM:612391 False False True OMIM:612440 False False True OMIM:612443 False False True @@ -1565,7 +1499,9 @@ OMIM:613445 False False True OMIM:613557 False False True OMIM:613626 False False True OMIM:613732 False False True +OMIM:613832 False False True OMIM:613853 False False True +OMIM:613875 False False True OMIM:613971 False False True OMIM:614002 False False True OMIM:614004 False False True @@ -1574,10 +1510,15 @@ OMIM:614051 False False True OMIM:614087 False False True OMIM:614132 False False True OMIM:614253 False False True +OMIM:614408 False False True OMIM:614421 False False True OMIM:614467 False False True OMIM:614540 False False True +OMIM:614562 False False True +OMIM:614696 False False True +OMIM:614894 False False True OMIM:615087 False False True +OMIM:615106 False False True OMIM:615118 False False True OMIM:615141 False False True OMIM:615325 False False True @@ -1586,6 +1527,7 @@ OMIM:615971 removed from database False False True OMIM:616018 removed from database False False True OMIM:616233 False False True OMIM:616369 False False True +OMIM:616964 False False True OMIM:618007 False False True OMIM:618428 removed from database False False True OMIM:100640 ALDH1A1 False True False @@ -1711,6 +1653,7 @@ OMIM:106150 AGT False True False OMIM:106165 AGTR1 False True False OMIM:106180 ACE False True False OMIM:106195 SLC4A3 False True False +OMIM:106400 ankylosing vertebral hyperostosis with tylosis False True False OMIM:106410 ANK2 False True False OMIM:106490 ANXA3 False True False OMIM:106491 ANXA4 False True False @@ -5515,7 +5458,6 @@ OMIM:600837 GDNF False True False OMIM:600838 FOXN1 False True False OMIM:600839 SLC12A1 False True False OMIM:600840 SLC12A2 False True False -OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 False True False OMIM:600842 GCKR False True False OMIM:600843 P2RX3 False True False OMIM:600844 P2RX2 False True False @@ -17788,7 +17730,6 @@ OMIM:617858 PSMF1 False True False OMIM:617859 DLGAP5 False True False OMIM:617860 SFTA3 False True False OMIM:617861 MYPOP False True False -OMIM:617863 intellectual developmental disorder, autosomal dominant 69 False True False OMIM:617867 TP53I11 False True False OMIM:617868 NAF1 False True False OMIM:617869 NKX1-1 False True False @@ -19451,7 +19392,6 @@ OMIM:146700 ichthyosis vulgaris True False False OMIM:146750 ichthyosis, lamellar, autosomal dominant True False False OMIM:146800 ichthyosis bullosa of siemens True False False OMIM:147050 ige responsiveness, atopic True False False -OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant True False False OMIM:147250 solitary median maxillary central incisor True False False OMIM:147400 incisors, shovel-shaped True False False OMIM:147421 inclusion body myositis True False False @@ -19790,6 +19730,7 @@ OMIM:178500 interstitial lung disease 2 True False False OMIM:178600 pulmonary hypertension, primary, 1 True False False OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 True False False OMIM:179200 radial heads, posterior dislocation of True False False +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to True False False OMIM:179600 raynaud disease True False False OMIM:179613 recombinant chromosome 8 syndrome True False False OMIM:179650 red cell permeability defect True False False @@ -19804,6 +19745,7 @@ OMIM:180100 retinitis pigmentosa 1 True False False OMIM:180104 retinitis pigmentosa 9 True False False OMIM:180105 retinitis pigmentosa 10 True False False OMIM:180200 retinoblastoma True False False +OMIM:180295 rhabdomyosarcoma, embryonal, 2 True False False OMIM:180300 rheumatoid arthritis True False False OMIM:180500 axenfeld-rieger syndrome, iia 1 True False False OMIM:180550 ring dermoid of cornea True False False @@ -21248,6 +21190,7 @@ OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked OMIM:301058 developmental and epileptic encephalopathy 90 True False False OMIM:301059 spermatogenic failure, x-linked, 3 True False False OMIM:301060 azoospermia, obstructive, with nephrolithiasis True False False +OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies True False False OMIM:301068 hardikar syndrome True False False OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis True False False OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 True False False @@ -21258,6 +21201,7 @@ OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked True False False OMIM:301081 autoinflammatory disease, systemic, X-linked True False False OMIM:301082 immunodeficiency 102 True False False OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to True False False +OMIM:301095 intellectual developmental disorder, X-linked 110 True False False OMIM:301200 amelogenesis imperfecta, iia 1e True False False OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 True False False OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked True False False @@ -22070,7 +22014,6 @@ OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis True Fals OMIM:606170 genitopatellar syndrome True False False OMIM:606176 diabetes mellitus, permanent neonatal, 1 True False False OMIM:606187 alzheimer disease 7 True False False -OMIM:606215 atrioventricular septal defect True False False OMIM:606217 atrioventricular septal defect, susceptibility to, 2 True False False OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects True False False OMIM:606232 phelan-mcdermid syndrome True False False @@ -22160,7 +22103,6 @@ OMIM:606896 dyslexia, susceptibility to, 5 True False False OMIM:606943 usher syndrome, iia 1g True False False OMIM:606952 albinism, oculocutaneous, iia 1b True False False OMIM:606960 insulinoma tumor suppressor gene locus True False False -OMIM:606963 pulmonary disease, chronic obstructive True False False OMIM:606966 nephronophthisis 4 True False False OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 True False False OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 True False False @@ -26291,6 +26233,7 @@ OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 True False False OMIM:619279 parkinsonism with polyneuropathy True False False OMIM:619281 immunodeficiency 14b, autosomal recessive True False False OMIM:619291 dystonia 30 True False False +OMIM:619297 kinsship syndrome True False False OMIM:619301 pontocerebellar hypoplasia, iia 14 True False False OMIM:619302 pontocerebellar hypoplasia, iia 15 True False False OMIM:619303 pontocerebellar hypoplasia, iia 1e True False False @@ -26298,11 +26241,16 @@ OMIM:619304 pontocerebellar hypoplasia, iia 1f True False False OMIM:619310 leukodystrophy, hypomyelinating, 21 True False False OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy True False False OMIM:619317 developmental and epileptic encephalopathy 6b True False False +OMIM:619318 oculogastrointestinal neurodevelopmental syndrome True False False OMIM:619319 lymphatic malformation 9 True False False OMIM:619320 intellectual developmental disorder, autosomal dominant 65 True False False +OMIM:619322 marbach-rustad progeroid syndrome True False False OMIM:619325 coffin-siris syndrome 12 True False False +OMIM:619326 bdv syndrome True False False OMIM:619328 leukodystrophy, hypomyelinating, 22 True False False OMIM:619334 arthrogryposis multiplex congenita 6 True False False +OMIM:619338 cataracts, spastic paraparesis, and speech delay True False False +OMIM:619339 bartsocas-papas syndrome 2 True False False OMIM:619340 developmental and epileptic encephalopathy 96 True False False OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 True False False OMIM:619360 angioedema, hereditary, 4 True False False @@ -26434,11 +26382,13 @@ OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia True False OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 True False False OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 True False False OMIM:619724 dystonia 34, myoclonic True False False +OMIM:619733 inclusion body myopathy and brain white matter abnormalities True False False OMIM:619735 spastic paraplegia 86, autosomal recessive True False False OMIM:619736 teebi hypertelorism syndrome 2 True False False OMIM:619737 combined oxidative phosphorylation deficiency 54 True False False OMIM:619738 parkinsonism-dystonia 3, childhood-onset True False False OMIM:619742 charcot-marie-tooth disease, demyelinating, iia 1i True False False +OMIM:619743 combined oxidative phosphorylation deficiency 55 True False False OMIM:619745 noonan syndrome 14 True False False OMIM:619747 cardiomyopathy, dilated, 2f True False False OMIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies True False False @@ -26469,6 +26419,7 @@ OMIM:619802 immunodeficiency 97 with autoinflammation True False False OMIM:619803 spermatogenic failure 67 True False False OMIM:619804 deafness, autosomal dominant 82 True False False OMIM:619805 spermatogenic failure 68 True False False +OMIM:619806 spinocerebellar ataxia 49 True False False OMIM:619808 deafness, autosomal dominant 83 True False False OMIM:619810 deafness, autosomal dominant 84 True False False OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant True False False @@ -26484,8 +26435,10 @@ OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant True False Fa OMIM:619845 retinitis pigmentosa 93 True False False OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias True False False OMIM:619849 cholestasis, progressive familial intrahepatic, 9 True False False +OMIM:619851 leukodystrophy, hypomyelinating, 24 True False False OMIM:619855 thyroid hormone metabolism, abnormal, 2 True False False OMIM:619858 autoinflammatory-pancytopenia syndrome True False False +OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 True False False OMIM:619867 spermatogenic failure 72 True False False OMIM:619868 cholestasis, progressive familial intrahepatic, 10 True False False OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) True False False @@ -26498,7 +26451,86 @@ OMIM:619895 holoprosencephaly 14 True False False OMIM:619897 cardiomyopathy, dilated, 2g True False False OMIM:619909 pontocerebellar hypoplasia, iia 17 True False False OMIM:619910 intellectual developmental disorder, autosomal dominant 66 True False False +OMIM:619913 developmental and epileptic encephalopathy 103 True False False +OMIM:619921 dystonia 35, childhood-onset True False False OMIM:619924 immunodeficiency 105 True False False +OMIM:619927 intellectual developmental disorder, autosomal dominant 67 True False False +OMIM:619931 intellectual developmental disorder, autosomal recessive 76 True False False +OMIM:619934 intellectual developmental disorder, autosomal dominant 68 True False False +OMIM:619935 immunodeficiency 106, susceptibility to viral infections True False False +OMIM:619937 spermatogenic failure 74 True False False +OMIM:619938 premature ovarian failure 20 True False False +OMIM:619941 carey-fineman-ziter syndrome 2 True False False +OMIM:619947 waardenburg syndrome, iia 2f True False False +OMIM:619949 spermatogenic failure 75 True False False +OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 True False False +OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 True False False +OMIM:619966 spastic paraplegia 87, autosomal recessive True False False +OMIM:619970 developmental and epileptic encephalopathy 104 True False False +OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism True False False +OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection True False False +OMIM:619988 intellectual developmental disorder, autosomal recessive 77 True False False +OMIM:620010 cholestasis, progressive familial intrahepatic, 12 True False False +OMIM:620014 lymphatic malformation 12 True False False +OMIM:620015 advance sleep phase syndrome, familial, 4 True False False +OMIM:620019 arthrogryposis, distal, iia 11 True False False +OMIM:620022 stickler syndrome, iia 6 True False False +OMIM:620028 developmental and epileptic encephalopathy 106 True False False +OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus True False False +OMIM:620033 developmental and epileptic encephalopathy 107 True False False +OMIM:620040 dyskeratosis congenita, digenic True False False +OMIM:620047 microcephaly 29, primary, autosomal recessive True False False +OMIM:620049 nephrotic syndrome, iia 26 True False False +OMIM:620056 polycystic kidney disease 7 True False False +OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 True False False +OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii True False False +OMIM:620072 diamond-blackfan anemia 21 True False False +OMIM:620084 spermatogenic failure 76 True False False +OMIM:620102 retinitis pigmentosa 95 True False False +OMIM:620103 spermatogenic failure 77 True False False +OMIM:620104 amelogenesis imperfecta, iia 1k True False False +OMIM:620106 spastic paraplegia 88, autosomal dominant True False False +OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j True False False +OMIM:620115 developmental and epileptic encephalopathy 108 True False False +OMIM:620133 dyskeratosis congenita, autosomal recessive 8 True False False +OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 True False False +OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 True False False +OMIM:620139 combined oxidative phosphorylation deficiency 56 True False False +OMIM:620145 developmental and epileptic encephalopathy 109 True False False +OMIM:620149 developmental and epileptic encephalopathy 110 True False False +OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy True False False +OMIM:620153 mosaic variegated aneuploidy syndrome 4 True False False +OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 True False False +OMIM:620157 intellectual developmental disorder, autosomal dominant 70 True False False +OMIM:620158 spinocerebellar ataxia 50 True False False +OMIM:620167 combined oxidative phosphorylation deficiency 57 True False False +OMIM:620170 spermatogenic failure 78 True False False +OMIM:620173 tooth agenesis, selective, 10 True False False +OMIM:620174 spinocerebellar ataxia 27b, late-onset True False False +OMIM:620177 hypotrichosis 15 True False False +OMIM:620183 microcephaly 30, primary, autosomal recessive True False False +OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition True False False +OMIM:620196 spermatogenic failure 79 True False False +OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus True False False +OMIM:620198 thyroid hormone metabolism, abnormal, 3 True False False +OMIM:620200 congenital disorder of glycosylation, iia iiy True False False +OMIM:620201 congenital disorder of glycosylation, iia iiz True False False +OMIM:620203 cardiomyopathy, dilated, 2h True False False +OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 True False False +OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 True False False +OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia True False False +OMIM:620222 spermatogenic failure 80 True False False +OMIM:620227 deafness, autosomal dominant 85 True False False +OMIM:620228 retinitis pigmentosa 96 True False False +OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies True False False +OMIM:620237 intellectual developmental disorder, autosomal recessive 78 True False False +OMIM:620238 deafness, autosomal recessive 120 True False False +OMIM:620241 hydrocephalus, congenital, 5, susceptibility to True False False +OMIM:620243 leukodystrophy, hypomyelinating, 25 True False False +OMIM:620244 lymphatic malformation 13 True False False +OMIM:620245 episodic kinesigenic dyskinesia 3 True False False +OMIM:620247 cardiomyopathy, dilated, 1oo True False False +OMIM:620253 cataract 50 with or without glaucoma True False False OMIMPS:100070 True False False OMIMPS:100300 True False False OMIMPS:101800 True False False @@ -26578,12 +26610,14 @@ OMIMPS:135700 True False False OMIMPS:135900 True False False OMIMPS:136500 True False False OMIMPS:136520 True False False +OMIMPS:136550 True False False OMIMPS:136760 True False False OMIMPS:136800 True False False OMIMPS:137800 True False False OMIMPS:137950 True False False OMIMPS:138800 True False False OMIMPS:141500 True False False +OMIMPS:142340 True False False OMIMPS:142623 True False False OMIMPS:142690 True False False OMIMPS:142700 True False False @@ -26595,12 +26629,14 @@ OMIMPS:145420 True False False OMIMPS:145600 True False False OMIMPS:145980 True False False OMIMPS:146200 True False False +OMIMPS:146590 True False False OMIMPS:147060 True False False OMIMPS:147920 True False False OMIMPS:147950 True False False OMIMPS:148210 True False False OMIMPS:148300 True False False OMIMPS:149400 True False False +OMIMPS:149730 True False False OMIMPS:151100 True False False OMIMPS:151623 True False False OMIMPS:151660 True False False @@ -26643,6 +26679,7 @@ OMIMPS:166800 True False False OMIMPS:167200 True False False OMIMPS:167250 True False False OMIMPS:167320 True False False +OMIMPS:167870 True False False OMIMPS:168000 True False False OMIMPS:168500 True False False OMIMPS:168600 True False False @@ -26722,11 +26759,13 @@ OMIMPS:211530 True False False OMIMPS:211600 True False False OMIMPS:212065 True False False OMIMPS:212066 True False False +OMIMPS:212093 True False False OMIMPS:212720 True False False OMIMPS:212750 True False False OMIMPS:213200 True False False OMIMPS:213300 True False False OMIMPS:213600 True False False +OMIMPS:213980 True False False OMIMPS:214100 True False False OMIMPS:214150 True False False OMIMPS:214450 True False False @@ -26748,6 +26787,7 @@ OMIMPS:224050 True False False OMIMPS:224120 True False False OMIMPS:224690 True False False OMIMPS:225750 True False False +OMIMPS:226400 True False False OMIMPS:226650 True False False OMIMPS:227220 True False False OMIMPS:227650 True False False @@ -26758,6 +26798,7 @@ OMIMPS:230400 True False False OMIMPS:231050 True False False OMIMPS:231090 True False False OMIMPS:231200 True False False +OMIMPS:232200 True False False OMIMPS:233300 True False False OMIMPS:233400 True False False OMIMPS:234200 True False False @@ -26806,11 +26847,13 @@ OMIMPS:254090 True False False OMIMPS:254130 True False False OMIMPS:254770 True False False OMIMPS:254800 True False False +OMIMPS:254940 True False False OMIMPS:256040 True False False OMIMPS:256100 True False False OMIMPS:256300 True False False OMIMPS:256450 True False False OMIMPS:256520 True False False +OMIMPS:256550 True False False OMIMPS:256730 True False False OMIMPS:256850 True False False OMIMPS:257300 True False False @@ -26855,6 +26898,7 @@ OMIMPS:300049 True False False OMIMPS:300291 True False False OMIMPS:300345 True False False OMIMPS:300352 True False False +OMIMPS:300491 True False False OMIMPS:300633 True False False OMIMPS:300751 True False False OMIMPS:300755 True False False @@ -26902,6 +26946,7 @@ OMIMPS:601198 True False False OMIMPS:601228 True False False OMIMPS:601390 True False False OMIMPS:601419 True False False +OMIMPS:601457 True False False OMIMPS:601462 True False False OMIMPS:601471 True False False OMIMPS:601495 True False False @@ -26950,6 +26995,7 @@ OMIMPS:607426 True False False OMIMPS:607432 True False False OMIMPS:607594 True False False OMIMPS:607596 True False False +OMIMPS:607602 True False False OMIMPS:607631 True False False OMIMPS:607634 True False False OMIMPS:607721 True False False @@ -26996,6 +27042,7 @@ OMIMPS:614328 True False False OMIMPS:614372 True False False OMIMPS:614388 True False False OMIMPS:614429 True False False +OMIMPS:614592 True False False OMIMPS:614594 True False False OMIMPS:614675 True False False OMIMPS:614742 True False False @@ -27012,6 +27059,7 @@ OMIMPS:616418 True False False OMIMPS:616744 True False False OMIMPS:616814 True False False OMIMPS:616866 True False False +OMIMPS:616901 True False False OMIMPS:617068 True False False OMIMPS:617186 True False False OMIMPS:617236 True False False @@ -27025,18 +27073,13 @@ OMIMPS:619142 True False False OMIMPS:619611 True False False OMIMPS:619720 True False False OMIMPS:619758 True False False +OMIMPS:619980 True False False +OMIMPS:620184 True False False OMIM:102590 True False True OMIM:103470 True False True -OMIM:124400 True False True OMIM:134700 True False True OMIM:137560 True False True -OMIM:138990 True False True -OMIM:145410 True False True OMIM:146400 True False True -OMIM:146840 True False True -OMIM:153640 True False True -OMIM:159000 True False True -OMIM:159001 True False True OMIM:162020 True False True OMIM:162820 True False True OMIM:163955 True False True @@ -27046,83 +27089,39 @@ OMIM:175020 True False True OMIM:181430 True False True OMIM:181515 True False True OMIM:182920 True False True -OMIM:208080 True False True -OMIM:216920 True False True -OMIM:233430 True False True -OMIM:233500 True False True -OMIM:233670 True False True -OMIM:245130 True False True OMIM:247440 True False True OMIM:252700 True False True -OMIM:253900 True False True OMIM:270710 True False True -OMIM:271225 True False True -OMIM:271550 True False True OMIM:276905 True False True -OMIM:277610 True False True -OMIM:278100 True False True -OMIM:300220 True False True OMIM:300274 True False True -OMIM:300301 True False True OMIM:300494 True False True OMIM:300497 True False True OMIM:300504 True False True OMIM:300537 True False True OMIM:300551 True False True -OMIM:300584 True False True -OMIM:300602 True False True OMIM:300640 True False True OMIM:300660 True False True OMIM:300881 True False True -OMIM:300987 True False True OMIM:301590 True False True OMIM:306500 True False True -OMIM:307300 True False True OMIM:309605 True False True -OMIM:312100 True False True OMIM:600048 True False True OMIM:600146 True False True -OMIM:600208 True False True OMIM:600309 True False True -OMIM:600634 True False True -OMIM:600908 True False True OMIM:600996 True False True OMIM:601251 True False True OMIM:601563 True False True -OMIM:603463 True False True -OMIM:603513 True False True -OMIM:605249 True False True OMIM:605365 True False True -OMIM:607569 True False True -OMIM:607595 True False True OMIM:607801 True False True -OMIM:608355 True False True -OMIM:608591 True False True -OMIM:609143 True False True -OMIM:609266 True False True -OMIM:609307 True False True OMIM:609456 True False True -OMIM:609464 True False True -OMIM:609943 True False True OMIM:610269 True False True OMIM:610799 True False True -OMIM:611094 True False True -OMIM:611155 True False True -OMIM:612359 True False True OMIM:613740 True False True -OMIM:613832 True False True -OMIM:613875 True False True OMIM:614157 True False True OMIM:614192 True False True OMIM:614339 True False True -OMIM:614408 True False True -OMIM:614562 True False True -OMIM:614696 True False True -OMIM:614894 True False True OMIM:615057 True False True -OMIM:615106 True False True OMIM:616958 True False True -OMIM:616964 True False True OMIM:100050 aarskog syndrome, autosomal dominant True True False OMIM:100200 abducens palsy True True False OMIM:100700 achard syndrome True True False @@ -27153,7 +27152,6 @@ OMIM:106220 aniridia and absent patella True True False OMIM:106240 anisocoria True True False OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate True True False OMIM:106280 ankyloglossia with or without tooth anomalies True True False -OMIM:106400 ankylosing vertebral hyperostosis with tylosis True True False OMIM:106500 annular erythema True True False OMIM:106750 anonychia with flexural pigmentation True True False OMIM:106900 anonychia-ectrodactyly True True False @@ -28452,6 +28450,7 @@ OMIM:600706 proximal myopathy with focal depletion of mitochondria True True Fal OMIM:600736 velofacioskeletal syndrome True True False OMIM:600776 fryns microphthalmia syndrome True True False OMIM:600801 isoproterenol-mediated vasodilatation True True False +OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 True True False OMIM:600851 mitochondrial import-stimulating factor True True False OMIM:600903 wiskott-aldrich syndrome, autosomal dominant True True False OMIM:600906 ectodermal dysplasia with mental retardation and syndactyly True True False @@ -28748,4 +28747,5 @@ OMIM:615236 woods syndrome True True False OMIM:615619 cholangiocarcinoma, susceptibility to True True False OMIM:615711 alzheimer disease 19 True True False OMIM:616392 skint1-like pseudogene True True False +OMIM:617863 intellectual developmental disorder, autosomal dominant 69 True True False OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency True True False diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 4d6111e4..0f618943 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,19 +1,15 @@ subject_id subject_label OMIM:619835 3-methylglutaconic aciduria, iia 7a OMIM:619959 acces syndrome -OMIM:620015 advance sleep phase syndrome, familial, 4 OMIM:619824 agammaglobulinemia 8b, autosomal recessive OMIM:619268 alzahrani-kuwahara syndrome -OMIM:620104 amelogenesis imperfecta, iia 1k OMIM:620285 amyotrophic lateral sclerosis 27, juvenile -OMIM:620019 arthrogryposis, distal, iia 11 OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM:620184 atelis syndrome 1 OMIM:620185 atelis syndrome 2 +OMIM:606215 atrioventricular septal defect OMIM:619957 attention deficit-hyperactivity disorder 8 OMIM:619832 auditory neuropathy, autosomal dominant 3 -OMIM:619339 bartsocas-papas syndrome 2 -OMIM:619326 bdv syndrome OMIM:620076 bent bone dysplasia syndrome 2 OMIM:619481 bile acid malabsorption, primary, 2 OMIM:619534 biliary, renal, neurologic, and skeletal syndrome @@ -27,31 +23,15 @@ OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss OMIM:619690 brunet-wagner neurodevelopmental syndrome OMIM:619314 buratti-harel syndrome OMIM:620067 cardiac valvular dysplasia 2 -OMIM:620247 cardiomyopathy, dilated, 1oo -OMIM:620203 cardiomyopathy, dilated, 2h -OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies -OMIM:619941 carey-fineman-ziter syndrome 2 -OMIM:620253 cataract 50 with or without glaucoma -OMIM:619338 cataracts, spastic paraparesis, and speech delay OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619538 cerebral cavernous malformations 4 -OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii -OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j OMIM:619841 chilton-okur-chung neurodevelopmental syndrome -OMIM:620010 cholestasis, progressive familial intrahepatic, 12 OMIM:619504 chopra-amiel-gordon syndrome OMIM:619649 chromosome 16q12 duplication syndrome OMIM:619343 chromosome 1p36 deletion syndrome, proximal OMIM:301069 chromosome xq13 duplication syndrome -OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus -OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620099 cleidocranial dysplasia 2 -OMIM:619743 combined oxidative phosphorylation deficiency 55 -OMIM:620139 combined oxidative phosphorylation deficiency 56 -OMIM:620167 combined oxidative phosphorylation deficiency 57 -OMIM:620200 congenital disorder of glycosylation, iia iiy -OMIM:620201 congenital disorder of glycosylation, iia iiz OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy OMIM:620294 congenital heart defects, multiple types, 9 @@ -62,30 +42,18 @@ OMIM:620246 congenital myopathy 18 OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet -OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 OMIM:619727 craniotubular dysplasia, ikegawa iia -OMIM:620227 deafness, autosomal dominant 85 OMIM:620280 deafness, autosomal dominant 86 OMIM:620281 deafness, autosomal dominant 87 OMIM:620283 deafness, autosomal dominant 88 OMIM:620284 deafness, autosomal dominant 89 -OMIM:620238 deafness, autosomal recessive 120 OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy OMIM:619488 degcags syndrome OMIM:619613 delayed puberty, self-limited OMIM:619877 dentici-novelli neurodevelopmental syndrome -OMIM:619913 developmental and epileptic encephalopathy 103 -OMIM:619970 developmental and epileptic encephalopathy 104 -OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism -OMIM:620028 developmental and epileptic encephalopathy 106 -OMIM:620033 developmental and epileptic encephalopathy 107 -OMIM:620115 developmental and epileptic encephalopathy 108 -OMIM:620145 developmental and epileptic encephalopathy 109 -OMIM:620149 developmental and epileptic encephalopathy 110 OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities -OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies OMIM:619694 developmental delay with variable neurologic and brain abnormalities OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders @@ -94,17 +62,12 @@ OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavio OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM:620141 developmental delay, language impairment, and ocular abnormalities -OMIM:620072 diamond-blackfan anemia 21 OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects OMIM:619955 dworschak-punetha neurodevelopmental syndrome -OMIM:620133 dyskeratosis congenita, autosomal recessive 8 -OMIM:620040 dyskeratosis congenita, digenic OMIM:619345 dysostosis multiplex, ain-naz iia -OMIM:619921 dystonia 35, childhood-onset OMIM:619681 dystonia, early-onset, and/or spastic paraplegia OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features -OMIM:620245 episodic kinesigenic dyskinesia 3 OMIM:620058 familial apolipoprotein gene cluster deletion syndrome OMIM:620116 fatty liver disease, protection from OMIM:619376 faundes-banka syndrome @@ -118,20 +81,14 @@ OMIM:619641 hengel-maroofian-schols syndrome OMIM:619902 hepatorenocardiac degenerative fibrosis OMIM:619702 heterotaxy, visceral, 12, autosomal OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome -OMIM:620241 hydrocephalus, congenital, 5, susceptibility to -OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 +OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM:619324 hypertriglyceridemia 2 OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate OMIM:619406 hypokalemic tubulopathy and deafness -OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:619545 hypoplastic femurs and pelvis -OMIM:620177 hypotrichosis 15 OMIM:620148 ichthyosis, annular epidermolytic, 2 -OMIM:619935 immunodeficiency 106, susceptibility to viral infections -OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:620282 immunodeficiency 109 with lymphoproliferation -OMIM:619733 inclusion body myopathy and brain white matter abnormalities OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies @@ -139,51 +96,30 @@ OMIM:619911 intellectual developmental disorder with language impairment and ear OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy -OMIM:301095 intellectual developmental disorder, X-linked 110 -OMIM:619927 intellectual developmental disorder, autosomal dominant 67 -OMIM:619934 intellectual developmental disorder, autosomal dominant 68 -OMIM:620157 intellectual developmental disorder, autosomal dominant 70 -OMIM:619931 intellectual developmental disorder, autosomal recessive 76 -OMIM:619988 intellectual developmental disorder, autosomal recessive 77 -OMIM:620237 intellectual developmental disorder, autosomal recessive 78 -OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:619719 intellectual disability and myopathy syndrome OMIM:620045 intestinal dysmotility syndrome OMIM:620121 iron overload, susceptibility to OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive -OMIM:619297 kinsship syndrome OMIM:619762 kury-isidor syndrome OMIM:620192 lacrimoauriculodentodigital syndrome 2 OMIM:620193 lacrimoauriculodentodigital syndrome 3 OMIM:619864 leukodystrophy, childhood-onset, remitting -OMIM:619851 leukodystrophy, hypomyelinating, 24 -OMIM:620243 leukodystrophy, hypomyelinating, 25 OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM:619991 liver disease, severe congenital OMIM:619460 luo-schoch-yamamoto syndrome -OMIM:620014 lymphatic malformation 12 -OMIM:620244 lymphatic malformation 13 OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619977 macular dystrophy, retinal, 4 OMIM:619290 mahvash disease -OMIM:619322 marbach-rustad progeroid syndrome OMIM:619680 marbach-schaaf neurodevelopmental syndrome -OMIM:620047 microcephaly 29, primary, autosomal recessive -OMIM:620183 microcephaly 30, primary, autosomal recessive -OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 -OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 -OMIM:620153 mosaic variegated aneuploidy syndrome 4 -OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM:620166 muscular dystrophy, congenital, with or without seizures OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy OMIM:620286 myopathy, sarcoplasmic body OMIM:619468 nephronophthisis-like nephropathy 2 -OMIM:620049 nephrotic syndrome, iia 26 OMIM:619869 neurocardiofaciodigital syndrome OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly @@ -244,7 +180,6 @@ OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and car OMIM:620080 neuronopathy, distal hereditary motor, iia 10 OMIM:619539 neuroocular syndrome OMIM:620195 obesity and hypopigmentation -OMIM:619318 oculogastrointestinal neurodevelopmental syndrome OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome OMIM:620154 oocyte maturation defect 13 OMIM:620276 oocyte maturation defect 14 @@ -255,53 +190,28 @@ OMIM:619873 parenti-mignot neurodevelopmental syndrome OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency -OMIM:620056 polycystic kidney disease 7 -OMIM:619938 premature ovarian failure 20 OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive +OMIM:606963 pulmonary disease, chronic obstructive OMIM:620155 rabin-pappas syndrome OMIM:619312 radio-tartaglia syndrome -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:619695 rauch-steindl syndrome OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:619446 retinal dystrophy and microvillus inclusion disease -OMIM:620102 retinitis pigmentosa 95 -OMIM:620228 retinitis pigmentosa 96 OMIM:620235 rhabdomyolysis, susceptibility to, 1 -OMIM:180295 rhabdomyosarcoma, embryonal, 2 OMIM:619598 rhizomelic dysplasia, ain-naz iia OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to OMIM:620231 short qt syndrome 7 OMIM:619489 short stature, dauber-argente iia OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM:619464 sick sinus syndrome 4 -OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia -OMIM:619966 spastic paraplegia 87, autosomal recessive -OMIM:620106 spastic paraplegia 88, autosomal dominant -OMIM:619937 spermatogenic failure 74 -OMIM:619949 spermatogenic failure 75 -OMIM:620084 spermatogenic failure 76 -OMIM:620103 spermatogenic failure 77 -OMIM:620170 spermatogenic failure 78 -OMIM:620196 spermatogenic failure 79 -OMIM:620222 spermatogenic failure 80 OMIM:620277 spermatogenic failure 81 OMIM:301099 spermatogenic failure, x-linked, 5 OMIM:301101 spermatogenic failure, x-linked, 6 OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 -OMIM:620174 spinocerebellar ataxia 27b, late-onset -OMIM:619806 spinocerebellar ataxia 49 -OMIM:620158 spinocerebellar ataxia 50 -OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 -OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 -OMIM:620022 stickler syndrome, iia 6 OMIM:301080 systemic lupus erythematosus 17 -OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 -OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 OMIM:301071 thrombophilia, x-linked, due to factor 8 defect -OMIM:620198 thyroid hormone metabolism, abnormal, 3 -OMIM:620173 tooth agenesis, selective, 10 OMIM:619975 tumor predisposition syndrome 2 OMIM:619467 usmani-riazuddin syndrome, autosomal dominant OMIM:619548 usmani-riazuddin syndrome, autosomal recessive @@ -309,27 +219,8 @@ OMIM:619501 ventriculomegaly and arthrogryposis OMIM:619400 visceral leiomyopathy, african degenerative OMIM:619350 visceral myopathy 2 OMIM:619472 viss syndrome -OMIM:619947 waardenburg syndrome, iia 2f OMIM:619426 white-kernohan syndrome OMIM:619701 yoon-bellen neurodevelopmental syndrome OMIM:619648 zaki syndrome OMIMPS:117000 -OMIMPS:136550 -OMIMPS:142340 -OMIMPS:146590 -OMIMPS:149730 -OMIMPS:167870 -OMIMPS:212093 -OMIMPS:213980 -OMIMPS:226400 -OMIMPS:232200 -OMIMPS:254940 -OMIMPS:256550 OMIMPS:267750 -OMIMPS:300491 -OMIMPS:601457 -OMIMPS:607602 -OMIMPS:614592 -OMIMPS:616901 -OMIMPS:619980 -OMIMPS:620184 diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index 12d81247..17e63228 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -59,7 +59,6 @@ MONDO:0006460 Orphanet:489 MONDO:equivalentObsolete MONDO:0006559 Orphanet:387 MONDO:equivalentObsolete MONDO:0006761 Orphanet:336 MONDO:equivalentObsolete MONDO:0006802 Orphanet:83449 MONDO:equivalentObsolete -MONDO:0007001 Orphanet:95458 MONDO:equivalentObsolete MONDO:0007020 Orphanet:97354 MONDO:equivalentObsolete MONDO:0007035 Orphanet:924 MONDO:equivalentObsolete MONDO:0007040 Orphanet:3128 MONDO:equivalentObsolete @@ -70,7 +69,6 @@ MONDO:0007180 Orphanet:1831 MONDO:equivalentObsolete MONDO:0007217 Orphanet:93393 MONDO:equivalentObsolete MONDO:0007222 Orphanet:93385 MONDO:equivalentObsolete MONDO:0007275 Orphanet:50838 MONDO:equivalentObsolete -MONDO:0007361 Orphanet:459353 MONDO:equivalentObsolete MONDO:0007393 Orphanet:1339 MONDO:equivalentObsolete MONDO:0007465 Orphanet:1683 MONDO:equivalentObsolete MONDO:0007476 Orphanet:79142 MONDO:equivalentObsolete @@ -90,10 +88,8 @@ MONDO:0007779 Orphanet:306588 MONDO:equivalentObsolete MONDO:0007809 Orphanet:79504 MONDO:equivalentObsolete MONDO:0007810 Orphanet:462 MONDO:equivalentObsolete MONDO:0007811 Orphanet:2267 MONDO:equivalentObsolete -MONDO:0007861 Orphanet:2343 MONDO:equivalentObsolete MONDO:0007899 Orphanet:33409 MONDO:equivalentObsolete MONDO:0007972 Orphanet:45360 MONDO:equivalentObsolete -MONDO:0008207 Orphanet:1428 MONDO:equivalentObsolete MONDO:0008225 Orphanet:680 MONDO:equivalentObsolete MONDO:0008228 Orphanet:120 MONDO:equivalentObsolete MONDO:0008231 Orphanet:2870 MONDO:equivalentObsolete @@ -103,12 +99,10 @@ MONDO:0008410 Orphanet:3135 MONDO:equivalentObsolete MONDO:0008487 Orphanet:3185 MONDO:equivalentObsolete MONDO:0008490 Orphanet:3450 MONDO:equivalentObsolete MONDO:0008523 Orphanet:90341 MONDO:equivalentObsolete -MONDO:0008606 Orphanet:3133 MONDO:equivalentObsolete MONDO:0008672 Orphanet:3444 MONDO:equivalentObsolete MONDO:0008685 Orphanet:907 MONDO:equivalentObsolete MONDO:0008771 Orphanet:171836 MONDO:equivalentObsolete MONDO:0008885 Orphanet:157788 MONDO:equivalentObsolete -MONDO:0009038 Orphanet:1533 MONDO:equivalentObsolete MONDO:0009043 Orphanet:3221 MONDO:equivalentObsolete MONDO:0009056 Orphanet:1557 MONDO:equivalentObsolete MONDO:0009128 Orphanet:2650 MONDO:equivalentObsolete @@ -136,7 +130,6 @@ MONDO:0009927 Orphanet:2998 MONDO:equivalentObsolete MONDO:0009969 Orphanet:1092 MONDO:equivalentObsolete MONDO:0010030 Orphanet:378 MONDO:equivalentObsolete MONDO:0010045 Orphanet:2823 MONDO:equivalentObsolete -MONDO:0010069 Orphanet:94095 MONDO:equivalentObsolete MONDO:0010070 Orphanet:93301 MONDO:equivalentObsolete MONDO:0010074 Orphanet:93303 MONDO:equivalentObsolete MONDO:0010098 Orphanet:3289 MONDO:equivalentObsolete @@ -166,7 +159,6 @@ MONDO:0011110 Orphanet:1804 MONDO:equivalentObsolete MONDO:0011122 Orphanet:521399 MONDO:equivalentObsolete MONDO:0011125 Orphanet:670 MONDO:equivalentObsolete MONDO:0011182 Orphanet:35056 MONDO:equivalentObsolete -MONDO:0011191 Orphanet:464293 MONDO:equivalentObsolete MONDO:0011303 Orphanet:93213 MONDO:equivalentObsolete MONDO:0011362 Orphanet:34521 MONDO:equivalentObsolete MONDO:0011431 Orphanet:99715 MONDO:equivalentObsolete @@ -207,9 +199,7 @@ MONDO:0015091 Orphanet:100990 MONDO:equivalentObsolete MONDO:0015095 Orphanet:101033 MONDO:equivalentObsolete MONDO:0015102 Orphanet:101106 MONDO:equivalentObsolete MONDO:0015120 Orphanet:101949 MONDO:equivalentObsolete -MONDO:0015160 Orphanet:102284 MONDO:equivalentObsolete MONDO:0015163 Orphanet:102373 MONDO:equivalentObsolete -MONDO:0015167 Orphanet:1034 MONDO:equivalentObsolete MONDO:0015172 Orphanet:103912 MONDO:equivalentObsolete MONDO:0015173 Orphanet:103916 MONDO:equivalentObsolete MONDO:0015174 Orphanet:103917 MONDO:equivalentObsolete @@ -221,7 +211,6 @@ MONDO:0015257 Orphanet:1260 MONDO:equivalentObsolete MONDO:0015288 Orphanet:137586 MONDO:equivalentObsolete MONDO:0015297 Orphanet:137653 MONDO:equivalentObsolete MONDO:0015308 Orphanet:137871 MONDO:equivalentObsolete -MONDO:0015343 Orphanet:139420 MONDO:equivalentObsolete MONDO:0015358 Orphanet:140450 MONDO:equivalentObsolete MONDO:0015398 Orphanet:141136 MONDO:equivalentObsolete MONDO:0015424 Orphanet:1420 MONDO:equivalentObsolete @@ -230,23 +219,15 @@ MONDO:0015468 Orphanet:1530 MONDO:equivalentObsolete MONDO:0015474 Orphanet:1549 MONDO:equivalentObsolete MONDO:0015486 Orphanet:2335 MONDO:equivalentObsolete MONDO:0015493 Orphanet:156156 MONDO:equivalentObsolete -MONDO:0015550 Orphanet:158661 MONDO:equivalentObsolete MONDO:0015551 Orphanet:158665 MONDO:equivalentObsolete MONDO:0015559 Orphanet:158793 MONDO:equivalentObsolete MONDO:0015560 Orphanet:158796 MONDO:equivalentObsolete MONDO:0015569 Orphanet:162521 MONDO:equivalentObsolete -MONDO:0015588 Orphanet:163892 MONDO:equivalentObsolete MONDO:0015589 Orphanet:163895 MONDO:equivalentObsolete -MONDO:0015590 Orphanet:163898 MONDO:equivalentObsolete -MONDO:0015591 Orphanet:163903 MONDO:equivalentObsolete -MONDO:0015592 Orphanet:163908 MONDO:equivalentObsolete MONDO:0015593 Orphanet:163914 MONDO:equivalentObsolete MONDO:0015594 Orphanet:163918 MONDO:equivalentObsolete -MONDO:0015596 Orphanet:163924 MONDO:equivalentObsolete MONDO:0015602 Orphanet:163988 MONDO:equivalentObsolete -MONDO:0015731 Orphanet:171201 MONDO:equivalentObsolete MONDO:0015732 Orphanet:171208 MONDO:equivalentObsolete -MONDO:0015733 Orphanet:171215 MONDO:equivalentObsolete MONDO:0015742 Orphanet:171676 MONDO:equivalentObsolete MONDO:0015752 Orphanet:171860 MONDO:equivalentObsolete MONDO:0015838 Orphanet:180118 MONDO:equivalentObsolete @@ -273,10 +254,8 @@ MONDO:0016161 Orphanet:2081 MONDO:equivalentObsolete MONDO:0016271 Orphanet:213741 MONDO:equivalentObsolete MONDO:0016297 Orphanet:216445 MONDO:equivalentObsolete MONDO:0016298 Orphanet:216452 MONDO:equivalentObsolete -MONDO:0016332 Orphanet:217601 MONDO:equivalentObsolete MONDO:0016373 Orphanet:221106 MONDO:equivalentObsolete MONDO:0016377 Orphanet:221150 MONDO:equivalentObsolete -MONDO:0016412 Orphanet:226310 MONDO:equivalentObsolete MONDO:0016420 Orphanet:227786 MONDO:equivalentObsolete MONDO:0016451 Orphanet:228315 MONDO:equivalentObsolete MONDO:0016452 Orphanet:228318 MONDO:equivalentObsolete @@ -285,9 +264,7 @@ MONDO:0016560 Orphanet:238766 MONDO:equivalentObsolete MONDO:0016572 Orphanet:2431 MONDO:equivalentObsolete MONDO:0016583 Orphanet:2454 MONDO:equivalentObsolete MONDO:0016615 Orphanet:247839 MONDO:equivalentObsolete -MONDO:0016616 Orphanet:247846 MONDO:equivalentObsolete MONDO:0016617 Orphanet:247854 MONDO:equivalentObsolete -MONDO:0016618 Orphanet:247861 MONDO:equivalentObsolete MONDO:0016626 Orphanet:248305 MONDO:equivalentObsolete MONDO:0016697 Orphanet:251633 MONDO:equivalentObsolete MONDO:0016795 Orphanet:254793 MONDO:equivalentObsolete @@ -305,7 +282,6 @@ MONDO:0017045 Orphanet:2676 MONDO:equivalentObsolete MONDO:0017046 Orphanet:2677 MONDO:equivalentObsolete MONDO:0017106 Orphanet:269200 MONDO:equivalentObsolete MONDO:0017126 Orphanet:2716 MONDO:equivalentObsolete -MONDO:0017179 Orphanet:276402 MONDO:equivalentObsolete MONDO:0017191 Orphanet:276624 MONDO:equivalentObsolete MONDO:0017192 Orphanet:276627 MONDO:equivalentObsolete MONDO:0017236 Orphanet:280569 MONDO:equivalentObsolete @@ -404,31 +380,18 @@ MONDO:0017557 Orphanet:295223 MONDO:equivalentObsolete MONDO:0017562 Orphanet:295234 MONDO:equivalentObsolete MONDO:0017563 Orphanet:295237 MONDO:equivalentObsolete MONDO:0017616 Orphanet:3062 MONDO:equivalentObsolete -MONDO:0017618 Orphanet:306436 MONDO:equivalentObsolete -MONDO:0017619 Orphanet:306446 MONDO:equivalentObsolete -MONDO:0017620 Orphanet:306462 MONDO:equivalentObsolete -MONDO:0017621 Orphanet:306474 MONDO:equivalentObsolete -MONDO:0017622 Orphanet:306486 MONDO:equivalentObsolete -MONDO:0017625 Orphanet:306519 MONDO:equivalentObsolete -MONDO:0017626 Orphanet:306522 MONDO:equivalentObsolete MONDO:0017642 Orphanet:3067 MONDO:equivalentObsolete MONDO:0017655 Orphanet:306762 MONDO:equivalentObsolete MONDO:0017770 Orphanet:3105 MONDO:equivalentObsolete MONDO:0017832 Orphanet:314946 MONDO:equivalentObsolete MONDO:0017887 Orphanet:319314 MONDO:equivalentObsolete MONDO:0017984 Orphanet:3267 MONDO:equivalentObsolete -MONDO:0017995 Orphanet:329252 MONDO:equivalentObsolete MONDO:0017996 Orphanet:329255 MONDO:equivalentObsolete -MONDO:0018003 Orphanet:329341 MONDO:equivalentObsolete -MONDO:0018046 Orphanet:3323 MONDO:equivalentObsolete MONDO:0018070 Orphanet:338 MONDO:equivalentObsolete -MONDO:0018100 Orphanet:34526 MONDO:equivalentObsolete -MONDO:0018101 Orphanet:34527 MONDO:equivalentObsolete MONDO:0018104 Orphanet:3460 MONDO:equivalentObsolete MONDO:0018107 Orphanet:35061 MONDO:equivalentObsolete MONDO:0018110 Orphanet:35064 MONDO:equivalentObsolete MONDO:0018111 Orphanet:35065 MONDO:equivalentObsolete -MONDO:0018113 Orphanet:35098 MONDO:equivalentObsolete MONDO:0018122 Orphanet:352487 MONDO:equivalentObsolete MONDO:0018138 Orphanet:352740 MONDO:equivalentObsolete MONDO:0018154 Orphanet:35688 MONDO:equivalentObsolete @@ -443,14 +406,12 @@ MONDO:0018665 Orphanet:448348 MONDO:equivalentObsolete MONDO:0018708 Orphanet:457252 MONDO:equivalentObsolete MONDO:0018722 Orphanet:458841 MONDO:equivalentObsolete MONDO:0018962 Orphanet:620 MONDO:equivalentObsolete -MONDO:0018971 Orphanet:63440 MONDO:equivalentObsolete MONDO:0018989 Orphanet:64740 MONDO:equivalentObsolete MONDO:0019103 Orphanet:71269 MONDO:equivalentObsolete MONDO:0019116 Orphanet:717 MONDO:equivalentObsolete MONDO:0019172 Orphanet:77 MONDO:equivalentObsolete MONDO:0019206 Orphanet:79132 MONDO:equivalentObsolete MONDO:0019297 Orphanet:79383 MONDO:equivalentObsolete -MONDO:0019317 Orphanet:79459 MONDO:equivalentObsolete MONDO:0019348 Orphanet:82004 MONDO:equivalentObsolete MONDO:0019389 Orphanet:83648 MONDO:equivalentObsolete MONDO:0019397 Orphanet:84096 MONDO:equivalentObsolete @@ -459,9 +420,7 @@ MONDO:0019410 Orphanet:85196 MONDO:equivalentObsolete MONDO:0019417 Orphanet:85318 MONDO:equivalentObsolete MONDO:0019426 Orphanet:85330 MONDO:equivalentObsolete MONDO:0019520 Orphanet:89832 MONDO:equivalentObsolete -MONDO:0019521 Orphanet:89841 MONDO:equivalentObsolete MONDO:0019563 Orphanet:90290 MONDO:equivalentObsolete -MONDO:0019603 Orphanet:91133 MONDO:equivalentObsolete MONDO:0019649 Orphanet:93206 MONDO:equivalentObsolete MONDO:0019650 Orphanet:93207 MONDO:equivalentObsolete MONDO:0019651 Orphanet:93209 MONDO:equivalentObsolete @@ -482,20 +441,17 @@ MONDO:0019770 Orphanet:93951 MONDO:equivalentObsolete MONDO:0019774 Orphanet:93970 MONDO:equivalentObsolete MONDO:0019776 Orphanet:93972 MONDO:equivalentObsolete MONDO:0019779 Orphanet:93975 MONDO:equivalentObsolete -MONDO:0019796 Orphanet:946 MONDO:equivalentObsolete MONDO:0019809 Orphanet:95449 MONDO:equivalentObsolete MONDO:0019821 Orphanet:95484 MONDO:equivalentObsolete MONDO:0019826 Orphanet:95493 MONDO:equivalentObsolete MONDO:0019847 Orphanet:95701 MONDO:equivalentObsolete MONDO:0019894 Orphanet:96136 MONDO:equivalentObsolete MONDO:0019899 Orphanet:96152 MONDO:equivalentObsolete -MONDO:0019901 Orphanet:96164 MONDO:equivalentObsolete MONDO:0019940 Orphanet:966 MONDO:equivalentObsolete MONDO:0019946 Orphanet:97231 MONDO:equivalentObsolete MONDO:0019986 Orphanet:97555 MONDO:equivalentObsolete MONDO:0019987 Orphanet:97556 MONDO:equivalentObsolete MONDO:0019995 Orphanet:97927 MONDO:equivalentObsolete -MONDO:0020068 Orphanet:98253 MONDO:equivalentObsolete MONDO:0020092 Orphanet:98345 MONDO:equivalentObsolete MONDO:0020119 Orphanet:98464 MONDO:equivalentObsolete MONDO:0020134 Orphanet:98520 MONDO:equivalentObsolete @@ -548,7 +504,6 @@ MONDO:0020241 Orphanet:98662 MONDO:equivalentObsolete MONDO:0020242 Orphanet:98664 MONDO:equivalentObsolete MONDO:0020243 Orphanet:98665 MONDO:equivalentObsolete MONDO:0020244 Orphanet:98666 MONDO:equivalentObsolete -MONDO:0020245 Orphanet:98667 MONDO:equivalentObsolete MONDO:0020247 Orphanet:98669 MONDO:equivalentObsolete MONDO:0020252 Orphanet:98682 MONDO:equivalentObsolete MONDO:0020259 Orphanet:98689 MONDO:equivalentObsolete @@ -576,7 +531,6 @@ MONDO:0020322 Orphanet:98837 MONDO:equivalentObsolete MONDO:0020353 Orphanet:98941 MONDO:equivalentObsolete MONDO:0020384 Orphanet:99022 MONDO:equivalentObsolete MONDO:0020406 Orphanet:99066 MONDO:equivalentObsolete -MONDO:0020409 Orphanet:99069 MONDO:equivalentObsolete MONDO:0020421 Orphanet:99085 MONDO:equivalentObsolete MONDO:0020422 Orphanet:99086 MONDO:equivalentObsolete MONDO:0020424 Orphanet:99088 MONDO:equivalentObsolete @@ -618,5 +572,5 @@ MONDO:0044631 Orphanet:494348 MONDO:equivalentObsolete MONDO:0044683 Orphanet:498700 MONDO:equivalentObsolete MONDO:0100076 Orphanet:459696 MONDO:equivalentObsolete MONDO:0100161 Orphanet:89939 MONDO:equivalentObsolete -MONDO:0100343 Orphanet:93604 MONDO:equivalentObsolete +MONDO:0100300 Orphanet:464293 MONDO:equivalentObsolete MONDO:0100428 Orphanet:56965 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 2b0ee03f..cd7248b6 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -38,19 +38,15 @@ Orphanet:413674 Prediction of toxicity or dose selection of vitamin K antagonist Orphanet:413681 Prediction of toxicity or dose selection of oral antidiabetic drugs False False False Orphanet:413684 Prediction of resistance to vitamin K antagonists False False False Orphanet:413687 Prediction of toxicity or dose selection of thiopurine drugs False False False -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome False False False Orphanet:448426 Genetic primary orthostatic hypotension False False False Orphanet:449306 Antibiotic therapy dose selection False False False Orphanet:481671 Type 1 interferonopathy of childhood False False False -Orphanet:498491 Complete hemimelia False False False Orphanet:519266 Rare disorder of the ocular adnexa False False False Orphanet:519274 Syndromic lacrimal system disorder False False False -Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations False False False Orphanet:519282 Rare corneal disorder False False False Orphanet:519286 Rare disorder of the pupil False False False Orphanet:519288 Rare disorder with corneal involvement as a major feature False False False Orphanet:519290 Rare inflammatory/autoimmune corneal disorder False False False -Orphanet:519294 Syndromic microspherophakia False False False Orphanet:519296 Rare disorder with pigmented sclera False False False Orphanet:519298 Rare scleral disorder False False False Orphanet:519300 Isolated chorioretinal dystrophy False False False @@ -61,7 +57,6 @@ Orphanet:519315 Rare retinal disorder False False False Orphanet:519317 Rare retinal vasculopathy False False False Orphanet:519321 Syndromic chorioretinal dystrophy False False False Orphanet:519331 Secondary early-onset glaucoma False False False -Orphanet:519333 Congenital optic disc excavation False False False Orphanet:519337 Disorder with optic nerve compression False False False Orphanet:519351 Rare optic nerve disorder False False False Orphanet:519353 Rare trochlear nerve disorder False False False @@ -106,74 +101,16 @@ Orphanet:562522 Prediction of response to monoclonal antibody treatment False Fa Orphanet:565785 Methotrexate dose selection False False False Orphanet:576742 Genetic hemolytic uremic syndrome False False False Orphanet:596747 Prediction of toxicity or dose selection of eliglustat False False False -Orphanet:617294 Twin anemia-polycythemia sequence False False False -Orphanet:617297 Twin-reversed arterial perfusion sequence False False False -Orphanet:617301 Selective intrauterine growth restriction False False False -Orphanet:617304 Amniotic fluid embolism False False False Orphanet:617307 Rare disorder related to monochorionic twin pregnancy False False False Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion False False False Orphanet:617313 Rare disorder due to inadequate sharing of the placenta False False False -Orphanet:617408 Classic eosinophilic pustular folliculitis False False False -Orphanet:617440 Painful legs and moving toes syndrome False False False -Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome False False False -Orphanet:617910 Conjunctival malignant melanoma False False False -Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia False False False -Orphanet:617919 F12-associated cold autoinflammatory syndrome False False False -Orphanet:617930 Hemophilia B Leyden False False False Orphanet:618569 Prediction of sensitivity to immunosuppressive drugs in myelodysplasia False False False Orphanet:618572 Selection of therapeutic option in ovarian cancer False False False -Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency False False False -Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome False False False Orphanet:619246 Selection of immunotherapy in solid cancer False False False Orphanet:619249 Rare hereditary connective tissue disease False False False Orphanet:619277 Prediction of antihistamines toxicity False False False -Orphanet:619284 Narcolepsy False False False -Orphanet:619340 Inherited hematologic cancer-predisposing syndrome False False False -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 False False False -Orphanet:619367 SAMD9L-associated autoinflammatory syndrome False False False -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration False False False -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome False False False -Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency False False False -Orphanet:619972 CADINS disease False False False -Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome False False False -Orphanet:620096 Non-syndromic unisutural craniosynostosis False False False -Orphanet:620102 Non-syndromic unicoronal craniosynostosis False False False -Orphanet:620113 Non-syndromic unilambdoid craniosynostosis False False False -Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis False False False -Orphanet:620146 Non-syndromic unisquamosal craniosynostosis False False False -Orphanet:620152 Non-syndromic multisutural craniosynostosis False False False -Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis False False False -Orphanet:620178 Non-syndromic bilambdoid craniosynostosis False False False -Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis False False False -Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis False False False -Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis False False False -Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis False False False -Orphanet:620212 Non-syndromic pansynostosis False False False -Orphanet:620217 Bartter syndrome type 1 False False False -Orphanet:620220 Bartter syndrome type 2 False False False -Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome False False False -Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability False False False -Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation False False False -Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome False False False -Orphanet:622014 Autoimmune encephalitis False False False -Orphanet:622099 Superior mesenteric artery syndrome False False False Orphanet:622720 Genetic autoinflammatory syndrome with skin involvement False False False -Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection False False False -Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia False False False -Orphanet:623615 Autoimmune limbic encephalitis False False False -Orphanet:623626 Paraneoplastic cerebellar degeneration False False False Orphanet:623638 Immune-mediated cerebellar ataxia False False False -Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia False False False -Orphanet:623789 Body integrity dysphoria False False False -Orphanet:623801 Acute flaccid myelitis False False False -Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies False False False -Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies False False False -Orphanet:624190 Paraneoplastic isolated brainstem encephalitis False False False -Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies False False False -Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies False False False -Orphanet:624244 Postinfectious cerebellitis False False False -Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies False False False -Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies False False False Orphanet:626609 Rare andrological tumor False False False Orphanet:631068 Autosomal dominant spastic paraplegia type 80 False False False Orphanet:631073 Autosomal recessive spastic paraplegia type 82 False False False @@ -210,10 +147,8 @@ Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride cha Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect False False False Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect False False False Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect False False False -Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome False False False Orphanet:C001 False False False Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk False True False -Orphanet:158038 Primary hemophagocytic lymphohistiocytosis False True False Orphanet:158048 Hemophagocytic syndrome associated with an infection False True False Orphanet:182222 Rare systemic disease False True False Orphanet:206634 Genetic skeletal muscle disease False True False @@ -308,8 +243,10 @@ Orphanet:101980 OBSOLETE: Disease with isotype or light chain deficiencies with Orphanet:101982 OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells False True True Orphanet:102025 OBSOLETE: Nuclear cell envelopathy False True True Orphanet:102069 OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis False True True +Orphanet:102284 OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome False True True Orphanet:103 OBSOLETE: Genetic optic atrophy False True True Orphanet:1032 OBSOLETE: Hyperdibasic aminoaciduria type 1 False True True +Orphanet:1034 OBSOLETE: Amniotic bands False True True Orphanet:103915 OBSOLETE: Immunoproliferative small intestinal disease False True True Orphanet:1044 OBSOLETE: Anemia due to adenosine triphosphatase deficiency False True True Orphanet:1057 OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome False True True @@ -355,6 +292,7 @@ Orphanet:139015 OBSOLETE: Chondrodysplastic malformation syndrome False True Tru Orphanet:139018 OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones False True True Orphanet:139373 OBSOLETE: Recessive hereditary methemoglobinemia type 1 False True True Orphanet:139380 OBSOLETE: Recessive hereditary methemoglobinemia type 2 False True True +Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis False True True Orphanet:139477 Al-Gazali-Dattani syndrome False True True Orphanet:1396 OBSOLETE: Cerebrorenodigital syndrome False True True Orphanet:140428 OBSOLETE: Hereditary iron overload with neurologic manifestation False True True @@ -363,23 +301,31 @@ Orphanet:140462 OBSOLETE: X-linked recessive hereditary axonal motor and sensory Orphanet:140500 OBSOLETE: Neurological channelopathy False True True Orphanet:140503 OBSOLETE: Channelopathy False True True Orphanet:1417 OBSOLETE: Platyspondylic lethal chondrodysplasia False True True +Orphanet:1428 OBSOLETE: Familial chondromalacia patellae False True True Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome False True True Orphanet:1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome False True True Orphanet:1492 OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome False True True Orphanet:1499 OBSOLETE: Cortada-Koussef-Matsumoto syndrome False True True Orphanet:151 OBSOLETE: Familial renal cell carcinoma False True True +Orphanet:1533 OBSOLETE: Craniosynostosis-fibular aplasia syndrome False True True Orphanet:1534 OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type False True True Orphanet:156071 OBSOLETE: Keratoconus False True True Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome False True True Orphanet:156723 Piepkorn dysplasia False True True Orphanet:1569 De Sanctis-Cacchione syndrome False True True Orphanet:1577 OBSOLETE: Infantile thalamic degeneration False True True +Orphanet:158661 OBSOLETE: Suprabasal epidermolysis bullosa simplex False True True Orphanet:158799 OBSOLETE: Aleukemic mast cell leukemia False True True Orphanet:1611 OBSOLETE: Deletion 20p False True True Orphanet:1625 OBSOLETE: Deletion 4q False True True Orphanet:163528 OBSOLETE: Acute cutaneous lupus erythematosus False True True Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type False True True Orphanet:163678 OBSOLETE: Unclassified spondylometaphyseal dysplasia False True True +Orphanet:163892 OBSOLETE: Limbic encephalitis False True True +Orphanet:163898 OBSOLETE: Classic paraneoplastic limbic encephalitis False True True +Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens False True True +Orphanet:163908 OBSOLETE: Limbic encephalitis with LGI1 antibodies False True True +Orphanet:163924 OBSOLETE: Non-herpetic acute limbic encephalitis False True True Orphanet:163953 X-linked intellectual disability, Raymond type False True True Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome False True True Orphanet:1651 OBSOLETE: Dennis-Cohen syndrome False True True @@ -394,6 +340,8 @@ Orphanet:1680 OBSOLETE: Spastic diplegia, infantile type False True True Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type False True True Orphanet:168972 Kahrizi syndrome False True True Orphanet:169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome False True True +Orphanet:171201 OBSOLETE: High isolated anorectal malformation False True True +Orphanet:171215 OBSOLETE: Low isolated anorectal malformation False True True Orphanet:171714 Amish infantile epilepsy syndrome False True True Orphanet:172973 OBSOLETE: Congenital myopathy with protein accumulation False True True Orphanet:172979 OBSOLETE: Congenital myopathy with central nuclei False True True @@ -453,18 +401,21 @@ Orphanet:217052 OBSOLETE: Infantile non-syndromic cataract False True True Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome False True True Orphanet:2174 Hunter-Carpenter-McDonald syndrome False True True Orphanet:217410 OBSOLETE: Circumscribed lymphatic malformation False True True +Orphanet:217601 OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training False True True Orphanet:218432 OBSOLETE: Familial restrictive cardiomyopathy type 3 False True True Orphanet:2243 Hypopituitarism-micropenis-cleft lip/palate syndrome False True True Orphanet:2244 Hypopituitarism-microphthalmia syndrome False True True Orphanet:2245 OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome False True True Orphanet:2258 OBSOLETE: Congenital unilateral pulmonary hypoplasia False True True Orphanet:225968 OBSOLETE: Inherited predisposition to essential thrombocythemia False True True +Orphanet:226310 OBSOLETE: Peripheral hypothyroidism False True True Orphanet:2284 OBSOLETE: Primary T cell immunodeficiency False True True Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome False True True Orphanet:228418 OBSOLETE: Microcephaly-seizures-developmental delay syndrome False True True Orphanet:2286 OBSOLETE: Solitary median maxillary central incisor syndrome False True True Orphanet:231205 OBSOLETE: Common variable immunodeficiency without known genetic defect False True True Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome False True True +Orphanet:2343 OBSOLETE: Isolated cloverleaf skull syndrome False True True Orphanet:2352 Kozlowski-Brown-Hardwick syndrome False True True Orphanet:235835 OBSOLETE: Congenital vascular bone syndrome with limb overgrowth False True True Orphanet:235838 OBSOLETE: Congenital vascular bone syndrome with limb shortening False True True @@ -565,6 +516,8 @@ Orphanet:2419 Lymphedema-ptosis syndrome False True True Orphanet:2452 OBSOLETE: Vascular malposition False True True Orphanet:2458 OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome False True True Orphanet:2474 OBSOLETE: McLain-Dekaban syndrome False True True +Orphanet:247846 OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies False True True +Orphanet:247861 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies False True True Orphanet:247871 OBSOLETE: Vitiligo-associated autoimmune disease False True True Orphanet:2486 Transverse limb deficiency-hemangioma syndrome False True True Orphanet:2507 OBSOLETE: Mickleson syndrome False True True @@ -641,6 +594,7 @@ Orphanet:276258 OBSOLETE: Xeroderma pigmentosum complementation group D False Tr Orphanet:276261 OBSOLETE: Xeroderma pigmentosum complementation group E False True True Orphanet:276264 OBSOLETE: Xeroderma pigmentosum complementation group F False True True Orphanet:276267 OBSOLETE: Xeroderma pigmentosum complementation group G False True True +Orphanet:276402 OBSOLETE: Limbic encephalitis with caspr2 antibodies False True True Orphanet:2765 OBSOLETE: Hypertrichotic osteochondrodysplasia False True True Orphanet:2775 Autosomal recessive carpotarsal osteolysis False True True Orphanet:2778 OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis False True True @@ -671,7 +625,14 @@ Orphanet:3050 OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation Orphanet:3059 X-linked intellectual disability, Gu type False True True Orphanet:3061 OBSOLETE: X-linked intellectual disability, Raynaud type False True True Orphanet:3064 OBSOLETE: X-linked intellectual disability, Wittner type False True True +Orphanet:306436 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance False True True +Orphanet:306446 OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance False True True +Orphanet:306462 OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance False True True +Orphanet:306474 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance False True True +Orphanet:306486 OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance False True True Orphanet:3065 X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome False True True +Orphanet:306519 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria False True True +Orphanet:306522 OBSOLETE: Genetic primary hypomagnesemia with normocalciuria False True True Orphanet:306561 OBSOLETE: Autosomal dominant childhood-onset cortical cataract False True True Orphanet:306566 OBSOLETE: Susceptibility to myopathies due to statin treatment False True True Orphanet:306574 OBSOLETE: Methotrexate dose selection False True True @@ -685,6 +646,7 @@ Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome False True Tr Orphanet:3118 Rudiger syndrome False True True Orphanet:3122 OBSOLETE: Sinus node disease-myopia syndrome False True True Orphanet:3123 Brittle hair syndrome, Sabinas type False True True +Orphanet:3133 OBSOLETE: Say-Field-Coldwell syndrome False True True Orphanet:3160 OBSOLETE: Vascular disruption sequence False True True Orphanet:3195 Sternal malformation-vascular dysplasia syndrome False True True Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness False True True @@ -700,11 +662,14 @@ Orphanet:3274 Granulomatous arthritis of childhood False True True Orphanet:328269 OBSOLETE: Rare bone disease with limb reduction defect False True True Orphanet:3284 OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome False True True Orphanet:329206 OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome False True True +Orphanet:329252 OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome False True True +Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies False True True Orphanet:329998 OBSOLETE: Lymphomatous meningitis False True True Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 False True True Orphanet:330009 OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk False True True Orphanet:3311 OBSOLETE: Infantile symmetrical thalamic degeneration False True True Orphanet:3313 OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome False True True +Orphanet:3323 Braddock-Carey syndrome False True True Orphanet:3331 OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome False True True Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome False True True Orphanet:3333 Connective tissue dysplasia, Spellacy type False True True @@ -724,7 +689,10 @@ Orphanet:3438 Biliary tract malformation-renal failure syndrome False True True Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome False True True Orphanet:3446 Weaver-like syndrome False True True Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E False True True +Orphanet:34526 OBSOLETE: Genetic primary hypomagnesemia False True True +Orphanet:34527 OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia False True True Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis False True True +Orphanet:35098 OBSOLETE: Isolated plagiocephaly False True True Orphanet:35123 OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency False True True Orphanet:352298 OBSOLETE: Genetic muscular channelopathy False True True Orphanet:352482 OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement False True True @@ -771,6 +739,7 @@ Orphanet:443328 OBSOLETE: HIV-related Kaposi sarcoma False True True Orphanet:447792 OBSOLETE: Hemochromatosis type 5 False True True Orphanet:448372 OBSOLETE: X-linked acrogigantism due to Xq26 microduplication False True True Orphanet:454872 OBSOLETE: Type 1 interferonopathy with immunodeficiency False True True +Orphanet:459353 OBSOLETE: C1 inhibitor deficiency False True True Orphanet:459530 OBSOLETE: Genetic primary lymphedema False True True Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma False True True Orphanet:464682 OBSOLETE: Disorder with acute infantile liver failure False True True @@ -798,6 +767,7 @@ Orphanet:57194 OBSOLETE: Aseptic osteitis False True True Orphanet:58220 OBSOLETE: Microscopic colitis False True True Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin False True True Orphanet:63261 HERNS syndrome False True True +Orphanet:63440 OBSOLETE: Isolated oxycephaly False True True Orphanet:665 Albright hereditary osteodystrophy False True True Orphanet:669 OBSOLETE: Otopalatodigital syndrome False True True Orphanet:68388 OBSOLETE: Neurofibromatosis False True True @@ -832,6 +802,7 @@ Orphanet:79429 OBSOLETE: Familial spinal neurofibromatosis False True True Orphanet:79446 Multiple pterygium syndrome, Aslan type False True True Orphanet:79450 Non-hereditary congenital primary lymphedema False True True Orphanet:79458 Oley syndrome False True True +Orphanet:79459 OBSOLETE: Follicular atrophoderma-basal cell carcinoma False True True Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis False True True Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation False True True Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma False True True @@ -845,6 +816,7 @@ Orphanet:86917 OBSOLETE: Lymphedema-cleft palate syndrome False True True Orphanet:872 OBSOLETE: Disorder in the hormonal synthesis with or without goiter False True True Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome False True True Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin False True True +Orphanet:89841 OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa False True True Orphanet:89845 OBSOLETE: Idiopathic hydrops fetalis False True True Orphanet:90022 OBSOLETE: Cardiomyopathy-renal anomalies syndrome False True True Orphanet:90055 OBSOLETE: Rejection after corneal transplantation False True True @@ -858,6 +830,7 @@ Orphanet:90338 Margarita island ectodermal dysplasia False True True Orphanet:90345 OBSOLETE: Unclassified metaphyseal chondrodysplasia False True True Orphanet:91128 OBSOLETE: Graft rejection after lung transplantation False True True Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome False True True +Orphanet:91133 OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome False True True Orphanet:91353 OBSOLETE: Choristoma False True True Orphanet:91365 OBSOLETE: Secondary ciliary dyskinesia False True True Orphanet:91415 OBSOLETE: Familial capillary hemangioma False True True @@ -886,6 +859,7 @@ Orphanet:93566 OBSOLETE: Pediatric Sjögren syndrome False True True Orphanet:93567 OBSOLETE: Pediatric systemic sclerosis False True True Orphanet:93594 OBSOLETE: Alpha-1-antichymotrypsin deficiency False True True Orphanet:936 Succinic acidemia False True True +Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome False True True Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness False True True Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness False True True Orphanet:93668 OBSOLETE: Adult chronic recurrent multifocal osteomyelitis False True True @@ -900,8 +874,11 @@ Orphanet:93963 OBSOLETE: Autosomal dominant focal dystonia, DYT7 type False True Orphanet:94061 OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome False True True Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome False True True Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome False True True +Orphanet:94095 OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome False True True +Orphanet:946 OBSOLETE: Acrocephalosyndactyly False True True Orphanet:953 OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type False True True Orphanet:95426 OBSOLETE: Chronic pain requiring intraspinal analgesia False True True +Orphanet:95458 OBSOLETE: Tricuspid valve prolapse False True True Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct False True True Orphanet:95501 OBSOLETE: Congenital central diabetes insipidus False True True Orphanet:95504 OBSOLETE: Metastatic pituitary hormone deficiency False True True @@ -914,6 +891,7 @@ Orphanet:95623 OBSOLETE: Posttraumatic hypopituitarism False True True Orphanet:95625 OBSOLETE: Posttraumatic diabetes insipidus False True True Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency False True True Orphanet:95721 OBSOLETE: Thyroid pyramidal lobe False True True +Orphanet:96164 OBSOLETE: Non-distal monosomy 20q False True True Orphanet:964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome False True True Orphanet:97342 OBSOLETE: Argyrophilic grain disease False True True Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst False True True @@ -955,6 +933,7 @@ Orphanet:98124 OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine re Orphanet:98125 OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect False True True Orphanet:98167 OBSOLETE: Diabetes associated to exocrine pancreas neoplasia False True True Orphanet:98204 OBSOLETE: Heredodegenerative disease with dystonia as a major feature False True True +Orphanet:98253 OBSOLETE: Postinfectious encephalitis False True True Orphanet:98296 OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly False True True Orphanet:98297 OBSOLETE: Ichthyosis associated with a protein catabolism anomaly False True True Orphanet:98298 OBSOLETE: Ichthyosis associated with a peroxisomal disease False True True @@ -1006,6 +985,7 @@ Orphanet:98532 OBSOLETE: Tauopathy with a major tau at 60 kDa False True True Orphanet:98568 OBSOLETE: Congenital entropion False True True Orphanet:98589 OBSOLETE: Palpebral malignant melanoma False True True Orphanet:98629 OBSOLETE: Rare glaucoma False True True +Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration False True True Orphanet:98670 OBSOLETE: Vitreoretinal degeneration False True True Orphanet:98675 OBSOLETE: Autosomal recessive optic atrophy False True True Orphanet:98677 OBSOLETE: Autosomal recessive syndromic optic atrophy False True True @@ -1035,6 +1015,7 @@ Orphanet:98987 OBSOLETE: Cataract, Hutterite type False True True Orphanet:99012 OBSOLETE: Autosomal recessive optic atrophy, OPA6 type False True True Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect False True True Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect False True True +Orphanet:99069 OBSOLETE: Univentricular heart with single atrio-ventricular valve False True True Orphanet:99096 OBSOLETE: Multiple ventricular septal defects False True True Orphanet:99097 OBSOLETE: Single ventricular septal defect False True True Orphanet:99126 OBSOLETE: Pulmonary vein atresia False True True @@ -6509,6 +6490,7 @@ Orphanet:435660 LIPE-related familial partial lipodystrophy True False False Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome True False False Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation True False False Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome True False False +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome True False False Orphanet:435934 COG2-CDG True False False Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome True False False Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome True False False @@ -7073,6 +7055,7 @@ Orphanet:498477 Ectrodactyly with and without other manifestations True False Fa Orphanet:498481 LRP5-related primary osteoporosis True False False Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome True False False Orphanet:498488 Overgrowth syndrome with 2q37 translocation True False False +Orphanet:498491 Complete hemimelia True False False Orphanet:498494 Mirror-image polydactyly True False False Orphanet:498497 Short rib-polydactyly syndrome type 5 True False False Orphanet:498602 Sugarman brachydactyly True False False @@ -7197,12 +7180,15 @@ Orphanet:518 Acute megakaryoblastic leukemia True False False Orphanet:51890 Anterior cutaneous nerve entrapment syndrome True False False Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system True False False Orphanet:519270 Rare disorder with entropion True False False +Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations True False False Orphanet:519278 Infective keratitis True False False Orphanet:519280 Rare conjunctivitis True False False Orphanet:519292 Syndromic ectopia lentis True False False +Orphanet:519294 Syndromic microspherophakia True False False Orphanet:519304 Isolated vitreoretinopathy True False False Orphanet:519325 Syndromic inherited retinal disorder True False False Orphanet:519327 Syndromic vitreoretinopathy True False False +Orphanet:519333 Congenital optic disc excavation True False False Orphanet:519339 Pseudopapilledema True False False Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature True False False Orphanet:519343 Rare ophthalmic disorder with cortical involvement True False False @@ -7765,11 +7751,69 @@ Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insuffic Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster True False False Orphanet:616 Medulloblastoma True False False Orphanet:617 Congenital primary megaureter True False False +Orphanet:617294 Twin anemia-polycythemia sequence True False False +Orphanet:617297 Twin-reversed arterial perfusion sequence True False False +Orphanet:617301 Selective intrauterine growth restriction True False False +Orphanet:617304 Amniotic fluid embolism True False False +Orphanet:617408 Classic eosinophilic pustular folliculitis True False False +Orphanet:617440 Painful legs and moving toes syndrome True False False +Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome True False False +Orphanet:617910 Conjunctival malignant melanoma True False False +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia True False False +Orphanet:617919 F12-associated cold autoinflammatory syndrome True False False +Orphanet:617930 Hemophilia B Leyden True False False Orphanet:618 Familial melanoma True False False +Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency True False False +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome True False False +Orphanet:619284 Narcolepsy True False False +Orphanet:619340 Inherited hematologic cancer-predisposing syndrome True False False +Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 True False False +Orphanet:619367 SAMD9L-associated autoinflammatory syndrome True False False +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration True False False +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome True False False +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency True False False +Orphanet:619972 CADINS disease True False False +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome True False False Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 True False False +Orphanet:620096 Non-syndromic unisutural craniosynostosis True False False +Orphanet:620102 Non-syndromic unicoronal craniosynostosis True False False +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis True False False +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis True False False +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis True False False +Orphanet:620152 Non-syndromic multisutural craniosynostosis True False False +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis True False False +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis True False False +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis True False False +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis True False False +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis True False False +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis True False False +Orphanet:620212 Non-syndromic pansynostosis True False False +Orphanet:620217 Bartter syndrome type 1 True False False +Orphanet:620220 Bartter syndrome type 2 True False False +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome True False False +Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability True False False +Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation True False False Orphanet:621 Hereditary methemoglobinemia True False False +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome True False False Orphanet:622 Homocystinuria without methylmalonic aciduria True False False +Orphanet:622014 Autoimmune encephalitis True False False +Orphanet:622099 Superior mesenteric artery syndrome True False False +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection True False False +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia True False False +Orphanet:623615 Autoimmune limbic encephalitis True False False +Orphanet:623626 Paraneoplastic cerebellar degeneration True False False +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia True False False +Orphanet:623789 Body integrity dysphoria True False False +Orphanet:623801 Acute flaccid myelitis True False False Orphanet:624 Familial multiple nevi flammei True False False +Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies True False False +Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies True False False +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis True False False +Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies True False False +Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies True False False +Orphanet:624244 Postinfectious cerebellitis True False False +Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies True False False +Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies True False False Orphanet:626 Large congenital melanocytic nevus True False False Orphanet:627 Nance-Horan syndrome True False False Orphanet:628 Diastrophic dysplasia True False False @@ -9886,6 +9930,7 @@ Orphanet:99657 Primary dystonia, DYT2 type True False False Orphanet:99672 Fried's tooth and nail syndrome True False False Orphanet:99688 Dermotrichic syndrome True False False Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis True False False +Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome True False False Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation True False False Orphanet:99718 Leber plus disease True False False Orphanet:99725 Pituitary gigantism True False False @@ -10037,6 +10082,7 @@ Orphanet:108969 Syndromic intestinal malformation True True False Orphanet:108971 Non-syndromic visceral malformation True True False Orphanet:117573 Syndromic anorectal malformation True True False Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis True True False +Orphanet:158038 Primary hemophagocytic lymphohistiocytosis True True False Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption True True False Orphanet:164823 Rare acquired aplastic anemia True True False Orphanet:165704 Non-syndromic urogenital tract malformation True True False @@ -10254,9 +10300,7 @@ Orphanet:101106 OBSOLETE: Non-secreting chemodectoma True True True Orphanet:101335 OBSOLETE: Indian tick typhus True True True Orphanet:1019 Epstein syndrome True True True Orphanet:101949 OBSOLETE: Rare acquired eye disease True True True -Orphanet:102284 OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True Orphanet:102373 OBSOLETE: Primary glomerular disease True True True -Orphanet:1034 OBSOLETE: Amniotic bands True True True Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome True True True Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 True True True Orphanet:103917 OBSOLETE: Autoimmune enteropathy type 3 True True True @@ -10278,7 +10322,6 @@ Orphanet:1339 OBSOLETE: Cranioacrofacial syndrome True True True Orphanet:137586 OBSOLETE: Herpes simplex virus keratitis True True True Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome True True True Orphanet:137871 OBSOLETE: Laminopathy type Decaudain-Vigouroux True True True -Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis True True True Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 True True True Orphanet:140450 OBSOLETE: Hereditary motor and sensory neuropathy True True True Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome True True True @@ -10286,12 +10329,10 @@ Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndr Orphanet:141136 Otomandibular syndrome True True True Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type True True True Orphanet:1421 OBSOLETE: Lethal chondrodysplasia, Seller type True True True -Orphanet:1428 OBSOLETE: Familial chondromalacia patellae True True True Orphanet:1434 OBSOLETE: Choroideremia-hypopituitarism syndrome True True True Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect True True True Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome True True True Orphanet:1530 OBSOLETE: Craniosynostosis-cataract syndrome True True True -Orphanet:1533 OBSOLETE: Craniosynostosis-fibular aplasia syndrome True True True Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome True True True Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis True True True Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy True True True @@ -10301,28 +10342,20 @@ Orphanet:1575 OBSOLETE: Infantile striatothalamic degeneration True True True Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome True True True Orphanet:157855 HARP syndrome True True True Orphanet:157980 NON RARE IN EUROPE: Bladder cancer True True True -Orphanet:158661 OBSOLETE: Suprabasal epidermolysis bullosa simplex True True True Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex True True True Orphanet:158793 OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia True True True Orphanet:158796 OBSOLETE: Classic mast cell leukemia True True True Orphanet:162521 OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly True True True -Orphanet:163892 OBSOLETE: Limbic encephalitis True True True Orphanet:163895 OBSOLETE: Paraneoplastic limbic encephalitis True True True -Orphanet:163898 OBSOLETE: Classic paraneoplastic limbic encephalitis True True True -Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens True True True -Orphanet:163908 OBSOLETE: Limbic encephalitis with LGI1 antibodies True True True Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies True True True Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis True True True -Orphanet:163924 OBSOLETE: Non-herpetic acute limbic encephalitis True True True Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type True True True Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations True True True Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body True True True Orphanet:166068 Pontocerebellar hypoplasia type 5 True True True Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome True True True Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure True True True -Orphanet:171201 OBSOLETE: High isolated anorectal malformation True True True Orphanet:171208 OBSOLETE: Intermediate isolated anorectal malformation True True True -Orphanet:171215 OBSOLETE: Low isolated anorectal malformation True True True Orphanet:171676 NON RARE IN EUROPE: Periventricular leukomalacia True True True Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome True True True Orphanet:171860 OBSOLETE:Intellectual disability-cataracts-kyphosis syndrome True True True @@ -10365,12 +10398,10 @@ Orphanet:216445 Prelingual non-syndromic genetic deafness True True True Orphanet:216452 Postlingual non-syndromic genetic deafness True True True Orphanet:2168 Homocarnosinosis True True True Orphanet:217023 OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly True True True -Orphanet:217601 OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training True True True Orphanet:2190 OBSOLETE: Congenital hydronephrosis True True True Orphanet:221106 OBSOLETE: Isolated facial myokymia True True True Orphanet:221150 OBSOLETE: Pitt-Hopkins-like syndrome True True True Orphanet:2227 NON RARE IN EUROPE: Hypodontia True True True -Orphanet:226310 OBSOLETE: Peripheral hypothyroidism True True True Orphanet:2267 OBSOLETE: Ichthyosis-cheek-eyebrow syndrome True True True Orphanet:227786 OBSOLETE: Familial flecked retinopathy True True True Orphanet:228315 OBSOLETE: Idiopathic hypersomnia with long sleep time True True True @@ -10379,7 +10410,6 @@ Orphanet:228429 Generalized congenital lipodystrophy with myopathy True True Tru Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome True True True Orphanet:231537 Hermansky-Pudlak syndrome type 8 True True True Orphanet:2335 NON RARE IN EUROPE: Isolated keratoconus True True True -Orphanet:2343 OBSOLETE: Isolated cloverleaf skull syndrome True True True Orphanet:2355 Kumar-Levick syndrome True True True Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease True True True Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome True True True @@ -10389,9 +10419,7 @@ Orphanet:243761 NON RARE IN EUROPE: Essential hypertension True True True Orphanet:2453 Malpuech syndrome True True True Orphanet:2454 OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome True True True Orphanet:247839 OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies True True True -Orphanet:247846 OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies True True True Orphanet:247854 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies True True True -Orphanet:247861 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies True True True Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency True True True Orphanet:2506 Michels syndrome True True True Orphanet:251633 OBSOLETE: Low-grade ependymoma True True True @@ -10419,7 +10447,6 @@ Orphanet:2716 OBSOLETE: Oculo-skeletal-renal syndrome True True True Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome True True True Orphanet:275534 OBSOLETE: Myostatin-related muscle hypertrophy True True True Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia True True True -Orphanet:276402 OBSOLETE: Limbic encephalitis with caspr2 antibodies True True True Orphanet:276624 OBSOLETE: Sporadic pheochromocytoma True True True Orphanet:276627 OBSOLETE: Sporadic secreting paraganglioma True True True Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration True True True @@ -10530,14 +10557,7 @@ Orphanet:2998 Carnevale syndrome True True True Orphanet:3022 Rapp-Hodgkin syndrome True True True Orphanet:3056 X-linked intellectual disability, Brooks type True True True Orphanet:3062 OBSOLETE: X-linked intellectual disability, Schutz type True True True -Orphanet:306436 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance True True True -Orphanet:306446 OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance True True True -Orphanet:306462 OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance True True True -Orphanet:306474 OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance True True True -Orphanet:306486 OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance True True True Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome True True True -Orphanet:306519 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria True True True -Orphanet:306522 OBSOLETE: Genetic primary hypomagnesemia with normocalciuria True True True Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary True True True Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome True True True Orphanet:306597 OBSOLETE: X-linked Opitz G/BBB syndrome True True True @@ -10545,7 +10565,6 @@ Orphanet:3067 OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial a Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature True True True Orphanet:3105 Robinow-like syndrome True True True Orphanet:3128 OBSOLETE: Sakati-Nyhan syndrome True True True -Orphanet:3133 OBSOLETE: Say-Field-Coldwell syndrome True True True Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease True True True Orphanet:3140 NON RARE IN EUROPE: Schizophrenia True True True Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus True True True @@ -10565,12 +10584,9 @@ Orphanet:324999 JMP syndrome True True True Orphanet:325004 CANDLE syndrome True True True Orphanet:3267 OBSOLETE: Familial lambdoid synostosis True True True Orphanet:3289 NON RARE IN EUROPE: Taurodontism True True True -Orphanet:329252 OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome True True True Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency True True True -Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies True True True Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True Orphanet:3315 OBSOLETE: Thiopurine S-methyltransferase deficiency True True True -Orphanet:3323 Braddock-Carey syndrome True True True Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease True True True Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus True True True Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries True True True @@ -10581,14 +10597,11 @@ Orphanet:34145 NON RARE IN EUROPE: Berger disease True True True Orphanet:3444 Watson syndrome True True True Orphanet:3450 Weissenbacher-Zweymuller syndrome True True True Orphanet:34521 Distal myopathy with early respiratory muscle involvement True True True -Orphanet:34526 OBSOLETE: Genetic primary hypomagnesemia True True True -Orphanet:34527 OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia True True True Orphanet:3460 Torg-Winchester syndrome True True True Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria True True True Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes True True True Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection True True True Orphanet:35065 OBSOLETE: Idiopathic severe pneumococcemia True True True -Orphanet:35098 OBSOLETE: Isolated plagiocephaly True True True Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome True True True Orphanet:352740 Ocular albinism with congenital sensorineural deafness True True True Orphanet:35688 OBSOLETE: Madelung deformity True True True @@ -10624,7 +10637,6 @@ Orphanet:45360 NON RARE IN EUROPE: Menière disease True True True Orphanet:457252 Squamous cell carcinoma of the oral tongue True True True Orphanet:458713 NON RARE IN EUROPE: Specific language impairment True True True Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies True True True -Orphanet:459353 OBSOLETE: C1 inhibitor deficiency True True True Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria True True True Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis True True True Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris True True True @@ -10651,7 +10663,6 @@ Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure True True True Orphanet:620 NON RARE IN EUROPE: Common mesentery True True True Orphanet:623 NAME syndrome True True True Orphanet:625 NON RARE IN EUROPE: Atypical mole True True True -Orphanet:63440 OBSOLETE: Isolated oxycephaly True True True Orphanet:64738 NON RARE IN EUROPE: Non rare thrombophilia True True True Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis True True True Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus True True True @@ -10673,7 +10684,6 @@ Orphanet:79132 OBSOLETE: Sparse hair-short stature-skin anomalies syndrome True Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture True True True Orphanet:79211 OBSOLETE: Combined hyperlipidemia True True True Orphanet:79383 OBSOLETE: Lymphedema True True True -Orphanet:79459 OBSOLETE: Follicular atrophoderma-basal cell carcinoma True True True Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome True True True Orphanet:79486 Cystic hygroma True True True Orphanet:79504 Ichthyosis hystrix gravior True True True @@ -10696,14 +10706,12 @@ Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor True True True Orphanet:89832 OBSOLETE: Syndromic lymphedema True True True Orphanet:89839 OBSOLETE: Epidermolysis bullosa simplex superficialis True True True Orphanet:89840 OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type True True True -Orphanet:89841 OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa True True True Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis True True True Orphanet:90290 CREST syndrome True True True Orphanet:90339 OBSOLETE: Rosselli-Gulienetti syndrome True True True Orphanet:90341 Early-onset sarcoidosis True True True Orphanet:90649 Orofaciodigital syndrome type 7 True True True Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome True True True -Orphanet:91133 OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome True True True Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans True True True Orphanet:93206 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis True True True Orphanet:93207 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change True True True @@ -10727,7 +10735,6 @@ Orphanet:93576 OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomal Orphanet:93578 OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly True True True Orphanet:93579 OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly True True True Orphanet:93580 OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly True True True -Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome True True True Orphanet:93682 OBSOLETE: Pediatric Castleman disease True True True Orphanet:93937 OBSOLETE: Terminal transverse defects of arm True True True Orphanet:93942 OBSOLETE: Superior celosomia True True True @@ -10741,16 +10748,12 @@ Orphanet:93972 Juberg-Marsidi syndrome True True True Orphanet:93973 Carpenter-Waziri syndrome True True True Orphanet:93974 Smith-Fineman-Myers syndrome True True True Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome True True True -Orphanet:94095 OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome True True True -Orphanet:946 OBSOLETE: Acrocephalosyndactyly True True True Orphanet:95449 OBSOLETE: Congenital aortic valve insufficiency True True True -Orphanet:95458 OBSOLETE: Tricuspid valve prolapse True True True Orphanet:95484 OBSOLETE: Aneurysm or dilatation of ascending aorta True True True Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery True True True Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause True True True Orphanet:96136 OBSOLETE: Non-distal monosomy 7p True True True Orphanet:96152 OBSOLETE: Distal monosomy 20q True True True -Orphanet:96164 OBSOLETE: Non-distal monosomy 20q True True True Orphanet:965 Acromegaloid facial appearance syndrome True True True Orphanet:966 Hypertrichosis-acromegaloid facial appearance syndrome True True True Orphanet:97231 Ligneous conjunctivitis True True True @@ -10760,7 +10763,6 @@ Orphanet:97555 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrom Orphanet:97556 Congenital and infantile nephrotic syndrome True True True Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria True True True Orphanet:97927 OBSOLETE: Peripheral resistance to thyroid hormones True True True -Orphanet:98253 OBSOLETE: Postinfectious encephalitis True True True Orphanet:98345 OBSOLETE: Rare idiopathic male infertility True True True Orphanet:98464 OBSOLETE: X-linked syndromic intellectual disability True True True Orphanet:98520 OBSOLETE: Cystic malformation of the posterior fossa True True True @@ -10814,7 +10816,6 @@ Orphanet:98662 OBSOLETE: Unclassified familial retinal dystrophy True True True Orphanet:98664 OBSOLETE: Genetic macular dystrophy True True True Orphanet:98665 OBSOLETE: Colobomatous and areolar dystrophy True True True Orphanet:98666 OBSOLETE: Unclassified primitive or secondary maculopathy True True True -Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration True True True Orphanet:98669 OBSOLETE: Congenital vitreoretinal dysplasia True True True Orphanet:98682 NON RARE IN EUROPE: Essential strabismus True True True Orphanet:98689 OBSOLETE: Myopathy with eye involvement True True True @@ -10845,7 +10846,6 @@ Orphanet:98894 Congenital muscular dystrophy type 1D True True True Orphanet:98941 OBSOLETE: Von Hippel anomaly True True True Orphanet:99022 OBSOLETE: Niemann-Pick disease type E True True True Orphanet:99066 OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome True True True -Orphanet:99069 OBSOLETE: Univentricular heart with single atrio-ventricular valve True True True Orphanet:99085 OBSOLETE: Coronary artery intramyocardial course True True True Orphanet:99086 OBSOLETE: Aortopulmonary coronary arterial course True True True Orphanet:99088 OBSOLETE: Intramural coronary arterial course True True True diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index ae45943d..bd28b13a 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -1,11 +1,6 @@ subject_id subject_label -Orphanet:623801 Acute flaccid myelitis -Orphanet:617304 Amniotic fluid embolism -Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations Orphanet:522540 Anterior segment developmental anomaly of genetic origin Orphanet:449306 Antibiotic therapy dose selection -Orphanet:622014 Autoimmune encephalitis -Orphanet:623615 Autoimmune limbic encephalitis Orphanet:319719 Autoinflammatory syndrome of childhood Orphanet:631068 Autosomal dominant spastic paraplegia type 80 Orphanet:631073 Autosomal recessive spastic paraplegia type 82 @@ -14,30 +9,11 @@ Orphanet:631079 Autosomal recessive spastic paraplegia type 84 Orphanet:631082 Autosomal recessive spastic paraplegia type 85 Orphanet:631085 Autosomal recessive spastic paraplegia type 86 Orphanet:631088 Autosomal recessive spastic paraplegia type 87 -Orphanet:620217 Bartter syndrome type 1 -Orphanet:620220 Bartter syndrome type 2 -Orphanet:623789 Body integrity dysphoria -Orphanet:619972 CADINS disease Orphanet:633028 CPE-related Prader-Willi-like syndrome Orphanet:631251 Cancer of unknown primary site -Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency -Orphanet:617408 Classic eosinophilic pustular folliculitis -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -Orphanet:498491 Complete hemimelia Orphanet:306644 Complication after organ transplantation -Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -Orphanet:519333 Congenital optic disc excavation Orphanet:522514 Congenital optic disc excavation of genetic origin -Orphanet:617910 Conjunctival malignant melanoma -Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:519337 Disorder with optic nerve compression -Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome -Orphanet:617919 F12-associated cold autoinflammatory syndrome -Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency -Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:325697 Genetic 46,XX disorder of sex development Orphanet:325706 Genetic 46,XY disorder of sex development Orphanet:325713 Genetic 46,XY disorder of sex development of endocrine origin @@ -59,14 +35,9 @@ Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major fea Orphanet:269567 Genetic syndrome with a cerebellar malformation as a major feature Orphanet:404574 Genetic syndrome with limb reduction defects Orphanet:254685 Gestational trophoblastic disease -Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood -Orphanet:617930 Hemophilia B Leyden -Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:623638 Immune-mediated cerebellar ataxia -Orphanet:619340 Inherited hematologic cancer-predisposing syndrome Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome Orphanet:633124 Invasive scopulariopsis infection Orphanet:519300 Isolated chorioretinal dystrophy @@ -75,7 +46,6 @@ Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short s Orphanet:522534 Lacrimal drainage system anomaly of genetic origin Orphanet:522552 Lens position anomaly of genetic origin Orphanet:522550 Lens size anomaly of genetic origin -Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia Orphanet:565785 Methotrexate dose selection Orphanet:631248 Mitchell Syndrome Orphanet:90056 Moderate and severe traumatic brain injury @@ -83,40 +53,15 @@ Orphanet:634511 Mosaic Legius syndrome Orphanet:634475 Mosaic NF2-related schwannomatosis Orphanet:634461 Mosaic neurofibromatosis type 1 Orphanet:634492 Mosaic schwannomatosis -Orphanet:619284 Narcolepsy -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Orphanet:634518 Neurofibromatosis/schwannomatosis Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect -Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies -Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies -Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies -Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies -Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies -Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies -Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis -Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis -Orphanet:620178 Non-syndromic bilambdoid craniosynostosis -Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis -Orphanet:620152 Non-syndromic multisutural craniosynostosis -Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis -Orphanet:620212 Non-syndromic pansynostosis -Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis -Orphanet:620102 Non-syndromic unicoronal craniosynostosis -Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis -Orphanet:620113 Non-syndromic unilambdoid craniosynostosis -Orphanet:620146 Non-syndromic unisquamosal craniosynostosis -Orphanet:620096 Non-syndromic unisutural craniosynostosis Orphanet:633099 PAICS deficiency -Orphanet:617440 Painful legs and moving toes syndrome -Orphanet:623626 Paraneoplastic cerebellar degeneration -Orphanet:624190 Paraneoplastic isolated brainstem encephalitis Orphanet:523000 Pediatric-onset glaucoma Orphanet:324939 Periodic fever syndrome of childhood -Orphanet:624244 Postinfectious cerebellitis Orphanet:633211 Preaxial digit brachydactyly-webbed fingers Orphanet:619277 Prediction of antihistamines toxicity Orphanet:529828 Prediction of enzalutamide toxicity @@ -134,7 +79,6 @@ Orphanet:596747 Prediction of toxicity or dose selection of eliglustat Orphanet:413681 Prediction of toxicity or dose selection of oral antidiabetic drugs Orphanet:413687 Prediction of toxicity or dose selection of thiopurine drugs Orphanet:413674 Prediction of toxicity or dose selection of vitamin K antagonists -Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:633228 Proximal femoral focal deficiency Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood Orphanet:626609 Rare andrological tumor @@ -178,8 +122,6 @@ Orphanet:519315 Rare retinal disorder Orphanet:519317 Rare retinal vasculopathy Orphanet:519298 Rare scleral disorder Orphanet:519353 Rare trochlear nerve disorder -Orphanet:619367 SAMD9L-associated autoinflammatory syndrome -Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome @@ -190,25 +132,19 @@ Orphanet:357194 Selection of therapeutic option in colorectal cancer Orphanet:544260 Selection of therapeutic option in melanoma Orphanet:357191 Selection of therapeutic option in non-small cell lung carcinoma Orphanet:618572 Selection of therapeutic option in ovarian cancer -Orphanet:617301 Selective intrauterine growth restriction Orphanet:631095 Spinocerebellar ataxia type 44 Orphanet:631103 Spinocerebellar ataxia type 48 Orphanet:631106 Spinocerebellar ataxia type 49 Orphanet:633076 Split cord malformation, composite type Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -Orphanet:622099 Superior mesenteric artery syndrome Orphanet:519321 Syndromic chorioretinal dystrophy Orphanet:522548 Syndromic genetic cataract Orphanet:522520 Syndromic genetic disorder with strabismus Orphanet:522554 Syndromic genetic ectopia lentis Orphanet:522564 Syndromic genetic keratoconus Orphanet:519274 Syndromic lacrimal system disorder -Orphanet:519294 Syndromic microspherophakia Orphanet:241043 Tacrolimus dose selection -Orphanet:617294 Twin anemia-polycythemia sequence -Orphanet:617297 Twin-reversed arterial perfusion sequence Orphanet:481671 Type 1 interferonopathy of childhood Orphanet:324953 Unclassified autoinflammatory syndrome of childhood Orphanet:324960 Unexplained periodic fever syndrome of childhood -Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection Orphanet:C001 diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index 6b639b89..1b4fa8b5 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -1,118 +1,52 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % MONDO:0850061 nipah virus encephalitis DOID:0050192 MONDO:equivalentTo Nipah virus encephalitis MONDO:0005108 -MONDO:0850062 atypical autism DOID:0060042 MONDO:equivalentTo atypical autism MONDO:0005258 -MONDO:0850063 amyotrophic lateral sclerosis type 13 DOID:0060204 MONDO:equivalentTo amyotrophic lateral sclerosis type 13 MONDO:0004976 MONDO:0850085 autosomal dominant dyskeratosis congenita 4 DOID:0070020 MONDO:equivalentTo autosomal dominant dyskeratosis congenita 4 MONDO:0015780|MONDO:0000426 MONDO:0850091 hereditary lymphedema i DOID:0070212 MONDO:equivalentTo hereditary lymphedema I MONDO:0019313 -MONDO:0850092 post-cardiac arrest syndrome DOID:0070306 MONDO:equivalentTo post-cardiac arrest syndrome MONDO:0002254 -MONDO:0850093 absence epilepsy DOID:0070309 MONDO:equivalentTo absence epilepsy MONDO:0000411 MONDO:0850094 drug-induced hearing loss DOID:0070310 MONDO:equivalentTo drug-induced hearing loss MONDO:0019497 MONDO:0850098 oligoasthenoteratozoospermia DOID:0070311 MONDO:equivalentTo oligoasthenoteratozoospermia MONDO:0005372 -MONDO:0850101 spitzoid melanoma DOID:0070326 MONDO:equivalentTo spitzoid melanoma MONDO:0005012 -MONDO:0850110 melanoma in congenital melanocytic nevus DOID:0070327 MONDO:equivalentTo melanoma in congenital melanocytic nevus MONDO:0005012 MONDO:0850111 mitochondrial dna depletion syndrome 8b DOID:0070331 MONDO:equivalentTo mitochondrial DNA depletion syndrome 8b MONDO:0018158|MONDO:0006025 -MONDO:0850112 breast implant-associated anaplastic large cell lymphoma DOID:0070333 MONDO:equivalentTo breast implant-associated anaplastic large cell lymphoma MONDO:0000430 MONDO:0850113 neonatal-onset type ii citrullinemia DOID:0070341 MONDO:equivalentTo neonatal-onset type II citrullinemia A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. MONDO:0015991|MONDO:0006025 -MONDO:0850114 csf1r-related brain malformation and osteopetrosis DOID:0070343 MONDO:equivalentTo CSF1R-related brain malformation and osteopetrosis A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. MONDO:0002283 -MONDO:0850116 spinal muscular atrophy with lower extremity predominant DOID:0070348 MONDO:equivalentTo spinal muscular atrophy with lower extremity predominant A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. MONDO:0001516|MONDO:0000426 -MONDO:0850117 primary biliary cholangitis 1 DOID:0070358 MONDO:equivalentTo primary biliary cholangitis 1 MONDO:0005388 -MONDO:0850118 primary biliary cholangitis 2 DOID:0070359 MONDO:equivalentTo primary biliary cholangitis 2 MONDO:0005388 -MONDO:0850119 primary biliary cholangitis 3 DOID:0070360 MONDO:equivalentTo primary biliary cholangitis 3 MONDO:0005388 -MONDO:0850120 primary biliary cholangitis 4 DOID:0070361 MONDO:equivalentTo primary biliary cholangitis 4 MONDO:0005388 -MONDO:0850121 primary biliary cholangitis 5 DOID:0070362 MONDO:equivalentTo primary biliary cholangitis 5 MONDO:0005388 MONDO:0850122 solid adenocarcinoma with mucin production DOID:0080306 MONDO:equivalentTo solid adenocarcinoma with mucin production MONDO:0005061 MONDO:0850123 autonomic nervous system benign neoplasm DOID:0080321 MONDO:equivalentTo autonomic nervous system benign neoplasm MONDO:0056804 -MONDO:0850124 hepatobiliary system cancer DOID:0080355 MONDO:equivalentTo hepatobiliary system cancer MONDO:0002516 -MONDO:0850125 malignant adenoma DOID:0080364 MONDO:equivalentTo malignant adenoma A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. MONDO:0004992 MONDO:0850126 testicular sex cord-stromal benign neoplasm DOID:0080371 MONDO:equivalentTo testicular sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. MONDO:0024988 MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma DOID:0080372 MONDO:equivalentTo epithelioid inflammatory myofibroblastic sarcoma MONDO:0015798 -MONDO:0850128 epididymis disease DOID:0080373 MONDO:equivalentTo epididymis disease A male reproductive system disease that is located_in the epididymis. MONDO:0003150 -MONDO:0850129 gastroesophageal cancer DOID:0080374 MONDO:equivalentTo gastroesophageal cancer MONDO:0002516 -MONDO:0850130 gastroesophageal adenocarcinoma DOID:0080375 MONDO:equivalentTo gastroesophageal adenocarcinoma MONDO:0004970 -MONDO:0850131 nephrotic syndrome type 5 DOID:0080380 MONDO:equivalentTo nephrotic syndrome type 5 MONDO:0002350|MONDO:0006025 -MONDO:0850132 nephrotic syndrome type 1 DOID:0080390 MONDO:equivalentTo nephrotic syndrome type 1 MONDO:0002350|MONDO:0006025 MONDO:0850133 orofacial cleft 14 DOID:0080407 MONDO:equivalentTo orofacial cleft 14 MONDO:0006025|MONDO:0000358 -MONDO:0850134 familial adenomatous polyposis 2 DOID:0080410 MONDO:equivalentTo familial adenomatous polyposis 2 MONDO:0021055|MONDO:0006025 -MONDO:0850135 familial adenomatous polyposis 3 DOID:0080411 MONDO:equivalentTo familial adenomatous polyposis 3 MONDO:0006025|MONDO:0021055 MONDO:0850136 leukocyte adhesion deficiency 2 DOID:0080492 MONDO:equivalentTo leukocyte adhesion deficiency 2 MONDO:0017570 -MONDO:0850137 multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 MONDO:equivalentTo multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0002525 MONDO:0850138 epidermolysis bullosa simplex generalized type DOID:0080511 MONDO:equivalentTo epidermolysis bullosa simplex generalized type MONDO:0017610|MONDO:0000426 MONDO:0850139 non-alcoholic fatty liver DOID:0080546 MONDO:equivalentTo non-alcoholic fatty liver MONDO:0013209 MONDO:0850140 congenital disorder of glycosylation iy DOID:0080574 MONDO:equivalentTo congenital disorder of glycosylation Iy MONDO:0020605|MONDO:0005500 MONDO:0850141 polygenic disease DOID:0080577 MONDO:equivalentTo polygenic disease MONDO:0003847 MONDO:0850142 hyper ige recurrent infection syndrome 2 DOID:0080594 MONDO:equivalentTo hyper IgE recurrent infection syndrome 2 MONDO:0018037|MONDO:0006025 -MONDO:0850143 kleefstra syndrome DOID:0080597 MONDO:equivalentTo Kleefstra syndrome A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. MONDO:0002254 MONDO:0850144 germ cell benign neoplasm DOID:0080601 MONDO:equivalentTo germ cell benign neoplasm A benign neoplasm that derives_from germ cells. MONDO:0005165 -MONDO:0850145 anterior segment dysgenesis 1 DOID:0080606 MONDO:equivalentTo anterior segment dysgenesis 1 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. MONDO:0010015|MONDO:0000426 MONDO:0850146 anterior segment dysgenesis 2 DOID:0080607 MONDO:equivalentTo anterior segment dysgenesis 2 An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. MONDO:0010015|MONDO:0006025 MONDO:0850147 anterior segment dysgenesis 5 DOID:0080610 MONDO:equivalentTo anterior segment dysgenesis 5 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. MONDO:0010015 -MONDO:0850148 anterior segment dysgenesis 7 DOID:0080612 MONDO:equivalentTo anterior segment dysgenesis 7 An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. MONDO:0010015|MONDO:0006025 -MONDO:0850149 nephroma DOID:0080615 MONDO:equivalentTo nephroma A kidney benign neoplasm that is located_in the kidney cortex. MONDO:0002513 MONDO:0850150 kidney cortex disease DOID:0080616 MONDO:equivalentTo kidney cortex disease A kidney disease that is located_in the kidney cortex. MONDO:0005240 -MONDO:0850151 lymph node carcinoma DOID:0080618 MONDO:equivalentTo lymph node carcinoma A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. MONDO:0004993|MONDO:0001082 -MONDO:0850152 auditory system benign neoplasm DOID:0080619 MONDO:equivalentTo auditory system benign neoplasm A sensory system benign neoplasm that is located in the auditory system. MONDO:0002409|MONDO:0000633 -MONDO:0850153 b-cell acute lymphoblastic leukemia DOID:0080638 MONDO:equivalentTo B-cell acute lymphoblastic leukemia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. MONDO:0004967|MONDO:0005062 -MONDO:0850154 tongue carcinoma DOID:0080641 MONDO:equivalentTo tongue carcinoma MONDO:0004631|MONDO:0004993 -MONDO:0850155 b-lymphoblastic leukemia/lymphoma with bcr-abl1 DOID:0080643 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with BCR-ABL1 A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. MONDO:0004947 -MONDO:0850156 b-lymphoblastic leukemia/lymphoma mll rearranged DOID:0080644 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma MLL rearranged A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. MONDO:0004947 -MONDO:0850157 b-lymphoblastic leukemia/lymphoma with etv6-runx1 DOID:0080645 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. MONDO:0004947 -MONDO:0850158 b-lymphoblastic leukemia/lymphoma with hyperdiploidy DOID:0080646 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hyperdiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. MONDO:0004947 -MONDO:0850159 b-lymphoblastic leukemia/lymphoma with hypodiploidy DOID:0080647 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hypodiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. MONDO:0004947 -MONDO:0850160 b-lymphoblastic leukemia/lymphoma with il3-igh DOID:0080648 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with IL3-IGH A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). MONDO:0004947 -MONDO:0850161 b-lymphoblastic leukemia/lymphoma, bcr-abl1–like DOID:0080650 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. MONDO:0004947 -MONDO:0850162 b-lymphoblastic leukemia/lymphoma with iamp21 DOID:0080651 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with iAMP21 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. MONDO:0004947 MONDO:0850163 calcium oxalate nephrolithiasis DOID:0080652 MONDO:equivalentTo calcium oxalate nephrolithiasis A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. MONDO:0008171 MONDO:0850164 nonsyndromic aplasia cutis congenita DOID:0080661 MONDO:equivalentTo nonsyndromic aplasia cutis congenita A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. MONDO:0005093 -MONDO:0850165 atrial standstill 1 DOID:0080662 MONDO:equivalentTo atrial standstill 1 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. MONDO:0000992|MONDO:0000426 -MONDO:0850166 atrial standstill 2 DOID:0080663 MONDO:equivalentTo atrial standstill 2 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. MONDO:0000992|MONDO:0006025 -MONDO:0850167 diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 MONDO:equivalentTo diaphyseal medullary stenosis with malignant fibrous histiocytoma An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. MONDO:0000426|MONDO:0005516 MONDO:0850168 warfarin resistance DOID:0080665 MONDO:equivalentTo warfarin resistance An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. MONDO:0019052 MONDO:0850169 warfarin sensitivity DOID:0080666 MONDO:equivalentTo warfarin sensitivity An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. MONDO:0019052|MONDO:0000426 MONDO:0850170 spinal muscular atrophy type 0 DOID:0080667 MONDO:equivalentTo spinal muscular atrophy type 0 A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. MONDO:0009669 MONDO:0850171 posterior polymorphous corneal dystrophy 4 DOID:0080669 MONDO:equivalentTo posterior polymorphous corneal dystrophy 4 A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. MONDO:0020364|MONDO:0000426 MONDO:0850172 meesmann corneal dystrophy 1 DOID:0080670 MONDO:equivalentTo Meesmann corneal dystrophy 1 A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. MONDO:0007379|MONDO:0000426 MONDO:0850173 meesmann corneal dystrophy 2 DOID:0080671 MONDO:equivalentTo Meesmann corneal dystrophy 2 A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. MONDO:0007379|MONDO:0000426 -MONDO:0850174 fibrochondrogenesis 1 DOID:0080672 MONDO:equivalentTo fibrochondrogenesis 1 A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. MONDO:0016068|MONDO:0006025 -MONDO:0850175 fibrochondrogenesis 2 DOID:0080673 MONDO:equivalentTo fibrochondrogenesis 2 A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. MONDO:0016068|MONDO:0006025|MONDO:0000426 -MONDO:0850176 luminal breast carcinoma b DOID:0080674 MONDO:equivalentTo luminal breast carcinoma B A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. MONDO:0004989 MONDO:0850177 stickler syndrome 2 DOID:0080675 MONDO:equivalentTo Stickler syndrome 2 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. MONDO:0019354|MONDO:0000426 MONDO:0850178 stickler syndrome 1 DOID:0080676 MONDO:equivalentTo Stickler syndrome 1 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. MONDO:0019354|MONDO:0000426 -MONDO:0850179 otospondylomegaepiphyseal dysplasia, autosomal dominant DOID:0080677 MONDO:equivalentTo otospondylomegaepiphyseal dysplasia, autosomal dominant An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. MONDO:0005516|MONDO:0000426 MONDO:0850180 mucolipidosis iii gamma DOID:0080678 MONDO:equivalentTo mucolipidosis III gamma A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. MONDO:0019248|MONDO:0006025 -MONDO:0850181 neuronal intestinal dysplasia type a DOID:0080679 MONDO:equivalentTo neuronal intestinal dysplasia type A An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. MONDO:0000858 -MONDO:0850182 neuronal intestinal dysplasia type b DOID:0080680 MONDO:equivalentTo neuronal intestinal dysplasia type B An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. MONDO:0000858 -MONDO:0850183 x-linked chronic idiopathic intestinal pseudo-obstruction DOID:0080681 MONDO:equivalentTo X-linked chronic idiopathic intestinal pseudo-obstruction An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. MONDO:0000858|MONDO:0020605 -MONDO:0850184 autosomal dominant familial visceral neuropathy DOID:0080682 MONDO:equivalentTo autosomal dominant familial visceral neuropathy An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. MONDO:0000858|MONDO:0000426 -MONDO:0850185 nonsyndromic congenital nail disorder DOID:0080683 MONDO:equivalentTo nonsyndromic congenital nail disorder A nail disease that is characterized by underdevelopment of nails. MONDO:0002884 MONDO:0850186 aortic dissection DOID:0080685 MONDO:equivalentTo aortic dissection An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. MONDO:0005561 MONDO:0850187 tubular aggregate myopathy 2 DOID:0080686 MONDO:equivalentTo tubular aggregate myopathy 2 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. MONDO:0005336|MONDO:0000426 MONDO:0850188 reducing body myopathy 1b DOID:0080687 MONDO:equivalentTo reducing body myopathy 1B A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. MONDO:0005336|MONDO:0000425 -MONDO:0850189 mosaic variegated aneuploidy syndrome DOID:0080688 MONDO:equivalentTo mosaic variegated aneuploidy syndrome A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. MONDO:0002254 -MONDO:0850190 rasopathy DOID:0080690 MONDO:equivalentTo RASopathy A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. MONDO:0002254 -MONDO:0850191 burn-mckeown syndrome DOID:0080695 MONDO:equivalentTo Burn-McKeown syndrome "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, -hearing loss, heart abnormalities, and short stature." MONDO:0002254 -MONDO:0850192 winchester syndrome DOID:0080696 MONDO:equivalentTo Winchester syndrome A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. MONDO:0002254 MONDO:0850193 opitz gbbb syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. MONDO:0020605|MONDO:0002254 -MONDO:0850194 glutathione synthetase deficiency DOID:0080699 MONDO:equivalentTo glutathione synthetase deficiency An amino acid metabolic disorder characterized by the lack of glutathione production. MONDO:0004736 -MONDO:0850195 prothrombin thrombophilia DOID:0080701 MONDO:equivalentTo prothrombin thrombophilia A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. MONDO:0002305|MONDO:0000426 MONDO:0850196 medulloblastoma wnt activated DOID:0080702 MONDO:equivalentTo medulloblastoma WNT activated A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. MONDO:0007959 MONDO:0850197 medulloblastoma shh activated DOID:0080703 MONDO:equivalentTo medulloblastoma SHH activated A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. MONDO:0007959 MONDO:0850198 medulloblastoma non-wnt/non-shh DOID:0080706 MONDO:equivalentTo medulloblastoma non-WNT/non-SHH A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. MONDO:0007959 -MONDO:0850199 nk cell deficiency DOID:0080709 MONDO:equivalentTo NK cell deficiency A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. MONDO:0003778 -MONDO:0850200 t cell and nk cell immunodeficiency DOID:0080710 MONDO:equivalentTo T cell and NK cell immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. MONDO:0003778 -MONDO:0850201 hereditary alpha tryptasemia syndrome DOID:0080714 MONDO:equivalentTo hereditary alpha tryptasemia syndrome MONDO:0002254 MONDO:0850202 infantile liver failure syndrome DOID:0080716 MONDO:equivalentTo infantile liver failure syndrome A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. MONDO:0005154|MONDO:0002254 -MONDO:0850203 gne myopathy DOID:0080718 MONDO:equivalentTo GNE myopathy A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. MONDO:0006025|MONDO:0005336 MONDO:0850204 proximal myopathy and ophthalmoplegia DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13. MONDO:0005336 -MONDO:0850205 autosomal dominant congenital deafness with onychodystrophy DOID:0080720 MONDO:equivalentTo autosomal dominant congenital deafness with onychodystrophy A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. MONDO:0002254|MONDO:0000426 MONDO:0850206 calvarial doughnut lesions with bone fragility DOID:0080721 MONDO:equivalentTo calvarial doughnut lesions with bone fragility An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. MONDO:0005516 -MONDO:0850207 kenny-caffey syndrome DOID:0080724 MONDO:equivalentTo Kenny-Caffey syndrome A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. MONDO:0005516|MONDO:0002254 MONDO:0850208 basan syndrome DOID:0080725 MONDO:equivalentTo BASAN syndrome An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. MONDO:0019287 MONDO:0850209 ehlers-danlos syndrome classic type 2 DOID:0080726 MONDO:equivalentTo Ehlers-Danlos syndrome classic type 2 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. MONDO:0020066|MONDO:0000426 MONDO:0850210 ehlers-danlos syndrome arthrochalasia type 1 DOID:0080727 MONDO:equivalentTo Ehlers-Danlos syndrome arthrochalasia type 1 An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21. MONDO:0020066|MONDO:0000426 MONDO:0850211 ehlers-danlos syndrome arthrochalasia type 2 DOID:0080728 MONDO:equivalentTo Ehlers-Danlos syndrome arthrochalasia type 2 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. MONDO:0020066|MONDO:0000426 -MONDO:0850212 brittle cornea syndrome 2 DOID:0080729 MONDO:equivalentTo brittle cornea syndrome 2 An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. MONDO:0020066|MONDO:0000942|MONDO:0006025 MONDO:0850213 ehlers-danlos syndrome cardiac valvular type DOID:0080730 MONDO:equivalentTo Ehlers-Danlos syndrome cardiac valvular type An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. MONDO:0020066|MONDO:0006025 MONDO:0850214 ehlers-danlos syndrome classic-like 1 DOID:0080731 MONDO:equivalentTo Ehlers-Danlos syndrome classic-like 1 An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. MONDO:0020066|MONDO:0006025 MONDO:0850215 ehlers-danlos syndrome classic-like 2 DOID:0080732 MONDO:equivalentTo Ehlers-Danlos syndrome classic-like 2 An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. MONDO:0020066|MONDO:0006025 @@ -124,65 +58,25 @@ MONDO:0850219 ehlers-danlos syndrome musculocontractural type 1 DOID:0080736 MON MONDO:0850220 ehlers-danlos syndrome musculocontractural type 2 DOID:0080737 MONDO:equivalentTo Ehlers-Danlos syndrome musculocontractural type 2 An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. MONDO:0020066|MONDO:0006025 MONDO:0850221 ehlers-danlos syndrome spondylodysplastic type 1 DOID:0080738 MONDO:equivalentTo Ehlers-Danlos syndrome spondylodysplastic type 1 An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. MONDO:0020066|MONDO:0006025 MONDO:0850222 ehlers-danlos syndrome spondylodysplastic type 3 DOID:0080739 MONDO:equivalentTo Ehlers-Danlos syndrome spondylodysplastic type 3 An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. MONDO:0020066 -MONDO:0850223 libman-sacks endocarditis DOID:0080740 MONDO:equivalentTo Libman-Sacks endocarditis An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. MONDO:0005025|MONDO:0000603 -MONDO:0850224 limbic encephalitis DOID:0080741 MONDO:equivalentTo limbic encephalitis An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. MONDO:0019956|MONDO:0000568 MONDO:0850225 autoimmune cholangitis DOID:0080742 MONDO:equivalentTo autoimmune cholangitis An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. MONDO:0016264 -MONDO:0850226 transverse myelitis DOID:0080743 MONDO:equivalentTo transverse myelitis A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. MONDO:0002565 -MONDO:0850227 antisynthetase syndrome DOID:0080744 MONDO:equivalentTo antisynthetase syndrome An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. MONDO:0007179 -MONDO:0850228 polymyositis DOID:0080745 MONDO:equivalentTo polymyositis A myositis that is characterized by muscle weakness affecting both sides of your body. MONDO:0021167|MONDO:0000589 -MONDO:0850229 sweet syndrome DOID:0080746 MONDO:equivalentTo Sweet syndrome A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. MONDO:0005093|MONDO:0005271 MONDO:0850230 chronic urticaria DOID:0080747 MONDO:equivalentTo chronic urticaria An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. MONDO:0005492 MONDO:0850231 erythema nodosum DOID:0080750 MONDO:equivalentTo erythema nodosum A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. MONDO:0006591 -MONDO:0850232 keratosis pilaris atrophicans DOID:0080751 MONDO:equivalentTo keratosis pilaris atrophicans An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. MONDO:0019269|MONDO:0006025 -MONDO:0850233 fanconi renotubular syndrome 1 DOID:0080757 MONDO:equivalentTo Fanconi renotubular syndrome 1 A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. MONDO:0001083|MONDO:0000426 -MONDO:0850234 fanconi renotubular syndrome 2 DOID:0080758 MONDO:equivalentTo Fanconi renotubular syndrome 2 A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. MONDO:0001083|MONDO:0006025 -MONDO:0850235 fanconi renotubular syndrome 3 DOID:0080759 MONDO:equivalentTo Fanconi renotubular syndrome 3 A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. MONDO:0001083|MONDO:0000426 -MONDO:0850236 fanconi renotubular syndrome 4 DOID:0080760 MONDO:equivalentTo Fanconi renotubular syndrome 4 A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. MONDO:0001083|MONDO:0000426 -MONDO:0850237 fanconi renotubular syndrome 5 DOID:0080761 MONDO:equivalentTo Fanconi renotubular syndrome 5 A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. MONDO:0001083|MONDO:0006025 MONDO:0850238 autosomal recessive limb-girdle muscular dystrophy type 2z DOID:0080762 MONDO:equivalentTo autosomal recessive limb-girdle muscular dystrophy type 2Z An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. MONDO:0015152 MONDO:0850239 hereditary diffuse gastric cancer DOID:0080764 MONDO:equivalentTo hereditary diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. MONDO:0007648|MONDO:0000426 MONDO:0850240 autosomal recessive intellectual developmental disorder 72 DOID:0080765 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 72 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. MONDO:0019502 -MONDO:0850241 erythrokeratodermia variabilis et progressiva 6 DOID:0080766 MONDO:equivalentTo erythrokeratodermia variabilis et progressiva 6 An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. MONDO:0000426|MONDO:0017851 -MONDO:0850242 autoimmune myocarditis DOID:0080767 MONDO:equivalentTo autoimmune myocarditis An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. MONDO:0004496|MONDO:0000603 -MONDO:0850243 pyridoxine-dependent epilepsy DOID:0080768 MONDO:equivalentTo pyridoxine-dependent epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. MONDO:0006025|MONDO:0005027 MONDO:0850244 early-onset vitamin b6-dependent epilepsy DOID:0080769 MONDO:equivalentTo early-onset vitamin B6-dependent epilepsy An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. MONDO:0005027|MONDO:0006025 MONDO:0850245 autosomal dominant beta thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. MONDO:0019402|MONDO:0000426 -MONDO:0850246 beta-thalassemia major DOID:0080771 MONDO:equivalentTo beta-thalassemia major A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. MONDO:0019402 -MONDO:0850247 beta-thalassemia intermedia DOID:0080772 MONDO:equivalentTo beta-thalassemia intermedia A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. MONDO:0019402 MONDO:0850248 delta beta-thalassemia DOID:0080773 MONDO:equivalentTo delta beta-thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. MONDO:0019402|MONDO:0000426 -MONDO:0850249 thalassemia minor DOID:0080774 MONDO:equivalentTo thalassemia minor A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. MONDO:0019402 -MONDO:0850250 complete androgen insensitivity syndrome DOID:0080775 MONDO:equivalentTo complete androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. MONDO:0019154 -MONDO:0850251 partial androgen insensitivity syndrome DOID:0080776 MONDO:equivalentTo partial androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. MONDO:0019154|MONDO:0020605 -MONDO:0850252 lung sarcomatoid carcinoma DOID:0080777 MONDO:equivalentTo lung sarcomatoid carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. MONDO:0005138 MONDO:0850253 transient infantile liver failure DOID:0080778 MONDO:equivalentTo transient infantile liver failure A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. MONDO:0005154|MONDO:0006025 -MONDO:0850254 plasmablastic lymphoma DOID:0080779 MONDO:equivalentTo plasmablastic lymphoma A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. MONDO:0018905 -MONDO:0850255 acute erythroid leukemia DOID:0080780 MONDO:equivalentTo acute erythroid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. MONDO:0018874 -MONDO:0850256 benign exocrine pancreas neoplasm DOID:0080781 MONDO:equivalentTo benign exocrine pancreas neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. MONDO:0000627 MONDO:0850257 mucinous pancreas adenocarcinoma DOID:0080782 MONDO:equivalentTo mucinous pancreas adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. MONDO:0006047|MONDO:0004957 -MONDO:0850258 urinary tract infection DOID:0080784 MONDO:equivalentTo urinary tract infection An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. MONDO:0002118|MONDO:0005113 -MONDO:0850259 brown-vialetto-van laere syndrome 1 DOID:0080785 MONDO:equivalentTo Brown-Vialetto-Van Laere syndrome 1 A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. MONDO:0006025|MONDO:0008891 -MONDO:0850260 brown-vialetto-van laere syndrome 2 DOID:0080786 MONDO:equivalentTo Brown-Vialetto-Van Laere syndrome 2 A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. MONDO:0006025|MONDO:0008891 MONDO:0850261 proximal symphalangism 1 DOID:0080787 MONDO:equivalentTo proximal symphalangism 1 A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. MONDO:0008511 MONDO:0850262 proximal symphalangism 2 DOID:0080788 MONDO:equivalentTo proximal symphalangism 2 A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. MONDO:0008511 -MONDO:0850263 treacher collins syndrome 1 DOID:0080789 MONDO:equivalentTo Treacher Collins syndrome 1 A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. MONDO:0002457 -MONDO:0850264 treacher collins syndrome 2 DOID:0080790 MONDO:equivalentTo Treacher Collins syndrome 2 A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. MONDO:0002457|MONDO:0006025 -MONDO:0850265 treacher collins syndrome 3 DOID:0080791 MONDO:equivalentTo Treacher Collins syndrome 3 A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. MONDO:0002457|MONDO:0006025 -MONDO:0850266 treacher collins syndrome 4 DOID:0080792 MONDO:equivalentTo Treacher Collins syndrome 4 A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. MONDO:0002457 MONDO:0850267 childhood acute megakaryoblastic leukemia DOID:0080794 MONDO:equivalentTo childhood acute megakaryoblastic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. MONDO:0018872 -MONDO:0850268 acute basophilic leukemia DOID:0080795 MONDO:equivalentTo acute basophilic leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. MONDO:0018874 MONDO:0850269 core binding factor acute myeloid leukemia DOID:0080796 MONDO:equivalentTo core binding factor acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. MONDO:0018874 -MONDO:0850270 nasal type extranodal nk/t-cell lymphoma DOID:0080797 MONDO:equivalentTo nasal type extranodal NK/T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. MONDO:0001128|MONDO:0000430 MONDO:0850271 myeloid leukemia associated with down syndrome DOID:0080798 MONDO:equivalentTo myeloid leukemia associated with Down Syndrome An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. MONDO:0018872 -MONDO:0850272 sinonasal undifferentiated carcinoma DOID:0080799 MONDO:equivalentTo sinonasal undifferentiated carcinoma A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. MONDO:0003212|MONDO:0000380 -MONDO:0850273 salivary gland mucinous adenocarcinoma DOID:0080800 MONDO:equivalentTo salivary gland mucinous adenocarcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. MONDO:0004957|MONDO:0000521 MONDO:0850274 autosomal dominant craniometaphyseal dysplasia DOID:0080801 MONDO:equivalentTo autosomal dominant craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. MONDO:0015465|MONDO:0000426 MONDO:0850275 autosomal recessive craniometaphyseal dysplasia DOID:0080802 MONDO:equivalentTo autosomal recessive craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. MONDO:0015465|MONDO:0006025 -MONDO:0850276 cranioectodermal dysplasia 1 DOID:0080803 MONDO:equivalentTo cranioectodermal dysplasia 1 A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. MONDO:0009032 -MONDO:0850277 cranioectodermal dysplasia 2 DOID:0080804 MONDO:equivalentTo cranioectodermal dysplasia 2 A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. MONDO:0009032 -MONDO:0850278 cranioectodermal dysplasia 3 DOID:0080805 MONDO:equivalentTo cranioectodermal dysplasia 3 A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. MONDO:0009032 -MONDO:0850279 cranioectodermal dysplasia 4 DOID:0080806 MONDO:equivalentTo cranioectodermal dysplasia 4 A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. MONDO:0009032 MONDO:0850280 autosomal dominant craniodiaphyseal dysplasia DOID:0080807 MONDO:equivalentTo autosomal dominant craniodiaphyseal dysplasia A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. MONDO:0009031|MONDO:0000426 -MONDO:0850281 mammary analogue secretory carcinoma DOID:0080808 MONDO:equivalentTo mammary analogue secretory carcinoma A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. MONDO:0000521 MONDO:0850282 chronic asthma DOID:0080809 MONDO:equivalentTo chronic asthma An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. MONDO:0004979 MONDO:0850283 acute asthma DOID:0080810 MONDO:equivalentTo acute asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. MONDO:0004979 MONDO:0850284 extrinsic asthma DOID:0080811 MONDO:equivalentTo extrinsic asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. MONDO:0005271 @@ -190,27 +84,13 @@ MONDO:0850285 environmental induced asthma DOID:0080819 MONDO:equivalentTo envir MONDO:0850286 exercise-induced bronchoconstriction DOID:0080821 MONDO:equivalentTo exercise-induced bronchoconstriction An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. MONDO:0004765 MONDO:0850287 aspirin-induced respiratory disease DOID:0080822 MONDO:equivalentTo aspirin-induced respiratory disease An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. MONDO:0004765 MONDO:0850289 human cytomegalovirus infection DOID:0080827 MONDO:equivalentTo human cytomegalovirus infection A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. MONDO:0005108 -MONDO:0850290 vexas syndrome DOID:0080828 MONDO:equivalentTo VEXAS syndrome A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. MONDO:0002254 -MONDO:0850291 low grade glioma DOID:0080829 MONDO:equivalentTo low grade glioma A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). MONDO:0005560|MONDO:0002545|MONDO:0000628|MONDO:0005165 -MONDO:0850294 laryngomalacia DOID:0080833 MONDO:equivalentTo laryngomalacia A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. MONDO:0004382 -MONDO:0850295 acquired laryngomalacia DOID:0080834 MONDO:equivalentTo acquired laryngomalacia A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. MONDO:0004382 -MONDO:0850296 torch syndrome DOID:0080835 MONDO:equivalentTo TORCH syndrome A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. MONDO:0002254 -MONDO:0850297 growth hormone insensitivity syndrome with immune dysregulation 1 DOID:0080836 MONDO:equivalentTo growth hormone insensitivity syndrome with immune dysregulation 1 A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. MONDO:0002254|MONDO:0006025 -MONDO:0850298 growth hormone insensitivity syndrome with immune dysregulation 2 DOID:0080837 MONDO:equivalentTo growth hormone insensitivity syndrome with immune dysregulation 2 "A syndrome that is characterized by short stature due to insensitivity to growth hormone and -that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21." MONDO:0002254|MONDO:0000426 MONDO:0850299 x-linked warfarin sensitivity DOID:0080839 MONDO:equivalentTo X-linked warfarin sensitivity An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. MONDO:0019052 -MONDO:0850300 optic atrophy 12 DOID:0080840 MONDO:equivalentTo optic atrophy 12 An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. MONDO:0003608|MONDO:0000426 MONDO:0850301 pemphigoid DOID:0080841 MONDO:equivalentTo pemphigoid An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. MONDO:0019337 MONDO:0850302 intracranial meningioma DOID:0080842 MONDO:equivalentTo intracranial meningioma A meningioma that arises within the cranial cavity. MONDO:0016642 MONDO:0850303 supratentorial meningioma DOID:0080843 MONDO:equivalentTo supratentorial meningioma A meningioma that affects the supratentorial brain. MONDO:0016642 MONDO:0850304 omodysplasia 1 DOID:0080844 MONDO:equivalentTo omodysplasia 1 An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. MONDO:0017136|MONDO:0006025 MONDO:0850305 omodysplasia 2 DOID:0080845 MONDO:equivalentTo omodysplasia 2 An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. MONDO:0017136|MONDO:0000426 MONDO:0850306 latent autoimmune diabetes in adults DOID:0080846 MONDO:equivalentTo latent autoimmune diabetes in adults A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. MONDO:0005147 -MONDO:0850307 long covid DOID:0080848 MONDO:equivalentTo long COVID A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. MONDO:0020753 -MONDO:0850308 ocular motor apraxia, cogan type DOID:0080849 MONDO:equivalentTo ocular motor apraxia, Cogan type An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. MONDO:0005328 -MONDO:0850309 pemphigus foliaceus DOID:0080850 MONDO:equivalentTo pemphigus foliaceus A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. MONDO:0006594 -MONDO:0850310 iga pemphigus DOID:0080851 MONDO:equivalentTo IgA pemphigus A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. MONDO:0006594 -MONDO:0850311 paraneoplastic pemphigus DOID:0080852 MONDO:equivalentTo paraneoplastic pemphigus A pemphigus that is characterised by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. MONDO:0006594 MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma DOID:0080854 MONDO:equivalentTo anaplastic pleomorphic xanthoastrocytoma A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. MONDO:0021636 MONDO:0850313 parkinsonism DOID:0080855 MONDO:equivalentTo Parkinsonism A movement disorder that is characterized by disturbances of balance, gait and posture. MONDO:0005395 MONDO:0850314 primary ovarian insufficiency 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). MONDO:0005387|MONDO:0000425 @@ -235,61 +115,26 @@ MONDO:0850332 idh-mutant anaplastic astrocytoma DOID:0080875 MONDO:equivalentTo MONDO:0850333 idh-wildtype anaplastic astrocytoma DOID:0080876 MONDO:equivalentTo IDH-wildtype anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. MONDO:0016684 MONDO:0850335 idh-wildtype glioblastoma DOID:0080878 MONDO:equivalentTo IDH-wildtype glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. MONDO:0018177 MONDO:0850336 histone mutated tumor DOID:0080879 MONDO:equivalentTo histone mutated tumor A high grade glioma that has_material_basis_in mutations in the genes encoding histones. MONDO:0100342 -MONDO:0850337 vitamin d-dependent rickets DOID:0080883 MONDO:equivalentTo vitamin D-dependent rickets A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. MONDO:0005570|MONDO:0005497 -MONDO:0850338 spinal ependymoma, mycn-amplified DOID:0080888 MONDO:equivalentTo spinal ependymoma, MYCN-amplified A spinal cord ependymoma that is characterized by MYCN amplification. MONDO:0003473 MONDO:0850339 posterior fossa ependymoma DOID:0080889 MONDO:equivalentTo posterior fossa ependymoma A high grade ependymoma that is located within the posterior fossa. MONDO:0016700 MONDO:0850340 supratentorial ependymoma DOID:0080890 MONDO:equivalentTo supratentorial ependymoma A high grade ependymoma that is located within the supratentorial brain. MONDO:0016700 -MONDO:0850341 bainbridge-ropers syndrome DOID:0080893 MONDO:equivalentTo Bainbridge-Ropers syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. MONDO:0002254|MONDO:0000426 -MONDO:0850342 rapidly involuting congenital hemangioma DOID:0080895 MONDO:equivalentTo rapidly involuting congenital hemangioma A hemangioma that is characterized by complete regression. MONDO:0006500 -MONDO:0850343 pericytoma with t(7;12) DOID:0080896 MONDO:equivalentTo pericytoma with t(7;12) A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. MONDO:0002604 -MONDO:0850344 cerebellofaciodental syndrome DOID:0080898 MONDO:equivalentTo cerebellofaciodental syndrome A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. MONDO:0002254|MONDO:0006025 -MONDO:0850345 lung pleomorphic carcinoma DOID:0080899 MONDO:equivalentTo lung pleomorphic carcinoma A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. MONDO:0003573|MONDO:0008903 MONDO:0850346 oral rhabdomyosarcoma DOID:0080900 MONDO:equivalentTo oral rhabdomyosarcoma A rhabdomyosarcoma located in the oral cavity. MONDO:0005515|MONDO:0005212 -MONDO:0850347 bladder sarcomatoid transitional cell carcinoma DOID:0080901 MONDO:equivalentTo bladder sarcomatoid transitional cell carcinoma A sarcomatoid transitional cell carcinoma that is located_in the bladder. MONDO:0002837|MONDO:0001187 -MONDO:0850348 bladder small cell carcinoma DOID:0080902 MONDO:equivalentTo bladder small cell carcinoma A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. MONDO:0004986 MONDO:0850349 astroblastoma, mn1-altered DOID:0080904 MONDO:equivalentTo astroblastoma, MN1-altered An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. MONDO:0016707 -MONDO:0850350 central nervous system neuroblastoma DOID:0080905 MONDO:equivalentTo central nervous system neuroblastoma A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. MONDO:0003000 MONDO:0850351 cockayne syndrome a DOID:0080907 MONDO:equivalentTo Cockayne syndrome A A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. MONDO:0016006 MONDO:0850352 cockayne syndrome b DOID:0080908 MONDO:equivalentTo Cockayne syndrome B A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. MONDO:0016006 MONDO:0850353 castration-resistant prostate carcinoma DOID:0080909 MONDO:equivalentTo castration-resistant prostate carcinoma A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. MONDO:0005159 MONDO:0850354 cerebrooculofacioskeletal syndrome DOID:0080910 MONDO:equivalentTo cerebrooculofacioskeletal syndrome A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. MONDO:0016006 -MONDO:0850355 histiocytic sarcoma DOID:0080915 MONDO:equivalentTo histiocytic sarcoma A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. MONDO:0006247 -MONDO:0850356 sporatic amyotrophic lateral sclerosis DOID:0080917 MONDO:equivalentTo sporatic amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. MONDO:0004976 -MONDO:0850357 polymicrogyria DOID:0080918 MONDO:equivalentTo polymicrogyria A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). MONDO:0005560 MONDO:0850358 cytochrome p450 oxidoreductase deficiency DOID:0080925 MONDO:equivalentTo cytochrome P450 oxidoreductase deficiency A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. MONDO:0005523|MONDO:0006025 -MONDO:0850359 7q11.23 duplication syndrome DOID:0080926 MONDO:equivalentTo 7q11.23 duplication syndrome A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. MONDO:0000762 MONDO:0850360 apolipoprotein a-iv associated amyloidosis DOID:0080927 MONDO:equivalentTo apolipoprotein A-IV associated amyloidosis An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. MONDO:0019065|MONDO:0005240 -MONDO:0850361 dialysis-related amyloidosis DOID:0080928 MONDO:equivalentTo dialysis-related amyloidosis An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. MONDO:0019065|MONDO:0005240 -MONDO:0850362 variant abeta2m amyloidosis DOID:0080929 MONDO:equivalentTo variant ABeta2M amyloidosis An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. MONDO:0019065|MONDO:0019052|MONDO:0000426 MONDO:0850363 primary localized cutaneous amyloidosis 1 DOID:0080930 MONDO:equivalentTo primary localized cutaneous amyloidosis 1 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. MONDO:0015301 MONDO:0850364 primary localized cutaneous amyloidosis 2 DOID:0080931 MONDO:equivalentTo primary localized cutaneous amyloidosis 2 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. MONDO:0015301 -MONDO:0850365 primary localized cutaneous amyloidosis 3 DOID:0080932 MONDO:equivalentTo primary localized cutaneous amyloidosis 3 A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. MONDO:0015301 MONDO:0850366 immunoglobulin light chain amyloidosis DOID:0080933 MONDO:equivalentTo immunoglobulin light chain amyloidosis An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. MONDO:0005154|MONDO:0019052|MONDO:0005240|MONDO:0005267|MONDO:0019065 MONDO:0850367 immunoglobulin heavy chain amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis MONDO:0019065|MONDO:0005240 MONDO:0850368 immunoglobulin heavy-and-light chain DOID:0080935 MONDO:equivalentTo immunoglobulin heavy-and-light chain An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. MONDO:0019065 -MONDO:0850369 serum amyloid a amyloidosis DOID:0080936 MONDO:equivalentTo serum amyloid A amyloidosis An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. MONDO:0002332|MONDO:0005154|MONDO:0005240|MONDO:0019065 -MONDO:0850370 wild-type amyloidosis DOID:0080937 MONDO:equivalentTo wild-type amyloidosis An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. MONDO:0005267|MONDO:0019065 -MONDO:0850371 nonobstructive coronary artery disease DOID:0080938 MONDO:equivalentTo nonobstructive coronary artery disease A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. MONDO:0005010 MONDO:0850372 hereditary angioedema type i DOID:0080939 MONDO:equivalentTo hereditary angioedema type I A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. MONDO:0019623|MONDO:0006025 MONDO:0850373 hereditary angioedema type iii DOID:0080940 MONDO:equivalentTo hereditary angioedema type III A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. MONDO:0019623 -MONDO:0850374 acquired angioedema DOID:0080941 MONDO:equivalentTo acquired angioedema An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. MONDO:0010481 -MONDO:0850375 anauxetic dysplasia DOID:0080942 MONDO:equivalentTo anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. MONDO:0100510 -MONDO:0850376 46,xx sex reversal 5 DOID:0080943 MONDO:equivalentTo 46,XX sex reversal 5 A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. MONDO:0100249|MONDO:0000426 -MONDO:0850377 familial behcet-like autoinflammatory syndrome DOID:0080944 MONDO:equivalentTo familial Behcet-like autoinflammatory syndrome A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. MONDO:0003778|MONDO:0000426 -MONDO:0850378 abdominal obesity-metabolic syndrome 4 DOID:0080945 MONDO:equivalentTo abdominal obesity-metabolic syndrome 4 An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. MONDO:0000816 -MONDO:0850379 retinal dystrophy with leukodystrophy DOID:0080946 MONDO:equivalentTo retinal dystrophy with leukodystrophy A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. MONDO:0019053|MONDO:0006025 -MONDO:0850380 acute flaccid myelitis DOID:0080947 MONDO:equivalentTo acute flaccid myelitis A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. MONDO:0002565 -MONDO:0850381 agenesis of corpus callosum, cardiac, ocular, and genital syndrome DOID:0080948 MONDO:equivalentTo agenesis of corpus callosum, cardiac, ocular, and genital syndrome A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. MONDO:0002254 -MONDO:0850382 alcoholic ketoacidosis DOID:0080949 MONDO:equivalentTo alcoholic ketoacidosis A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. MONDO:0000440 MONDO:0850383 alopecia-mental retardation syndrome 4 DOID:0080950 MONDO:equivalentTo alopecia-mental retardation syndrome 4 An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. MONDO:0008756|MONDO:0006025 MONDO:0850384 alopecia-mental retardation syndrome 3 DOID:0080951 MONDO:equivalentTo alopecia-mental retardation syndrome 3 An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. MONDO:0008756|MONDO:0006025 -MONDO:0850385 amed syndrome DOID:0080952 MONDO:equivalentTo AMED syndrome A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. MONDO:0002254 MONDO:0850386 amelogenesis imperfecta type 1j DOID:0080953 MONDO:equivalentTo amelogenesis imperfecta type 1J An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. MONDO:0019507|MONDO:0006025 -MONDO:0850387 arthrogryposis multiplex congenita DOID:0080954 MONDO:equivalentTo arthrogryposis multiplex congenita A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. MONDO:0005071|MONDO:0006025 -MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered DOID:0080956 MONDO:equivalentTo childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. MONDO:0004378 -MONDO:0850389 primary hypoalphalipoproteinemia 1 DOID:0080957 MONDO:equivalentTo primary hypoalphalipoproteinemia 1 A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. MONDO:0001822 -MONDO:0850390 primary hypoalphalipoproteinemia 2 DOID:0080958 MONDO:equivalentTo primary hypoalphalipoproteinemia 2 A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. MONDO:0001822 -MONDO:0850391 arrhythmogenic right ventricular dysplasia 14 DOID:0080959 MONDO:equivalentTo arrhythmogenic right ventricular dysplasia 14 An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. MONDO:0000426|MONDO:0016587 MONDO:0850392 amelogenesis imperfecta type 2a6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. MONDO:0019507|MONDO:0006025 MONDO:0850393 intracranial berry aneurysm 1 DOID:0080964 MONDO:equivalentTo intracranial berry aneurysm 1 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. MONDO:0016483|MONDO:0000426 MONDO:0850394 intracranial berry aneurysm 2 DOID:0080965 MONDO:equivalentTo intracranial berry aneurysm 2 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. MONDO:0016483 @@ -303,14 +148,11 @@ MONDO:0850401 intracranial berry aneurysm 9 DOID:0080972 MONDO:equivalentTo intr MONDO:0850402 intracranial berry aneurysm 10 DOID:0080973 MONDO:equivalentTo intracranial berry aneurysm 10 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. MONDO:0016483 MONDO:0850403 intracranial berry aneurysm 11 DOID:0080974 MONDO:equivalentTo intracranial berry aneurysm 11 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. MONDO:0016483 MONDO:0850404 intracranial berry aneurysm 12 DOID:0080975 MONDO:equivalentTo intracranial berry aneurysm 12 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. MONDO:0016483 -MONDO:0850405 acute myeloid leukemia with bcr-abl1 DOID:0080976 MONDO:equivalentTo acute myeloid leukemia with BCR-ABL1 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. MONDO:0018874 -MONDO:0850406 aortic valve disease 3 DOID:0080977 MONDO:equivalentTo aortic valve disease 3 A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. MONDO:0007194|MONDO:0000426 MONDO:0850407 x-linked mental retardation-hypotonic facies syndrome-1 DOID:0080982 MONDO:equivalentTo X-linked mental retardation-hypotonic facies syndrome-1 A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. MONDO:0020119 MONDO:0850408 x-linked intellectual developmental disorder 109 DOID:0080984 MONDO:equivalentTo X-linked intellectual developmental disorder 109 A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. MONDO:0020119|MONDO:0020605 MONDO:0850409 syndromic x-linked intellectual disorder lujan-fryns-type DOID:0080985 MONDO:equivalentTo syndromic X-linked intellectual disorder Lujan-Fryns-type A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. MONDO:0020605|MONDO:0020119 MONDO:0850410 ehlers-danlos syndrome periodontal type 1 DOID:0080986 MONDO:equivalentTo Ehlers-Danlos syndrome periodontal type 1 An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. MONDO:0020066|MONDO:0000426 MONDO:0850411 ehlers-danlos syndrome periodontal type 2 DOID:0080987 MONDO:equivalentTo Ehlers-Danlos syndrome periodontal type 2 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. MONDO:0020066|MONDO:0000426 -MONDO:0850412 pretibial dystrophic epidermolysis bullosa DOID:0080988 MONDO:equivalentTo pretibial dystrophic epidermolysis bullosa An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. MONDO:0006543 MONDO:0850413 king denborough syndrome DOID:0080990 MONDO:equivalentTo King Denborough syndrome A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. MONDO:0005336|MONDO:0000426 MONDO:0850414 multiminicore disease DOID:0080991 MONDO:equivalentTo multiminicore disease A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. MONDO:0005336 MONDO:0850415 rhabdomyolysis-myalgia syndrome DOID:0080992 MONDO:equivalentTo rhabdomyolysis-myalgia syndrome A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. MONDO:0005336 @@ -320,16 +162,7 @@ MONDO:0850418 diffuse large b-cell lymphoma activated b-cell type DOID:0080996 M MONDO:0850419 diffuse large b-cell lymphoma germinal center b-cell type DOID:0080997 MONDO:equivalentTo diffuse large B-cell lymphoma germinal center B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. MONDO:0018905 MONDO:0850420 acute necrotizing pancreatitis DOID:0080998 MONDO:equivalentTo acute necrotizing pancreatitis An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. MONDO:0006515 MONDO:0850421 acute hemorrhagic pancreatitis DOID:0080999 MONDO:equivalentTo acute hemorrhagic pancreatitis An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. MONDO:0006515 -MONDO:0850422 cowden syndrome 4 DOID:0081000 MONDO:equivalentTo Cowden syndrome 4 A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. MONDO:0016063 -MONDO:0850423 cowden syndrome 5 DOID:0081001 MONDO:equivalentTo Cowden syndrome 5 A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. MONDO:0016063 -MONDO:0850424 cowden syndrome 6 DOID:0081002 MONDO:equivalentTo Cowden syndrome 6 A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. MONDO:0016063 -MONDO:0850425 cowden syndrome 7 DOID:0081003 MONDO:equivalentTo Cowden syndrome 7 A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. MONDO:0016063 -MONDO:0850426 high-grade b-cell lymphoma double-hit/triple-hit DOID:0081004 MONDO:equivalentTo high-grade B-cell lymphoma double-hit/triple-hit A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. MONDO:0004095 MONDO:0850427 rnaset2-deficient cystic leukoencephalopathy DOID:0081007 MONDO:equivalentTo RNASET2-deficient cystic leukoencephalopathy A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. MONDO:0006025|MONDO:0019046 -MONDO:0850428 intellectual developmental disorder with cardiac arrhythmia DOID:0081008 MONDO:equivalentTo intellectual developmental disorder with cardiac arrhythmia A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. MONDO:0002254|MONDO:0006025 -MONDO:0850429 bardet-biedl syndrome 20 DOID:0081009 MONDO:equivalentTo Bardet-Biedl syndrome 20 A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. MONDO:0015229 -MONDO:0850430 bardet-biedl syndrome 21 DOID:0081010 MONDO:equivalentTo Bardet-Biedl syndrome 21 A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. MONDO:0015229 -MONDO:0850431 bardet-biedl syndrome 22 DOID:0081011 MONDO:equivalentTo Bardet-Biedl syndrome 22 A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. MONDO:0015229 MONDO:0850432 critical covid-19 DOID:0081012 MONDO:equivalentTo critical COVID-19 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. MONDO:0100096 MONDO:0850433 severe covid-19 DOID:0081013 MONDO:equivalentTo severe COVID-19 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. MONDO:0100096 MONDO:0850434 non-severe covid-19 DOID:0081014 MONDO:equivalentTo non-severe COVID-19 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. MONDO:0100096 @@ -338,55 +171,28 @@ MONDO:0850436 congenital fibrosis of the extraocular muscles 2 DOID:0081016 MOND MONDO:0850437 congenital fibrosis of the extraocular muscles 3a DOID:0081017 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 3A A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. MONDO:0007614|MONDO:0000426 MONDO:0850438 congenital fibrosis of the extraocular muscles 3c DOID:0081019 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 3C A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). MONDO:0007614|MONDO:0000426 MONDO:0850439 congenital fibrosis of the extraocular muscles 5 DOID:0081020 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 5 A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. MONDO:0007614|MONDO:0006025 -MONDO:0850440 tukel syndrome DOID:0081021 MONDO:equivalentTo Tukel syndrome A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. MONDO:0007614|MONDO:0006025 -MONDO:0850441 retinal cone dystrophy 3b DOID:0081022 MONDO:equivalentTo retinal cone dystrophy 3B A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. MONDO:0006025|MONDO:0000455 -MONDO:0850442 retinal cone dystrophy 4 DOID:0081023 MONDO:equivalentTo retinal cone dystrophy 4 A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. MONDO:0000455 -MONDO:0850443 retinal cone dystrophy 1 DOID:0081024 MONDO:equivalentTo retinal cone dystrophy 1 A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. MONDO:0000455|MONDO:0000426 -MONDO:0850444 retinal cone dystrophy 3a DOID:0081025 MONDO:equivalentTo retinal cone dystrophy 3A A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. MONDO:0000455 -MONDO:0850445 benign peritoneal solitary fibrous tumor DOID:0081026 MONDO:equivalentTo benign peritoneal solitary fibrous tumor A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. MONDO:0000650 -MONDO:0850446 glycogen-rich carcinoma DOID:0081028 MONDO:equivalentTo glycogen-rich carcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. MONDO:0004988 MONDO:0850447 central conducting lymphatic anomaly DOID:0081030 MONDO:equivalentTo central conducting lymphatic anomaly A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. MONDO:0005833|MONDO:0000426 MONDO:0850448 generalized lymphatic anomaly DOID:0081031 MONDO:equivalentTo generalized lymphatic anomaly A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. MONDO:0005833 MONDO:0850449 mixed phenotype acute leukemia with bcr-abl1 DOID:0081036 MONDO:equivalentTo mixed phenotype acute leukemia with BCR-ABL1 An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. MONDO:0020322 MONDO:0850450 mixed phenotype acute leukemia with mll rearranged DOID:0081037 MONDO:equivalentTo mixed phenotype acute leukemia with MLL rearranged An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. MONDO:0020322 MONDO:0850451 mixed phenotype acute leukemia, b/myeloid DOID:0081038 MONDO:equivalentTo mixed phenotype acute leukemia, B/myeloid An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. MONDO:0020322 MONDO:0850452 mixed phenotype acute leukemia, t/myeloid DOID:0081039 MONDO:equivalentTo mixed phenotype acute leukemia, T/myeloid An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. MONDO:0020322 -MONDO:0850453 b-cell prolymphocytic leukemia DOID:0081041 MONDO:equivalentTo B-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. MONDO:0001023 -MONDO:0850454 t-cell prolymphocytic leukemia DOID:0081042 MONDO:equivalentTo T-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. MONDO:0001023 MONDO:0850455 fetal akinesia deformation sequence syndrome x-linked DOID:0081043 MONDO:equivalentTo fetal akinesia deformation sequence syndrome X-linked A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. MONDO:0008824|MONDO:0000425 -MONDO:0850456 frontonasal dysplasia DOID:0081044 MONDO:equivalentTo frontonasal dysplasia A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. MONDO:0002254 -MONDO:0850457 congenital limbs-face contractures-hypotonia-developmental delay syndrome DOID:0081048 MONDO:equivalentTo congenital limbs-face contractures-hypotonia-developmental delay syndrome A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. MONDO:0002254|MONDO:0000426 -MONDO:0850458 hepatosplenic t-cell lymphoma DOID:0081049 MONDO:equivalentTo hepatosplenic T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. MONDO:0000430 -MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma DOID:0081050 MONDO:equivalentTo primary cutaneous gamma-delta T-cell lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma that is characterised by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. MONDO:0000607 -MONDO:0850460 microcephaly, growth deficiency, seizures, and brain malformations DOID:0081051 MONDO:equivalentTo microcephaly, growth deficiency, seizures, and brain malformations A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. MONDO:0002254 -MONDO:0850461 neurobehavioral disorder with prenatal alcohol exposure DOID:0081052 MONDO:equivalentTo neurobehavioral disorder with prenatal alcohol exposure A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. MONDO:0000408 -MONDO:0850462 central diabetes insipidus DOID:0081055 MONDO:equivalentTo central diabetes insipidus A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. MONDO:0004782 -MONDO:0850463 gestational diabetes insipidus DOID:0081057 MONDO:equivalentTo gestational diabetes insipidus A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. MONDO:0004782 -MONDO:0850464 dipsogenic diabetes insipidus DOID:0081058 MONDO:equivalentTo dipsogenic diabetes insipidus A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. MONDO:0004782 MONDO:0850465 x-linked nephrogenic diabetes insipidus DOID:0081060 MONDO:equivalentTo X-linked nephrogenic diabetes insipidus A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. MONDO:0016383|MONDO:0020605 MONDO:0850466 nephrogenic diabetes insipidus type 2 DOID:0081061 MONDO:equivalentTo nephrogenic diabetes insipidus type 2 A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. MONDO:0016383|MONDO:0006025|MONDO:0000426 -MONDO:0850467 dicer1 syndrome DOID:0081063 MONDO:equivalentTo DICER1 syndrome A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. MONDO:0002254|MONDO:0000426 MONDO:0850468 bn2 diffuse large b-cell lymphoma DOID:0081064 MONDO:equivalentTo BN2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. MONDO:0018905 MONDO:0850469 ezb diffuse large b-cell lymphoma DOID:0081065 MONDO:equivalentTo EZB diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. MONDO:0018905 MONDO:0850470 mcd diffuse large b-cell lymphoma DOID:0081066 MONDO:equivalentTo MCD diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. MONDO:0018905 MONDO:0850471 n1 diffuse large b-cell lymphoma DOID:0081067 MONDO:equivalentTo N1 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. MONDO:0018905 MONDO:0850472 st2 diffuse large b-cell lymphoma DOID:0081068 MONDO:equivalentTo ST2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. MONDO:0018905 MONDO:0850473 a53 diffuse large b-cell lymphoma DOID:0081069 MONDO:equivalentTo A53 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. MONDO:0018905 -MONDO:0850474 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome DOID:0081072 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalitie, and delayed development of speech and movement (motor) skills. MONDO:0002254 -MONDO:0850475 teebi hypertelorism syndrome DOID:0081073 MONDO:equivalentTo Teebi hypertelorism syndrome A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. MONDO:0002254 -MONDO:0850476 marsili syndrome DOID:0081075 MONDO:equivalentTo Marsili syndrome A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. MONDO:0002254|MONDO:0000426 -MONDO:0850477 blastic plasmacytoid dendritic cell neoplasm DOID:0081076 MONDO:equivalentTo blastic plasmacytoid dendritic cell neoplasm An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. MONDO:0010643 -MONDO:0850478 ectodermal dysplasia and immune deficiency DOID:0081077 MONDO:equivalentTo ectodermal dysplasia and immune deficiency An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. MONDO:0003778|MONDO:0019287 MONDO:0850479 acute myeloid leukemia with t(6;9) (p23;q34.1) DOID:0081080 MONDO:equivalentTo acute myeloid leukemia with t(6;9) (p23;q34.1) An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. MONDO:0018874 MONDO:0850480 acute promyelocytic leukemia with pml-rara DOID:0081081 MONDO:equivalentTo acute promyelocytic leukemia with PML-RARA An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. MONDO:0012883 MONDO:0850481 acute myelomonocytic leukemia DOID:0081082 MONDO:equivalentTo acute myelomonocytic leukemia An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. MONDO:0018874 MONDO:0850482 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) DOID:0081083 MONDO:equivalentTo acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. MONDO:0018874 MONDO:0850483 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081084 MONDO:equivalentTo acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) Acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. MONDO:0018874 -MONDO:0850484 acute myeloid leukemia with minimal differentiation DOID:0081085 MONDO:equivalentTo acute myeloid leukemia with minimal differentiation An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. MONDO:0018874 MONDO:0850485 acute myeloid leukemia without maturation DOID:0081086 MONDO:equivalentTo acute myeloid leukemia without maturation An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. MONDO:0018874 MONDO:0850486 acute myeloid leukemia with maturation DOID:0081087 MONDO:equivalentTo acute myeloid leukemia with maturation An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. MONDO:0018874 -MONDO:0850487 chronic myelogenous leukemia, bcr-abl1 positive DOID:0081088 MONDO:equivalentTo chronic myelogenous leukemia, BCR-ABL1 positive A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. MONDO:0011996 -MONDO:0850488 acute myeloid leukemia with mutated npm1 DOID:0081089 MONDO:equivalentTo acute myeloid leukemia with mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. MONDO:0018874 MONDO:0850489 acute myeloid leukemia with biallelic mutation of cebpa DOID:0081090 MONDO:equivalentTo acute myeloid leukemia with biallelic mutation of CEBPA An acute myeloid leukemia with double mutations of the CEBPA gene. MONDO:0018874 MONDO:0850490 acute myeloid leukemia with mutated runx1 DOID:0081091 MONDO:equivalentTo acute myeloid leukemia with mutated RUNX1 An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. MONDO:0018874 MONDO:0850491 acute myeloid leukemia with myelodysplasia-related changes DOID:0081092 MONDO:equivalentTo acute myeloid leukemia with myelodysplasia-related changes An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. MONDO:0018874 @@ -394,30 +200,19 @@ MONDO:0850492 acute myeloid leukemia with t(8;21); (q22; q22.1) DOID:0081093 MON MONDO:0850493 acute myeloid leukemia with mll rearrangement DOID:0081094 MONDO:equivalentTo acute myeloid leukemia with MLL rearrangement An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. MONDO:0018874 MONDO:0850494 acute myeloid leukemia with mutated cebpa DOID:0081095 MONDO:equivalentTo acute myeloid leukemia with mutated CEBPA An acute myeloid leukemia with non-germline mutations of the CEBPA gene. MONDO:0018874 MONDO:0850495 acute myeloid leukemia with t(1;22)(p13;q13) DOID:0081096 MONDO:equivalentTo acute myeloid leukemia with t(1;22)(p13;q13) An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. MONDO:0018874 -MONDO:0850496 rafiq syndrome DOID:0081097 MONDO:equivalentTo Rafiq syndrome An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. MONDO:0019502 MONDO:0850497 autosomal recessive intellectual developmental disorder 13 DOID:0081098 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 13 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. MONDO:0019502 MONDO:0850498 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID:0081099 MONDO:equivalentTo neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. MONDO:0019502 MONDO:0850499 spastic paraplegia with deafness DOID:0081100 MONDO:equivalentTo spastic paraplegia with deafness A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. MONDO:0019064|MONDO:0020605 -MONDO:0850500 nonautoimmune hyperthyroidism DOID:0081101 MONDO:equivalentTo nonautoimmune hyperthyroidism A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. MONDO:0004425|MONDO:0000426 -MONDO:0850501 familial gestational hyperthyroidism DOID:0081102 MONDO:equivalentTo familial gestational hyperthyroidism A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. MONDO:0004425|MONDO:0000426 MONDO:0850502 hot water epilepsy DOID:0081104 MONDO:equivalentTo hot water epilepsy A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. MONDO:0017768 MONDO:0850503 keratosis palmoplantaris striata DOID:0081105 MONDO:equivalentTo keratosis palmoplantaris striata A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. MONDO:0006590 -MONDO:0850504 osteosclerotic metaphyseal dysplasia DOID:0081111 MONDO:equivalentTo osteosclerotic metaphyseal dysplasia MONDO:0009943|MONDO:0006025 -MONDO:0850505 baraitser-winter syndrome 1 DOID:0081112 MONDO:equivalentTo Baraitser-Winter syndrome 1 MONDO:0017579|MONDO:0000426 -MONDO:0850506 baraitser-winter syndrome 2 DOID:0081113 MONDO:equivalentTo Baraitser-Winter syndrome 2 MONDO:0017579|MONDO:0000426 MONDO:0850507 benign familial infantile seizures 1 DOID:0081114 MONDO:equivalentTo benign familial infantile seizures 1 MONDO:0017615|MONDO:0000426 MONDO:0850508 benign familial infantile seizures 2 DOID:0081115 MONDO:equivalentTo benign familial infantile seizures 2 MONDO:0017615|MONDO:0000426 MONDO:0850509 benign familial infantile seizures 3 DOID:0081116 MONDO:equivalentTo benign familial infantile seizures 3 MONDO:0017615|MONDO:0000426 MONDO:0850510 benign familial infantile seizures 4 DOID:0081117 MONDO:equivalentTo benign familial infantile seizures 4 MONDO:0017615 MONDO:0850511 benign familial infantile seizures 5 DOID:0081118 MONDO:equivalentTo benign familial infantile seizures 5 MONDO:0017615|MONDO:0000426 MONDO:0850512 benign familial infantile seizures 6 DOID:0081119 MONDO:equivalentTo benign familial infantile seizures 6 MONDO:0017615|MONDO:0000426 -MONDO:0850513 graves ophthalmopathy DOID:0081120 MONDO:equivalentTo Graves ophthalmopathy MONDO:0000587 -MONDO:0850514 inclusion body myopathy and brain white matter abnormalities DOID:0081121 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities MONDO:0000507|MONDO:0000426 MONDO:0850515 catel manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome MONDO:0005381 MONDO:0850516 x-linked mental retardation gustavson type DOID:0081123 MONDO:equivalentTo X-linked mental retardation Gustavson type A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. MONDO:0020119 -MONDO:0850517 desanto-shinawi syndrome DOID:0081126 MONDO:equivalentTo DeSanto-Shinawi syndrome A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. MONDO:0002254|MONDO:0000426 -MONDO:0850518 mandibuloacral dysplasia DOID:0081127 MONDO:equivalentTo mandibuloacral dysplasia A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. MONDO:0005497 -MONDO:0850519 tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia DOID:0081132 MONDO:equivalentTo tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. MONDO:0004736 MONDO:0850520 3-methylglutaconic aciduria type 7a DOID:0081133 MONDO:equivalentTo 3-methylglutaconic aciduria type 7a A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. MONDO:0014561|MONDO:0000426 MONDO:0850521 3-methylglutaconic aciduria type 7b DOID:0081134 MONDO:equivalentTo 3-methylglutaconic aciduria type 7b A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. MONDO:0014561 MONDO:0850522 agammaglobulinemia 2 DOID:0081135 MONDO:equivalentTo agammaglobulinemia 2 An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. MONDO:0015977|MONDO:0006025 @@ -442,18 +237,6 @@ MONDO:0850540 common variable immunodeficiency 11 DOID:0081153 MONDO:equivalentT MONDO:0850541 common variable immunodeficiency 12 DOID:0081154 MONDO:equivalentTo common variable immunodeficiency 12 A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. MONDO:0015517 MONDO:0850542 common variable immunodeficiency 13 DOID:0081155 MONDO:equivalentTo common variable immunodeficiency 13 A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. MONDO:0015517|MONDO:0000426 MONDO:0850543 common variable immunodeficiency 14 DOID:0081156 MONDO:equivalentTo common variable immunodeficiency 14 A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. MONDO:0015517|MONDO:0000426 -MONDO:0850544 dilated cardiomyopathy 1ll DOID:0081157 MONDO:equivalentTo dilated cardiomyopathy 1LL A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. MONDO:0005021|MONDO:0000426 -MONDO:0850545 dilated cardiomyopathy 1mm DOID:0081158 MONDO:equivalentTo dilated cardiomyopathy 1MM A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. MONDO:0005021|MONDO:0000426 -MONDO:0850546 dilated cardiomyopathy 2c DOID:0081159 MONDO:equivalentTo dilated cardiomyopathy 2C A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. MONDO:0005021|MONDO:0006025 -MONDO:0850547 dilated cardiomyopathy 2d DOID:0081160 MONDO:equivalentTo dilated cardiomyopathy 2D A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. MONDO:0005021|MONDO:0006025 -MONDO:0850548 dilated cardiomyopathy 2e DOID:0081161 MONDO:equivalentTo dilated cardiomyopathy 2E A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. MONDO:0005021|MONDO:0006025 -MONDO:0850549 dilated cardiomyopathy 2f DOID:0081162 MONDO:equivalentTo dilated cardiomyopathy 2F A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. MONDO:0005021|MONDO:0006025 -MONDO:0850550 dilated cardiomyopathy 2g DOID:0081163 MONDO:equivalentTo dilated cardiomyopathy 2G A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. MONDO:0005021|MONDO:0006025 -MONDO:0850551 dilated cardiomyopathy 3b DOID:0081164 MONDO:equivalentTo dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. MONDO:0005021|MONDO:0000425 -MONDO:0850552 hmg-coa synthase 2 deficiency DOID:0081168 MONDO:equivalentTo HMG-CoA synthase 2 deficiency An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. MONDO:0004736|MONDO:0006025 -MONDO:0850553 leber congenital amaurosis 19 DOID:0081169 MONDO:equivalentTo Leber congenital amaurosis 19 A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. MONDO:0018998 -MONDO:0850554 short stature, hearing loss, retinitis pigmentosa, and distinctive facies DOID:0081175 MONDO:equivalentTo short stature, hearing loss, retinitis pigmentosa, and distinctive facies A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. MONDO:0002254|MONDO:0006025 -MONDO:0850555 hypotonia, ataxia, and delayed development syndrome DOID:0081176 MONDO:equivalentTo hypotonia, ataxia, and delayed development syndrome A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. MONDO:0002254|MONDO:0000426 MONDO:0850556 autosomal recessive intellectual developmental disorder 1 DOID:0081177 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 1 MONDO:0019502 MONDO:0850557 autosomal recessive intellectual developmental disorder 2 DOID:0081178 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 2 MONDO:0019502 MONDO:0850558 autosomal recessive intellectual developmental disorder 3 DOID:0081179 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 3 MONDO:0019502 @@ -500,7 +283,6 @@ MONDO:0850598 autosomal recessive intellectual developmental disorder 57 DOID:00 MONDO:0850599 autosomal recessive intellectual developmental disorder 58 DOID:0081220 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 58 MONDO:0019502 MONDO:0850600 autosomal recessive intellectual developmental disorder 59 DOID:0081221 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 59 MONDO:0019502 MONDO:0850601 autosomal recessive intellectual developmental disorder 60 DOID:0081222 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 60 MONDO:0019502 -MONDO:0850602 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 MONDO:equivalentTo glycosylphosphatidylinositol biosynthesis defect 16 MONDO:0019502 MONDO:0850603 autosomal recessive intellectual developmental disorder 63 DOID:0081224 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 63 MONDO:0019502 MONDO:0850604 autosomal recessive intellectual developmental disorder 64 DOID:0081225 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 64 MONDO:0019502 MONDO:0850605 autosomal recessive intellectual developmental disorder 65 DOID:0081226 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 65 MONDO:0019502 @@ -522,42 +304,28 @@ MONDO:0850620 distal muscular dystrophy 3 DOID:0111189 MONDO:equivalentTo distal MONDO:0850621 distal muscular dystrophy 4 DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 MONDO:0018949 MONDO:0850622 distal hereditary motor neuronopathy type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 MONDO:0015362 MONDO:0850623 distal spinal muscular atrophy type 5 DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 MONDO:0015363 -MONDO:0850624 friedreich ataxia 1 DOID:0111218 MONDO:equivalentTo Friedreich ataxia 1 MONDO:0100339 MONDO:0850625 centronuclear myopathy 1 DOID:0111223 MONDO:equivalentTo centronuclear myopathy 1 MONDO:0008048 MONDO:0850626 centronuclear myopathy 4 DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 MONDO:0008048 MONDO:0850627 palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 MONDO:0019287 MONDO:0850628 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 MONDO:0005559 MONDO:0850629 autosomal dominant hyaline body myopathy DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy MONDO:0018889|MONDO:0000426 -MONDO:0850630 speech-language disorder-1 DOID:0111275 MONDO:equivalentTo speech-language disorder-1 MONDO:0000426|MONDO:0004730 MONDO:0850631 histiocytosis-lymphadenopathy plus syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome MONDO:0006025|MONDO:0002254 -MONDO:0850632 hereditary desmoid disease DOID:0111349 MONDO:equivalentTo hereditary desmoid disease MONDO:0002254|MONDO:0000429 -MONDO:0850633 hyperalphalipoproteinemia 1 DOID:0111369 MONDO:equivalentTo hyperalphalipoproteinemia 1 MONDO:0007744|MONDO:0000426 -MONDO:0850634 x-linked hypoparathyroidism DOID:0111388 MONDO:equivalentTo X-linked hypoparathyroidism MONDO:0001220|MONDO:0000425 MONDO:0850635 familial apolipoprotein a5 deficiency DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency MONDO:0018637|MONDO:0000426 MONDO:0850636 progressive myoclonus epilepsy 4 DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 MONDO:0006025|MONDO:0020074 MONDO:0850637 progressive myoclonus epilepsy 1a DOID:0111452 MONDO:equivalentTo progressive myoclonus epilepsy 1A MONDO:0009698|MONDO:0006025 MONDO:0850638 dehydrated hereditary stomatocytosis 1 DOID:0111576 MONDO:equivalentTo dehydrated hereditary stomatocytosis 1 MONDO:0017910|MONDO:0000426 -MONDO:0850639 plasminogen deficiency type i DOID:0111592 MONDO:equivalentTo plasminogen deficiency type I MONDO:0002254|MONDO:0006025 MONDO:0850640 distal arthrogryposis type 1 DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 MONDO:0019942 -MONDO:0850641 distal arthrogryposis type 7 DOID:0111603 MONDO:equivalentTo distal arthrogryposis type 7 MONDO:0000426|MONDO:0019942 MONDO:0850642 distal arthrogryposis type 2a DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A MONDO:0008675|MONDO:0000426 MONDO:0850643 distal arthrogryposis type 3 DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 MONDO:0019942|MONDO:0000426 -MONDO:0850644 distal arthrogryposis type 5 DOID:0111608 MONDO:equivalentTo distal arthrogryposis type 5 MONDO:0000426|MONDO:0019942 MONDO:0850645 distal arthrogryposis type 6 DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 MONDO:0019942 MONDO:0850646 distal arthrogryposis type 4 DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 MONDO:0019942 -MONDO:0850647 acth-independent macronodular adrenal hyperplasia DOID:0111622 MONDO:equivalentTo ACTH-independent macronodular adrenal hyperplasia MONDO:0003009 MONDO:0850648 ectodermal dysplasia 1 DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 MONDO:0020605|MONDO:0016535 -MONDO:0850649 oblique facial clefting 1 DOID:0111706 MONDO:equivalentTo oblique facial clefting 1 MONDO:0000426|MONDO:0000358 MONDO:0850650 focal nonepidermolytic palmoplantar keratoderma DOID:0111708 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma MONDO:0010962 -MONDO:0850651 focal or diffuse nonepidermolytic palmoplantar keratoderma DOID:0111710 MONDO:equivalentTo focal or diffuse nonepidermolytic palmoplantar keratoderma MONDO:0000426|MONDO:0010962 -MONDO:0850652 schaaf-yang syndrome DOID:0111715 MONDO:equivalentTo Schaaf-Yang syndrome MONDO:0002254 MONDO:0850653 amelogenesis imperfecta type 3 DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 MONDO:0019507 MONDO:0850654 familial episodic pain syndrome 1 DOID:0111729 MONDO:equivalentTo familial episodic pain syndrome 1 MONDO:0018319|MONDO:0000426 MONDO:0850655 familial episodic pain syndrome 3 DOID:0111731 MONDO:equivalentTo familial episodic pain syndrome 3 MONDO:0018319|MONDO:0000426 MONDO:0850656 x-linked deafness 2 DOID:0111737 MONDO:equivalentTo X-linked deafness 2 MONDO:0019586 MONDO:0850657 x-linked deafness 5 DOID:0111741 MONDO:equivalentTo X-linked deafness 5 MONDO:0020605|MONDO:0005244 -MONDO:0850658 y-linked deafness DOID:0111757 MONDO:equivalentTo Y-linked deafness MONDO:0000428|MONDO:0019497 -MONDO:0850659 46,xx sex reversal 1 DOID:0111761 MONDO:equivalentTo 46,XX sex reversal 1 MONDO:0100249|MONDO:0020604 MONDO:0850660 congenital nystagmus 1 DOID:0111790 MONDO:equivalentTo congenital nystagmus 1 MONDO:0005712|MONDO:0000429 MONDO:0850661 congenital nystagmus 7 DOID:0111791 MONDO:equivalentTo congenital nystagmus 7 MONDO:0005712|MONDO:0000426 MONDO:0850662 congenital nystagmus 2 DOID:0111792 MONDO:equivalentTo congenital nystagmus 2 MONDO:0005712|MONDO:0000426 @@ -566,45 +334,21 @@ MONDO:0850664 congenital nystagmus 6 DOID:0111795 MONDO:equivalentTo congenital MONDO:0850665 congenital nystagmus 5 DOID:0111796 MONDO:equivalentTo congenital nystagmus 5 MONDO:0005712|MONDO:0020604 MONDO:0850666 autosomal recessive congenital nystagmus DOID:0111797 MONDO:equivalentTo autosomal recessive congenital nystagmus MONDO:0005712|MONDO:0006025 MONDO:0850667 x-linked nephrolithiasis type i DOID:0111798 MONDO:equivalentTo X-linked nephrolithiasis type I MONDO:0006510|MONDO:0020605 -MONDO:0850668 syndromic microphthalmia 1 DOID:0111799 MONDO:equivalentTo syndromic microphthalmia 1 MONDO:0000425|MONDO:0016073 MONDO:0850669 syndromic microphthalmia 12 DOID:0111800 MONDO:equivalentTo syndromic microphthalmia 12 MONDO:0016073|MONDO:0000429 -MONDO:0850670 syndromic microphthalmia 3 DOID:0111801 MONDO:equivalentTo syndromic microphthalmia 3 MONDO:0000426|MONDO:0016073 -MONDO:0850671 syndromic microphthalmia 14 DOID:0111802 MONDO:equivalentTo syndromic microphthalmia 14 MONDO:0000429|MONDO:0016073 -MONDO:0850672 syndromic microphthalmia 8 DOID:0111803 MONDO:equivalentTo syndromic microphthalmia 8 MONDO:0000429|MONDO:0016073 MONDO:0850673 syndromic microphthalmia 11 DOID:0111804 MONDO:equivalentTo syndromic microphthalmia 11 MONDO:0016073 MONDO:0850674 syndromic microphthalmia 6 DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 MONDO:0016073|MONDO:0000426 MONDO:0850675 syndromic microphthalmia 5 DOID:0111806 MONDO:equivalentTo syndromic microphthalmia 5 MONDO:0016073|MONDO:0000426 MONDO:0850676 syndromic microphthalmia 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 MONDO:0016073|MONDO:0020604 MONDO:0850677 syndromic microphthalmia 13 DOID:0111811 MONDO:equivalentTo syndromic microphthalmia 13 MONDO:0016073|MONDO:0000425 MONDO:0850678 syndromic microphthalmia 10 DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 MONDO:0016073 -MONDO:0850679 syndactyly type 8 DOID:0111813 MONDO:equivalentTo syndactyly type 8 MONDO:0021002|MONDO:0020605 -MONDO:0850680 methylmalonic acidemia and homocysteinemia cblx type DOID:0111814 MONDO:equivalentTo methylmalonic acidemia and homocysteinemia cblX type MONDO:0002012|MONDO:0020605 MONDO:0850681 low molecular weight proteinuria with hypercalciuric nephrocalcinosis DOID:0111815 MONDO:equivalentTo low molecular weight proteinuria with hypercalciuric nephrocalcinosis MONDO:0015612 -MONDO:0850682 syndactyly type 1 DOID:0111816 MONDO:equivalentTo syndactyly type 1 MONDO:0021002 -MONDO:0850683 syndactyly type 3 DOID:0111817 MONDO:equivalentTo syndactyly type 3 MONDO:0021002|MONDO:0000426 -MONDO:0850684 syndactyly type 4 DOID:0111818 MONDO:equivalentTo syndactyly type 4 MONDO:0000426|MONDO:0021002 -MONDO:0850685 syndactyly type 5 DOID:0111819 MONDO:equivalentTo syndactyly type 5 MONDO:0000426|MONDO:0021002 MONDO:0850686 zygodactyly 1 DOID:0111820 MONDO:equivalentTo zygodactyly 1 MONDO:0021002 -MONDO:0850687 ichthyosis follicularis-alopecia-photophobia syndrome 1 DOID:0111821 MONDO:equivalentTo ichthyosis follicularis-alopecia-photophobia syndrome 1 MONDO:0002254|MONDO:0020605 -MONDO:0850688 child syndrome DOID:0111822 MONDO:equivalentTo CHILD syndrome MONDO:0020604|MONDO:0002254 -MONDO:0850690 aarskog syndrome DOID:0111824 MONDO:equivalentTo Aarskog syndrome MONDO:0002254 -MONDO:0850691 abruzzo-erickson syndrome DOID:0111826 MONDO:equivalentTo Abruzzo-Erickson syndrome MONDO:0002254|MONDO:0000425 -MONDO:0850692 x-linked spinal muscular atrophy 2 DOID:0111827 MONDO:equivalentTo X-linked spinal muscular atrophy 2 MONDO:0001516|MONDO:0020605 -MONDO:0850693 x-linked cerebellar ataxia DOID:0111828 MONDO:equivalentTo X-linked cerebellar ataxia MONDO:0016612 -MONDO:0850694 x-linked spinocerebellar ataxia 5 DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 MONDO:0020605 -MONDO:0850695 x-linked reticulate pigmentary disorder DOID:0111834 MONDO:equivalentTo X-linked reticulate pigmentary disorder MONDO:0000425|MONDO:0019288 +MONDO:0850694 x-linked spinocerebellar ataxia 5 DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 MONDO:0020605|MONDO:0016612 MONDO:0850696 congenital nongoitrous hypothyroidism 9 DOID:0111835 MONDO:equivalentTo congenital nongoitrous hypothyroidism 9 MONDO:0020605|MONDO:0018612 MONDO:0850697 congenital nongoitrous hypothyroidism 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 MONDO:0006025|MONDO:0018612 -MONDO:0850698 congenital nongoitrous hypothyroidism 8 DOID:0111837 MONDO:equivalentTo congenital nongoitrous hypothyroidism 8 MONDO:0000426|MONDO:0018612 -MONDO:0850699 basilicata-akhtar syndrome DOID:0111838 MONDO:equivalentTo Basilicata-Akhtar syndrome MONDO:0020119 MONDO:0850700 congenital disorder of glycosylation icc DOID:0111839 MONDO:equivalentTo congenital disorder of glycosylation Icc MONDO:0020605|MONDO:0005500 MONDO:0850701 van esch-o'driscoll syndrome DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome MONDO:0020119|MONDO:0020605 -MONDO:0850702 shukla-vernon syndrome DOID:0111841 MONDO:equivalentTo Shukla-Vernon syndrome MONDO:0002254|MONDO:0020605 -MONDO:0850703 keipert syndrome DOID:0111842 MONDO:equivalentTo Keipert syndrome MONDO:0002254|MONDO:0020605 -MONDO:0850704 paganini-miozzo syndrome DOID:0111843 MONDO:equivalentTo Paganini-Miozzo syndrome MONDO:0020605|MONDO:0020119 MONDO:0850705 x-linked intellectual developmental disorder 108 DOID:0111844 MONDO:equivalentTo X-linked intellectual developmental disorder 108 MONDO:0020605|MONDO:0020119 -MONDO:0850706 mullegama-klein-martinez syndrome DOID:0111845 MONDO:equivalentTo Mullegama-Klein-Martinez syndrome MONDO:0020119 -MONDO:0850707 x-linked congenital hemolytic anemia DOID:0111846 MONDO:equivalentTo X-linked congenital hemolytic anemia MONDO:0003689|MONDO:0020605 MONDO:0850708 osteogenesis imperfecta type 19 DOID:0111847 MONDO:equivalentTo osteogenesis imperfecta type 19 MONDO:0019019|MONDO:0020605 MONDO:0850709 osteogenesis imperfecta type 18 DOID:0111848 MONDO:equivalentTo osteogenesis imperfecta type 18 MONDO:0019019|MONDO:0006025 MONDO:0850710 osteogenesis imperfecta type 20 DOID:0111849 MONDO:equivalentTo osteogenesis imperfecta type 20 MONDO:0019019|MONDO:0006025 @@ -617,127 +361,30 @@ MONDO:0850716 primary ciliary dyskinesia 42 DOID:0111855 MONDO:equivalentTo prim MONDO:0850717 primary ciliary dyskinesia 43 DOID:0111856 MONDO:equivalentTo primary ciliary dyskinesia 43 MONDO:0016575|MONDO:0000426 MONDO:0850718 primary ciliary dyskinesia 45 DOID:0111857 MONDO:equivalentTo primary ciliary dyskinesia 45 MONDO:0016575|MONDO:0006025 MONDO:0850719 primary ciliary dyskinesia 41 DOID:0111858 MONDO:equivalentTo primary ciliary dyskinesia 41 MONDO:0016575|MONDO:0006025 -MONDO:0850720 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis DOID:0111859 MONDO:equivalentTo midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0002254|MONDO:0020605 -MONDO:0850721 amme complex DOID:0111860 MONDO:equivalentTo AMME complex MONDO:0000761|MONDO:0002254 -MONDO:0850722 meester-loeys syndrome DOID:0111861 MONDO:equivalentTo Meester-Loeys syndrome MONDO:0002254|MONDO:0000425 -MONDO:0850723 congenital bilateral absence of vas deferens DOID:0111862 MONDO:equivalentTo congenital bilateral absence of vas deferens MONDO:0005372|MONDO:0000425 -MONDO:0850724 mend syndrome DOID:0111865 MONDO:equivalentTo MEND syndrome MONDO:0002525|MONDO:0020605 -MONDO:0850725 trichothiodystrophy DOID:0111866 MONDO:equivalentTo trichothiodystrophy MONDO:0002254 -MONDO:0850726 photosensitive trichothiodystrophy 2 DOID:0111869 MONDO:equivalentTo photosensitive trichothiodystrophy 2 MONDO:0002470|MONDO:0006025 -MONDO:0850727 photosensitive trichothiodystrophy 3 DOID:0111871 MONDO:equivalentTo photosensitive trichothiodystrophy 3 MONDO:0002470|MONDO:0006025 -MONDO:0850728 photosensitive trichothiodystrophy 1 DOID:0111873 MONDO:equivalentTo photosensitive trichothiodystrophy 1 MONDO:0002470|MONDO:0006025 -MONDO:0850729 mls syndrome DOID:0111875 MONDO:equivalentTo MLS syndrome MONDO:0002254 -MONDO:0850730 diamond-blackfan anemia 7 DOID:0111878 MONDO:equivalentTo Diamond-Blackfan anemia 7 MONDO:0015253|MONDO:0000426 -MONDO:0850731 diamond-blackfan anemia 6 DOID:0111879 MONDO:equivalentTo Diamond-Blackfan anemia 6 MONDO:0015253|MONDO:0000426 -MONDO:0850732 diamond-blackfan anemia 17 DOID:0111880 MONDO:equivalentTo Diamond-Blackfan anemia 17 MONDO:0015253|MONDO:0000426 -MONDO:0850733 diamond-blackfan anemia 8 DOID:0111881 MONDO:equivalentTo Diamond-Blackfan anemia 8 MONDO:0015253|MONDO:0000426 -MONDO:0850734 diamond-blackfan anemia 12 DOID:0111882 MONDO:equivalentTo Diamond-Blackfan anemia 12 MONDO:0015253|MONDO:0000426 -MONDO:0850735 diamond-blackfan anemia 5 DOID:0111883 MONDO:equivalentTo Diamond-Blackfan anemia 5 MONDO:0015253|MONDO:0000426 -MONDO:0850736 diamond-blackfan anemia 9 DOID:0111884 MONDO:equivalentTo Diamond-Blackfan anemia 9 MONDO:0015253|MONDO:0000426 -MONDO:0850737 diamond-blackfan anemia 2 DOID:0111885 MONDO:equivalentTo Diamond-Blackfan anemia 2 MONDO:0015253|MONDO:0000426 -MONDO:0850738 diamond-blackfan anemia 19 DOID:0111886 MONDO:equivalentTo Diamond-Blackfan anemia 19 MONDO:0015253|MONDO:0000426 -MONDO:0850739 diamond-blackfan anemia 3 DOID:0111887 MONDO:equivalentTo Diamond-blackfan anemia 3 MONDO:0015253|MONDO:0000426 -MONDO:0850740 diamond-blackfan anemia 10 DOID:0111888 MONDO:equivalentTo Diamond-Blackfan anemia 10 MONDO:0015253|MONDO:0000426 -MONDO:0850741 diamond-blackfan anemia 13 DOID:0111889 MONDO:equivalentTo Diamond-Blackfan anemia 13 MONDO:0015253|MONDO:0000426 -MONDO:0850742 diamond-blackfan anemia 4 DOID:0111890 MONDO:equivalentTo Diamond-Blackfan anemia 4 MONDO:0015253|MONDO:0000426 -MONDO:0850743 diamond-blackfan anemia 20 DOID:0111891 MONDO:equivalentTo Diamond-Blackfan anemia 20 MONDO:0015253|MONDO:0000426 -MONDO:0850744 diamond-blackfan anemia 11 DOID:0111892 MONDO:equivalentTo Diamond-Blackfan anemia 11 MONDO:0015253|MONDO:0000426 -MONDO:0850745 diamond-blackfan anemia 16 DOID:0111893 MONDO:equivalentTo Diamond-Blackfan anemia 16 MONDO:0015253|MONDO:0000426 MONDO:0850746 diamond-blackfan anemia 15 with mandibulofacial dysostosis DOID:0111894 MONDO:equivalentTo Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0015253|MONDO:0000426 -MONDO:0850747 diamond-blackfan anemia 1 DOID:0111895 MONDO:equivalentTo Diamond-Blackfan anemia 1 MONDO:0015253|MONDO:0000426 -MONDO:0850748 diamond-blackfan anemia 18 DOID:0111896 MONDO:equivalentTo Diamond-Blackfan anemia 18 MONDO:0015253|MONDO:0000426 -MONDO:0850749 diamond-blackfan anemia 14 with mandibulofacial dysostosis DOID:0111897 MONDO:equivalentTo Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO:0015253|MONDO:0020605 -MONDO:0850750 ck syndrome DOID:0111898 MONDO:equivalentTo CK syndrome MONDO:0002525|MONDO:0020605 -MONDO:0850751 x-linked thrombophilia due to factor ix defect DOID:0111899 MONDO:equivalentTo X-linked thrombophilia due to factor IX defect MONDO:0002305|MONDO:0000425 -MONDO:0850752 autosomal dominant thrombophilia due to protein s deficiency DOID:0111900 MONDO:equivalentTo autosomal dominant thrombophilia due to protein S deficiency MONDO:0002304|MONDO:0000426 -MONDO:0850753 heparin cofactor ii deficiency DOID:0111901 MONDO:equivalentTo heparin cofactor II deficiency MONDO:0002305|MONDO:0000426 -MONDO:0850754 thrombophilia due to activated protein c resistance DOID:0111902 MONDO:equivalentTo thrombophilia due to activated protein C resistance MONDO:0000426|MONDO:0002305 -MONDO:0850755 thrombophilia due to hrg deficiency DOID:0111903 MONDO:equivalentTo thrombophilia due to HRG deficiency MONDO:0000426|MONDO:0002305 MONDO:0850756 autosomal recessive thrombophilia due to protein c deficiency DOID:0111904 MONDO:equivalentTo autosomal recessive thrombophilia due to protein C deficiency MONDO:0019145|MONDO:0006025 -MONDO:0850757 autosomal recessive thrombophilia due to protein s deficiency DOID:0111905 MONDO:equivalentTo autosomal recessive thrombophilia due to protein S deficiency MONDO:0006025|MONDO:0002304 -MONDO:0850758 thrombophilia due to decreased release of plat DOID:0111906 MONDO:equivalentTo thrombophilia due to decreased release of PLAT MONDO:0002305 -MONDO:0850759 thrombophilia due to thrombin defect DOID:0111907 MONDO:equivalentTo thrombophilia due to thrombin defect MONDO:0000426|MONDO:0002305 -MONDO:0850760 thrombophilia due to thrombomodulin defect DOID:0111908 MONDO:equivalentTo thrombophilia due to thrombomodulin defect MONDO:0002305|MONDO:0000429 MONDO:0850761 autosomal dominant thrombophilia due to protein c deficiency DOID:0111909 MONDO:equivalentTo autosomal dominant thrombophilia due to protein C deficiency MONDO:0019145 -MONDO:0850762 spermatogenic failure 34 DOID:0111911 MONDO:equivalentTo spermatogenic failure 34 MONDO:0004983|MONDO:0006025 -MONDO:0850763 spermatogenic failure 41 DOID:0111912 MONDO:equivalentTo spermatogenic failure 41 MONDO:0004983|MONDO:0006025 -MONDO:0850764 spermatogenic failure 30 DOID:0111913 MONDO:equivalentTo spermatogenic failure 30 MONDO:0004983|MONDO:0006025 -MONDO:0850765 spermatogenic failure 35 DOID:0111914 MONDO:equivalentTo spermatogenic failure 35 MONDO:0004983|MONDO:0006025 -MONDO:0850766 spermatogenic failure 33 DOID:0111915 MONDO:equivalentTo spermatogenic failure 33 MONDO:0004983|MONDO:0006025 -MONDO:0850767 spermatogenic failure 28 DOID:0111916 MONDO:equivalentTo spermatogenic failure 28 MONDO:0004983|MONDO:0006025 -MONDO:0850768 spermatogenic failure 43 DOID:0111917 MONDO:equivalentTo spermatogenic failure 43 MONDO:0004983|MONDO:0006025 -MONDO:0850769 spermatogenic failure 40 DOID:0111918 MONDO:equivalentTo spermatogenic failure 40 MONDO:0004983|MONDO:0006025 -MONDO:0850770 spermatogenic failure 38 DOID:0111919 MONDO:equivalentTo spermatogenic failure 38 MONDO:0004983|MONDO:0006025 -MONDO:0850771 spermatogenic failure 25 DOID:0111920 MONDO:equivalentTo spermatogenic failure 25 MONDO:0004983|MONDO:0006025 -MONDO:0850772 spermatogenic failure 36 DOID:0111921 MONDO:equivalentTo spermatogenic failure 36 MONDO:0004983|MONDO:0000426 -MONDO:0850773 spermatogenic failure 42 DOID:0111923 MONDO:equivalentTo spermatogenic failure 42 MONDO:0004983|MONDO:0006025 -MONDO:0850774 spermatogenic failure 32 DOID:0111925 MONDO:equivalentTo spermatogenic failure 32 MONDO:0004983|MONDO:0000426 -MONDO:0850775 spermatogenic failure 39 DOID:0111926 MONDO:equivalentTo spermatogenic failure 39 MONDO:0004983|MONDO:0006025 -MONDO:0850776 spermatogenic failure 37 DOID:0111927 MONDO:equivalentTo spermatogenic failure 37 MONDO:0004983|MONDO:0006025 -MONDO:0850777 spermatogenic failure 27 DOID:0111928 MONDO:equivalentTo spermatogenic failure 27 MONDO:0004983|MONDO:0006025 -MONDO:0850778 spermatogenic failure 24 DOID:0111929 MONDO:equivalentTo spermatogenic failure 24 MONDO:0004983|MONDO:0006025 -MONDO:0850779 spermatogenic failure 29 DOID:0111930 MONDO:equivalentTo spermatogenic failure 29 MONDO:0004983|MONDO:0006025 -MONDO:0850780 syndactyly-telecanthus-anogenital and renal malformations syndrome DOID:0111931 MONDO:equivalentTo syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0002254|MONDO:0000426 MONDO:0850781 severe congenital encephalopathy due to mecp2 mutation DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation MONDO:0005560|MONDO:0020605 MONDO:0850782 phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency MONDO:0020605|MONDO:0002908 -MONDO:0850783 immunodeficiency 38 DOID:0111934 MONDO:equivalentTo immunodeficiency 38 MONDO:0003778|MONDO:0006025 MONDO:0850784 immunodeficiency 16 DOID:0111935 MONDO:equivalentTo immunodeficiency 16 MONDO:0006025|MONDO:0015131 -MONDO:0850785 immunodeficiency 14 DOID:0111936 MONDO:equivalentTo immunodeficiency 14 MONDO:0015131|MONDO:0000426 MONDO:0850786 immunodeficiency 22 DOID:0111937 MONDO:equivalentTo immunodeficiency 22 MONDO:0006025|MONDO:0015974 MONDO:0850787 immunodeficiency 24 DOID:0111938 MONDO:equivalentTo immunodeficiency 24 MONDO:0015974|MONDO:0006025 -MONDO:0850788 immunodeficiency 37 DOID:0111939 MONDO:equivalentTo immunodeficiency 37 MONDO:0015131|MONDO:0006025 MONDO:0850789 immunodeficiency 42 DOID:0111940 MONDO:equivalentTo immunodeficiency 42 MONDO:0006025|MONDO:0003778 -MONDO:0850790 immunodeficiency 20 DOID:0111941 MONDO:equivalentTo immunodeficiency 20 MONDO:0003778|MONDO:0006025 -MONDO:0850791 immunodeficiency 25 DOID:0111942 MONDO:equivalentTo immunodeficiency 25 MONDO:0001222|MONDO:0006025 MONDO:0850792 immunodeficiency 48 DOID:0111943 MONDO:equivalentTo immunodeficiency 48 MONDO:0006025|MONDO:0001222 -MONDO:0850793 immunodeficiency 31b DOID:0111944 MONDO:equivalentTo immunodeficiency 31B MONDO:0006025|MONDO:0003778 -MONDO:0850794 immunodeficiency 31a DOID:0111945 MONDO:equivalentTo immunodeficiency 31A MONDO:0000426|MONDO:0003778 -MONDO:0850795 immunodeficiency 31c DOID:0111946 MONDO:equivalentTo immunodeficiency 31C MONDO:0003778|MONDO:0000426 -MONDO:0850796 immunodeficiency 21 DOID:0111947 MONDO:equivalentTo immunodeficiency 21 MONDO:0003778|MONDO:0000426 MONDO:0850797 immunodeficiency 46 DOID:0111948 MONDO:equivalentTo immunodeficiency 46 MONDO:0015131|MONDO:0006025 -MONDO:0850798 immunodeficiency 36 DOID:0111949 MONDO:equivalentTo immunodeficiency 36 MONDO:0015131|MONDO:0000426 -MONDO:0850799 immunodeficiency 29 DOID:0111950 MONDO:equivalentTo immunodeficiency 29 MONDO:0003778|MONDO:0006025 MONDO:0850800 immunodeficiency 40 DOID:0111951 MONDO:equivalentTo immunodeficiency 40 MONDO:0006025|MONDO:0015131 -MONDO:0850801 immunodeficiency 57 DOID:0111952 MONDO:equivalentTo immunodeficiency 57 MONDO:0003778|MONDO:0006025 -MONDO:0850802 immunodeficiency 23 DOID:0111953 MONDO:equivalentTo immunodeficiency 23 MONDO:0006025|MONDO:0015131 -MONDO:0850803 immunodeficiency 60 DOID:0111954 MONDO:equivalentTo immunodeficiency 60 MONDO:0015131|MONDO:0000426 -MONDO:0850804 immunodeficiency 27a DOID:0111955 MONDO:equivalentTo immunodeficiency 27A MONDO:0006025|MONDO:0003778 -MONDO:0850805 immunodeficiency 27b DOID:0111956 MONDO:equivalentTo immunodeficiency 27B MONDO:0000426|MONDO:0003778 MONDO:0850806 immunodeficiency 11a DOID:0111957 MONDO:equivalentTo immunodeficiency 11A MONDO:0006025|MONDO:0015974 -MONDO:0850807 immunodeficiency 11b DOID:0111958 MONDO:equivalentTo immunodeficiency 11B MONDO:0000426|MONDO:0001222 MONDO:0850808 immunodeficiency 15b DOID:0111959 MONDO:equivalentTo immunodeficiency 15B MONDO:0015974|MONDO:0006025 -MONDO:0850809 immunodeficiency 15a DOID:0111960 MONDO:equivalentTo immunodeficiency 15A MONDO:0015131|MONDO:0000426 MONDO:0850810 immunodeficiency 26 DOID:0111961 MONDO:equivalentTo immunodeficiency 26 MONDO:0006025|MONDO:0015974 -MONDO:0850811 combined immunodeficiency DOID:0111962 MONDO:equivalentTo combined immunodeficiency MONDO:0003778 -MONDO:0850812 dendritic cell deficiency DOID:0111963 MONDO:equivalentTo dendritic cell deficiency MONDO:0003778 -MONDO:0850813 immunodeficiency 54 DOID:0111967 MONDO:equivalentTo immunodeficiency 54 MONDO:0006025 -MONDO:0850814 immunodeficiency 39 DOID:0111969 MONDO:equivalentTo immunodeficiency 39 MONDO:0003778|MONDO:0000426 -MONDO:0850815 immunodeficiency 10 DOID:0111970 MONDO:equivalentTo immunodeficiency 10 MONDO:0006025 -MONDO:0850816 immunodeficiency 18 DOID:0111971 MONDO:equivalentTo immunodeficiency 18 MONDO:0003778|MONDO:0006025 -MONDO:0850817 immunodeficiency 19 DOID:0111972 MONDO:equivalentTo immunodeficiency 19 MONDO:0006025|MONDO:0015974 -MONDO:0850818 immunodeficiency 17 DOID:0111973 MONDO:equivalentTo immunodeficiency 17 MONDO:0001222|MONDO:0006025 -MONDO:0850819 immunodeficiency 44 DOID:0111975 MONDO:equivalentTo immunodeficiency 44 MONDO:0003778|MONDO:0006025 +MONDO:0850813 immunodeficiency 54 DOID:0111967 MONDO:equivalentTo immunodeficiency 54 MONDO:0006025|MONDO:0850199 +MONDO:0850815 immunodeficiency 10 DOID:0111970 MONDO:equivalentTo immunodeficiency 10 MONDO:0006025|MONDO:0850200 MONDO:0850820 immunodeficiency 9 DOID:0111976 MONDO:equivalentTo immunodeficiency 9 MONDO:0006025|MONDO:0001222 -MONDO:0850821 immunodeficiency 65 DOID:0111978 MONDO:equivalentTo immunodeficiency 65 MONDO:0003778|MONDO:0006025 -MONDO:0850822 immunodeficiency 49 DOID:0111979 MONDO:equivalentTo immunodeficiency 49 MONDO:0001222|MONDO:0000426 MONDO:0850823 immunodeficiency 43 DOID:0111981 MONDO:equivalentTo immunodeficiency 43 MONDO:0006025|MONDO:0003778 MONDO:0850824 immunodeficiency 56 DOID:0111982 MONDO:equivalentTo immunodeficiency 56 MONDO:0006025|MONDO:0015131 -MONDO:0850825 immunodeficiency 52 DOID:0111983 MONDO:equivalentTo immunodeficiency 52 MONDO:0001222|MONDO:0006025 MONDO:0850826 immunodeficiency 58 DOID:0111984 MONDO:equivalentTo immunodeficiency 58 MONDO:0015131|MONDO:0006025 -MONDO:0850827 immunodeficiency 13 DOID:0111987 MONDO:equivalentTo immunodeficiency 13 MONDO:0000426|MONDO:0001222 -MONDO:0850828 immunodeficiency 35 DOID:0111989 MONDO:equivalentTo immunodeficiency 35 MONDO:0006025|MONDO:0003778 -MONDO:0850829 immunodeficiency 30 DOID:0111990 MONDO:equivalentTo immunodeficiency 30 MONDO:0006025 -MONDO:0850830 immunodeficiency 62 DOID:0111991 MONDO:equivalentTo immunodeficiency 62 MONDO:0002211|MONDO:0006025 -MONDO:0850831 immunodeficiency 53 DOID:0111992 MONDO:equivalentTo immunodeficiency 53 MONDO:0015131|MONDO:0006025 -MONDO:0850832 immunodeficiency 45 DOID:0111994 MONDO:equivalentTo immunodeficiency 45 MONDO:0003778|MONDO:0006025 -MONDO:0850833 immunodeficiency 28 DOID:0111995 MONDO:equivalentTo immunodeficiency 28 MONDO:0003778|MONDO:0006025 -MONDO:0850834 immunodeficiency 51 DOID:0111996 MONDO:equivalentTo immunodeficiency 51 MONDO:0003778|MONDO:0006025 -MONDO:0850835 immunodeficiency 66 DOID:0111998 MONDO:equivalentTo immunodeficiency 66 MONDO:0003778|MONDO:0006025 -MONDO:0850836 immunodeficiency 61 DOID:0111999 MONDO:equivalentTo immunodeficiency 61 MONDO:0002211|MONDO:0006025 +MONDO:0850829 immunodeficiency 30 DOID:0111990 MONDO:equivalentTo immunodeficiency 30 MONDO:0006025|MONDO:0850200 MONDO:0850837 immunodeficiency 34 DOID:0112000 MONDO:equivalentTo immunodeficiency 34 MONDO:0020605|MONDO:0005910 -MONDO:0850838 immunodeficiency 50 DOID:0112001 MONDO:equivalentTo immunodeficiency 50 MONDO:0020605 -MONDO:0850839 immunodeficiency 47 DOID:0112002 MONDO:equivalentTo immunodeficiency 47 MONDO:0003778|MONDO:0005501|MONDO:0020605 -MONDO:0850840 immunodeficiency 70 DOID:0112005 MONDO:equivalentTo immunodeficiency 70 MONDO:0015131|MONDO:0000426 +MONDO:0850838 immunodeficiency 50 DOID:0112001 MONDO:equivalentTo immunodeficiency 50 MONDO:0020605|MONDO:0015131 MONDO:0850841 growth hormone secreting pituitary adenoma 2 DOID:0112007 MONDO:equivalentTo growth hormone secreting pituitary adenoma 2 MONDO:0006238 MONDO:0850842 pituitary adenoma 5 DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 MONDO:0006373 MONDO:0850843 pituitary adenoma 1 DOID:0112009 MONDO:equivalentTo pituitary adenoma 1 MONDO:0006373 @@ -765,7 +412,6 @@ MONDO:0850864 non-syndromic x-linked intellectual disability 81 DOID:0112033 MON MONDO:0850865 non-syndromic x-linked intellectual disability 9 DOID:0112034 MONDO:equivalentTo non-syndromic X-linked intellectual disability 9 MONDO:0020605|MONDO:0019181 MONDO:0850866 non-syndromic x-linked intellectual disability 96 DOID:0112035 MONDO:equivalentTo non-syndromic X-linked intellectual disability 96 MONDO:0020605|MONDO:0019181 MONDO:0850867 non-syndromic x-linked intellectual disability 105 DOID:0112036 MONDO:equivalentTo non-syndromic X-linked intellectual disability 105 MONDO:0020605|MONDO:0019181 -MONDO:0850868 chromosome xp11.22 duplication syndrome DOID:0112037 MONDO:equivalentTo chromosome Xp11.22 duplication syndrome MONDO:0019181 MONDO:0850869 non-syndromic x-linked intellectual disability 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 MONDO:0019181|MONDO:0020604 MONDO:0850870 non-syndromic x-linked intellectual disability 77 DOID:0112039 MONDO:equivalentTo non-syndromic X-linked intellectual disability 77 MONDO:0020605|MONDO:0019181 MONDO:0850871 non-syndromic x-linked intellectual disability 100 DOID:0112040 MONDO:equivalentTo non-syndromic X-linked intellectual disability 100 MONDO:0020605|MONDO:0019181 @@ -784,178 +430,60 @@ MONDO:0850883 non-syndromic x-linked intellectual disability 82 DOID:0112052 MON MONDO:0850884 non-syndromic x-linked intellectual disability 88 DOID:0112053 MONDO:equivalentTo non-syndromic X-linked intellectual disability 88 MONDO:0019181 MONDO:0850885 non-syndromic x-linked intellectual disability 107 DOID:0112054 MONDO:equivalentTo non-syndromic X-linked intellectual disability 107 MONDO:0020604|MONDO:0019181 MONDO:0850886 non-syndromic x-linked intellectual disability 46 DOID:0112055 MONDO:equivalentTo non-syndromic X-linked intellectual disability 46 MONDO:0020605|MONDO:0019181 -MONDO:0850887 x-linked intellectual disability-short stature-overweight syndrome DOID:0112056 MONDO:equivalentTo X-linked intellectual disability-short stature-overweight syndrome MONDO:0020119|MONDO:0020605 MONDO:0850888 non-syndromic x-linked intellectual disability 42 DOID:0112057 MONDO:equivalentTo non-syndromic X-linked intellectual disability 42 MONDO:0019181 MONDO:0850889 non-syndromic x-linked intellectual disability 41 DOID:0112058 MONDO:equivalentTo non-syndromic X-linked intellectual disability 41 MONDO:0020604|MONDO:0019181 MONDO:0850890 non-syndromic x-linked intellectual disability 72 DOID:0112059 MONDO:equivalentTo non-syndromic X-linked intellectual disability 72 MONDO:0020605|MONDO:0019181 MONDO:0850891 raynaud-claes syndrome DOID:0112060 MONDO:equivalentTo Raynaud-Claes syndrome MONDO:0020604|MONDO:0020119 -MONDO:0850892 x-linked immunodeficiency 74 DOID:0112063 MONDO:equivalentTo X-Linked immunodeficiency 74 MONDO:0001222|MONDO:0020605 -MONDO:0850893 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis DOID:0112064 MONDO:equivalentTo immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis MONDO:0000426 MONDO:0850894 nuclear type mitochondrial complex i deficiency DOID:0112065 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency MONDO:0100133 MONDO:0850895 nuclear type mitochondrial complex i deficiency 20 DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 MONDO:0006025 MONDO:0850896 mitochondrial type mitochondrial complex i deficiency DOID:0112100 MONDO:equivalentTo mitochondrial type mitochondrial complex I deficiency MONDO:0100133 MONDO:0850897 sotos syndrome 2 DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 MONDO:0019349|MONDO:0000426 -MONDO:0850898 sotos syndrome 1 DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 MONDO:0019349|MONDO:0000426 -MONDO:0850899 sotos syndrome 3 DOID:0112104 MONDO:equivalentTo Sotos syndrome 3 MONDO:0019349|MONDO:0006025 -MONDO:0850900 x-linked parkinsonism-spasticity syndrome DOID:0112105 MONDO:equivalentTo X-linked parkinsonism-spasticity syndrome MONDO:0005395|MONDO:0020605 -MONDO:0850901 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia DOID:0112106 MONDO:equivalentTo chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0020603 MONDO:0850902 mcleod syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome MONDO:0016987|MONDO:0000425 -MONDO:0850903 myofibrillar myopathy 10 DOID:0112108 MONDO:equivalentTo myofibrillar myopathy 10 MONDO:0018943|MONDO:0006025 -MONDO:0850904 spermatogenic failure 44 DOID:0112109 MONDO:equivalentTo spermatogenic failure 44 MONDO:0004983|MONDO:0006025 -MONDO:0850905 combined oxidative phosphorylation deficiency 49 DOID:0112110 MONDO:equivalentTo combined oxidative phosphorylation deficiency 49 MONDO:0000732|MONDO:0006025 -MONDO:0850906 combined oxidative phosphorylation deficiency 50 DOID:0112111 MONDO:equivalentTo combined oxidative phosphorylation deficiency 50 MONDO:0000732|MONDO:0006025 -MONDO:0850907 combined oxidative phosphorylation deficiency 48 DOID:0112112 MONDO:equivalentTo combined oxidative phosphorylation deficiency 48 MONDO:0000732|MONDO:0006025 -MONDO:0850908 combined oxidative phosphorylation deficiency 45 DOID:0112113 MONDO:equivalentTo combined oxidative phosphorylation deficiency 45 MONDO:0000732|MONDO:0006025 -MONDO:0850909 combined oxidative phosphorylation deficiency 47 DOID:0112114 MONDO:equivalentTo combined oxidative phosphorylation deficiency 47 MONDO:0000732|MONDO:0006025 -MONDO:0850910 combined oxidative phosphorylation deficiency 46 DOID:0112115 MONDO:equivalentTo combined oxidative phosphorylation deficiency 46 MONDO:0000732|MONDO:0006025 -MONDO:0850911 combined oxidative phosphorylation deficiency 43 DOID:0112116 MONDO:equivalentTo combined oxidative phosphorylation deficiency 43 MONDO:0000732|MONDO:0006025 -MONDO:0850912 combined oxidative phosphorylation deficiency 40 DOID:0112117 MONDO:equivalentTo combined oxidative phosphorylation deficiency 40 MONDO:0000732|MONDO:0006025 -MONDO:0850913 combined oxidative phosphorylation deficiency 42 DOID:0112118 MONDO:equivalentTo combined oxidative phosphorylation deficiency 42 MONDO:0000732|MONDO:0006025 -MONDO:0850914 combined oxidative phosphorylation deficiency 41 DOID:0112119 MONDO:equivalentTo combined oxidative phosphorylation deficiency 41 MONDO:0000732|MONDO:0006025 -MONDO:0850915 shox-related short stature DOID:0112120 MONDO:equivalentTo SHOX-related short stature MONDO:0005497 -MONDO:0850916 nephrogenic syndrome of inappropriate antidiuresis DOID:0112121 MONDO:equivalentTo nephrogenic syndrome of inappropriate antidiuresis MONDO:0006510|MONDO:0020605 -MONDO:0850917 x-linked epilepsy with variable learning disabilities and behavior disorders DOID:0112122 MONDO:equivalentTo X-linked epilepsy with variable learning disabilities and behavior disorders MONDO:0005027|MONDO:0000425 -MONDO:0850918 deafness, dystonia, and cerebral hypomyelination DOID:0112123 MONDO:equivalentTo deafness, dystonia, and cerebral hypomyelination MONDO:0002254|MONDO:0020604 -MONDO:0850919 x-linked retinitis pigmentosa and sinorespiratory infections DOID:0112124 MONDO:equivalentTo X-linked retinitis pigmentosa and sinorespiratory infections MONDO:0002254|MONDO:0000425 -MONDO:0850920 alpha-thalassemia myelodysplasia syndrome DOID:0112125 MONDO:equivalentTo alpha-thalassemia myelodysplasia syndrome MONDO:0002254 MONDO:0850921 stocco dos santos type x-linked intellectual disability DOID:0112126 MONDO:equivalentTo Stocco Dos Santos type X-linked intellectual disability MONDO:0020119 MONDO:0850922 hrpt-related hyperuricemia DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia MONDO:0020605|MONDO:0019052 -MONDO:0850923 x-linked severe congenital neutropenia DOID:0112128 MONDO:equivalentTo X-linked severe congenital neutropenia MONDO:0020605|MONDO:0018542 MONDO:0850924 severe congenital neutropenia 7 DOID:0112129 MONDO:equivalentTo severe congenital neutropenia 7 MONDO:0006025|MONDO:0018542 -MONDO:0850925 autosomal dominant severe congenital neutropenia DOID:0112130 MONDO:equivalentTo autosomal dominant severe congenital neutropenia MONDO:0000426|MONDO:0018542 MONDO:0850926 severe congenital neutropenia 5 DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 MONDO:0018542|MONDO:0006025 MONDO:0850927 severe congenital neutropenia 3 DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 MONDO:0018542|MONDO:0006025 MONDO:0850928 severe congenital neutropenia 6 DOID:0112134 MONDO:equivalentTo severe congenital neutropenia 6 MONDO:0006025|MONDO:0018542 MONDO:0850929 severe congenital neutropenia 4 DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 MONDO:0006025|MONDO:0018542 -MONDO:0850930 combined oxidative phosphorylation deficiency 51 DOID:0112137 MONDO:equivalentTo combined oxidative phosphorylation deficiency 51 MONDO:0000732|MONDO:0006025 MONDO:0850931 primary coenzyme q10 deficiency 9 DOID:0112138 MONDO:equivalentTo primary coenzyme Q10 deficiency 9 MONDO:0006025|MONDO:0018151 MONDO:0850932 nuclear type mitochondrial complex i deficiency 35 DOID:0112139 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 35 MONDO:0100133|MONDO:0006025 -MONDO:0850933 retinitis pigmentosa 83 DOID:0112140 MONDO:equivalentTo retinitis pigmentosa 83 MONDO:0019200|MONDO:0000426 -MONDO:0850934 retinitis pigmentosa 84 DOID:0112141 MONDO:equivalentTo retinitis pigmentosa 84 MONDO:0019200|MONDO:0006025 -MONDO:0850935 retinitis pigmentosa 85 DOID:0112142 MONDO:equivalentTo retinitis pigmentosa 85 MONDO:0019200|MONDO:0006025 -MONDO:0850936 retinitis pigmentosa 86 DOID:0112143 MONDO:equivalentTo retinitis pigmentosa 86 MONDO:0019200|MONDO:0000429 -MONDO:0850937 retinitis pigmentosa 87 DOID:0112144 MONDO:equivalentTo retinitis pigmentosa 87 MONDO:0019200|MONDO:0000426 -MONDO:0850938 retinitis pigmentosa 88 DOID:0112145 MONDO:equivalentTo retinitis pigmentosa 88 MONDO:0019200|MONDO:0006025 -MONDO:0850939 retinitis pigmentosa 89 DOID:0112146 MONDO:equivalentTo retinitis pigmentosa 89 MONDO:0019200|MONDO:0000426 -MONDO:0850940 retinitis pigmentosa 90 DOID:0112147 MONDO:equivalentTo retinitis pigmentosa 90 MONDO:0019200|MONDO:0006025 -MONDO:0850941 uruguay faciocardiomusculoskeletal syndrome DOID:0112148 MONDO:equivalentTo Uruguay faciocardiomusculoskeletal syndrome MONDO:0002254 -MONDO:0850942 terminal osseous dysplasia DOID:0112149 MONDO:equivalentTo terminal osseous dysplasia MONDO:0002254|MONDO:0000426 -MONDO:0850943 x-linked spondyloepimetaphyseal dysplasia DOID:0112150 MONDO:equivalentTo X-linked spondyloepimetaphyseal dysplasia MONDO:0100510|MONDO:0020605 -MONDO:0850944 corpus callosum agenesis-abnormal genitalia syndrome DOID:0112151 MONDO:equivalentTo corpus callosum agenesis-abnormal genitalia syndrome MONDO:0000425|MONDO:0002254 -MONDO:0850945 chime syndrome DOID:0112152 MONDO:equivalentTo CHIME syndrome MONDO:0006025|MONDO:0002254 MONDO:0850946 hypomyelinating leukodystrophy 20 DOID:0112153 MONDO:equivalentTo hypomyelinating leukodystrophy 20 MONDO:0019046|MONDO:0006025 -MONDO:0850947 inflammatory bowel disease 30 DOID:0112154 MONDO:equivalentTo inflammatory bowel disease 30 MONDO:0000426|MONDO:0005265 -MONDO:0850948 inflammatory bowel disease 29 DOID:0112155 MONDO:equivalentTo inflammatory bowel disease 29 MONDO:0000426|MONDO:0005265 -MONDO:0850949 x-linked dyserythropoietic anemia DOID:0112156 MONDO:equivalentTo X-linked dyserythropoietic anemia MONDO:0002280|MONDO:0020605 -MONDO:0850950 x-linked atrophic macular degeneration DOID:0112157 MONDO:equivalentTo X-linked atrophic macular degeneration MONDO:0003004|MONDO:0020605 -MONDO:0850951 de sanctis-cacchione syndrome DOID:0112158 MONDO:equivalentTo De Sanctis-Cacchione syndrome MONDO:0019600 MONDO:0850952 autosomal dominant nonsyndromic deafness 78 DOID:0112159 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 78 MONDO:0019587 MONDO:0850953 autosomal dominant nonsyndromic deafness 79 DOID:0112160 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 79 MONDO:0019587 -MONDO:0850954 noonan syndrome 13 DOID:0112161 MONDO:equivalentTo Noonan syndrome 13 MONDO:0018997|MONDO:0000426 MONDO:0850955 autosomal recessive nonsyndromic deafness 116 DOID:0112162 MONDO:equivalentTo autosomal recessive nonsyndromic deafness 116 MONDO:0019588 -MONDO:0850956 spermatogenic failure 45 DOID:0112163 MONDO:equivalentTo spermatogenic failure 45 MONDO:0004983|MONDO:0006025 -MONDO:0850957 spermatogenic failure 46 DOID:0112164 MONDO:equivalentTo spermatogenic failure 46 MONDO:0004983|MONDO:0006025 MONDO:0850958 autosomal dominant nonsyndromic deafness 74 DOID:0112165 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 74 MONDO:0019587 MONDO:0850959 autosomal dominant nonsyndromic deafness 75 DOID:0112166 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 75 MONDO:0019587 MONDO:0850960 autosomal dominant nonsyndromic deafness 76 DOID:0112167 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 76 MONDO:0019587 MONDO:0850961 autosomal dominant nonsyndromic deafness 77 DOID:0112168 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 77 MONDO:0019587 -MONDO:0850962 noonan syndrome 11 DOID:0112169 MONDO:equivalentTo Noonan syndrome 11 MONDO:0018997|MONDO:0000426 -MONDO:0850963 noonan syndrome 12 DOID:0112170 MONDO:equivalentTo Noonan syndrome 12 MONDO:0018997|MONDO:0000426 -MONDO:0850964 wrinkly skin syndrome DOID:0112171 MONDO:equivalentTo wrinkly skin syndrome MONDO:0002254|MONDO:0006025 -MONDO:0850965 hereditary combined deficiency of vitamin k-dependent clotting factors DOID:0112172 MONDO:equivalentTo hereditary combined deficiency of vitamin K-dependent clotting factors MONDO:0001531 -MONDO:0850966 spermatogenic failure 47 DOID:0112175 MONDO:equivalentTo spermatogenic failure 47 MONDO:0004983|MONDO:0006025 -MONDO:0850967 spermatogenic failure 48 DOID:0112176 MONDO:equivalentTo spermatogenic failure 48 MONDO:0004983|MONDO:0006025 -MONDO:0850968 mayer-rokitansky-kuster-hauser syndrome DOID:0112177 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0002254 MONDO:0850969 urocanase deficiency DOID:0112180 MONDO:equivalentTo urocanase deficiency MONDO:0006025|MONDO:0019228 -MONDO:0850970 schinzel type phocomelia DOID:0112181 MONDO:equivalentTo Schinzel type phocomelia MONDO:0002254|MONDO:0006025 -MONDO:0850971 mismatch repair cancer syndrome DOID:0112182 MONDO:equivalentTo mismatch repair cancer syndrome MONDO:0006025|MONDO:0002254 -MONDO:0850972 familial thyroid dyshormonogenesis DOID:0112183 MONDO:equivalentTo familial thyroid dyshormonogenesis MONDO:0018612 -MONDO:0850973 tetraamelia syndrome DOID:0112191 MONDO:equivalentTo tetraamelia syndrome MONDO:0002254 -MONDO:0850974 filippi syndrome DOID:0112194 MONDO:equivalentTo Filippi syndrome MONDO:0002254|MONDO:0006025 -MONDO:0850975 spondyloperipheral dysplasia DOID:0112195 MONDO:equivalentTo spondyloperipheral dysplasia MONDO:0005516|MONDO:0000426 MONDO:0850976 spondylometaepiphyseal dysplasia, short limb-hand type DOID:0112196 MONDO:equivalentTo spondylometaepiphyseal dysplasia, short limb-hand type MONDO:0006025|MONDO:0100510 MONDO:0850977 osteogenesis imperfecta type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 MONDO:0019019|MONDO:0006025 -MONDO:0850978 developmental and epileptic encephalopathy DOID:0112202 MONDO:equivalentTo developmental and epileptic encephalopathy MONDO:0000411 MONDO:0850979 chondrodysplasia with joint dislocations gpapp type DOID:0112224 MONDO:equivalentTo chondrodysplasia with joint dislocations gPAPP type MONDO:0005516|MONDO:0006025 -MONDO:0850980 bosch-boonstra-schaaf optic atrophy syndrome DOID:0112226 MONDO:equivalentTo Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0002254|MONDO:0000426 -MONDO:0850981 tubulinopathy DOID:0112227 MONDO:equivalentTo tubulinopathy MONDO:0002320|MONDO:0000429 -MONDO:0850982 lissencephaly 9 with complex brainstem malformation DOID:0112228 MONDO:equivalentTo lissencephaly 9 with complex brainstem malformation MONDO:0000426|MONDO:0018838 -MONDO:0850983 lissencephaly 10 DOID:0112229 MONDO:equivalentTo lissencephaly 10 MONDO:0000426|MONDO:0018838 MONDO:0850984 lissencephaly 5 DOID:0112230 MONDO:equivalentTo lissencephaly 5 MONDO:0006025|MONDO:0018838 -MONDO:0850985 lissencephaly 7 with cerebellar hypoplasia DOID:0112231 MONDO:equivalentTo lissencephaly 7 with cerebellar hypoplasia MONDO:0006025|MONDO:0018838 -MONDO:0850986 lissencephaly 3 DOID:0112232 MONDO:equivalentTo lissencephaly 3 MONDO:0000426|MONDO:0018838 -MONDO:0850987 lissencephaly 8 DOID:0112233 MONDO:equivalentTo lissencephaly 8 MONDO:0006025|MONDO:0018838 -MONDO:0850988 microlissencephaly DOID:0112234 MONDO:equivalentTo microlissencephaly MONDO:0018838 -MONDO:0850989 lissencephaly 1 DOID:0112237 MONDO:equivalentTo lissencephaly 1 MONDO:0000426|MONDO:0018838 MONDO:0850990 x-linked lissencephaly 2 DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 MONDO:0018838|MONDO:0000425 -MONDO:0850991 x-linked lissencephaly 1 DOID:0112239 MONDO:equivalentTo X-linked lissencephaly 1 MONDO:0000425|MONDO:0018838 -MONDO:0850992 leber congenital amaurosis with early-onset deafness DOID:0112240 MONDO:equivalentTo Leber congenital amaurosis with early-onset deafness MONDO:0000426 -MONDO:0850993 multiple benign circumferential skin creases on limbs DOID:0112241 MONDO:equivalentTo multiple benign circumferential skin creases on limbs MONDO:0005093 -MONDO:0850994 alopecia, neurologic defects, and endocrinopathy syndrome DOID:0112244 MONDO:equivalentTo alopecia, neurologic defects, and endocrinopathy syndrome MONDO:0002254|MONDO:0006025 MONDO:0850995 focal segmental glomerulosclerosis 3 DOID:0112245 MONDO:equivalentTo focal segmental glomerulosclerosis 3 MONDO:0005363|MONDO:0000429 -MONDO:0850996 glutaric acidemia type 3 DOID:0112246 MONDO:equivalentTo glutaric acidemia type 3 MONDO:0006025|MONDO:0019053 -MONDO:0850997 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder DOID:0112247 MONDO:equivalentTo congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0002254|MONDO:0000426 MONDO:0850998 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency MONDO:0006025|MONDO:0005518 -MONDO:0850999 gapo syndrome DOID:0112249 MONDO:equivalentTo GAPO syndrome MONDO:0002254|MONDO:0006025 MONDO:0851000 gaucher's disease type iiic DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC MONDO:0009267 -MONDO:0851001 ghosal hematodiaphyseal syndrome DOID:0112251 MONDO:equivalentTo Ghosal hematodiaphyseal syndrome MONDO:0002254|MONDO:0006025 -MONDO:0851002 hepatic venoocclusive disease with immunodeficiency DOID:0112254 MONDO:equivalentTo hepatic venoocclusive disease with immunodeficiency MONDO:0006025|MONDO:0002254 -MONDO:0851003 homocystinuria-megaloblastic anemia cble type DOID:0112255 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblE type MONDO:0004736|MONDO:0006025 -MONDO:0851004 homocystinuria-megaloblastic anemia cblg type DOID:0112256 MONDO:equivalentTo homocystinuria-megaloblastic anemia cblG type MONDO:0004736|MONDO:0006025 -MONDO:0851005 hydroxykynureninuria DOID:0112257 MONDO:equivalentTo hydroxykynureninuria MONDO:0006025|MONDO:0004736 MONDO:0851006 n-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency MONDO:0006025|MONDO:0004739 -MONDO:0851007 leydig cell hypoplasia DOID:0112259 MONDO:equivalentTo Leydig cell hypoplasia MONDO:0006025|MONDO:0005518 -MONDO:0851008 leucine-sensitive hypoglycemia of infancy DOID:0112262 MONDO:equivalentTo leucine-sensitive hypoglycemia of infancy MONDO:0004736|MONDO:0000426 MONDO:0851009 hypoinsulinemic hypoglycemia with hemihypertrophy DOID:0112263 MONDO:equivalentTo hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0019052|MONDO:0000426 -MONDO:0851010 woodhouse-sakati syndrome DOID:0112264 MONDO:equivalentTo Woodhouse-Sakati syndrome MONDO:0006025|MONDO:0002254 -MONDO:0851011 iminoglycinuria DOID:0112265 MONDO:equivalentTo iminoglycinuria MONDO:0006510 -MONDO:0851012 nephrotic syndrome type 23 DOID:0112266 MONDO:equivalentTo nephrotic syndrome type 23 MONDO:0002350|MONDO:0006025 -MONDO:0851013 nephrotic syndrome type 21 DOID:0112267 MONDO:equivalentTo nephrotic syndrome type 21 MONDO:0002350|MONDO:0006025 -MONDO:0851014 nephrotic syndrome type 22 DOID:0112268 MONDO:equivalentTo nephrotic syndrome type 22 MONDO:0002350|MONDO:0006025 MONDO:0851015 primary ovarian insufficiency 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 MONDO:0005387|MONDO:0006025 -MONDO:0851016 spermatogenic failure 52 DOID:0112270 MONDO:equivalentTo spermatogenic failure 52 MONDO:0004983|MONDO:0006025 -MONDO:0851017 spermatogenic failure 49 DOID:0112271 MONDO:equivalentTo spermatogenic failure 49 MONDO:0004983|MONDO:0006025 MONDO:0851018 spermatogenic failure 50 DOID:0112272 MONDO:equivalentTo spermatogenic failure 50 MONDO:0004983|MONDO:0006025 -MONDO:0851019 spermatogenic failure 51 DOID:0112273 MONDO:equivalentTo spermatogenic failure 51 MONDO:0004983|MONDO:0006025 -MONDO:0851020 x-linked spermatogenic failure 3 DOID:0112274 MONDO:equivalentTo X-linked spermatogenic failure 3 MONDO:0004983|MONDO:0020605 -MONDO:0851021 neurodevelopmental disorder with involuntary movements DOID:0112276 MONDO:equivalentTo neurodevelopmental disorder with involuntary movements MONDO:0005395|MONDO:0000426 -MONDO:0851022 immunodeficiency 79 DOID:0112277 MONDO:equivalentTo immunodeficiency 79 MONDO:0001222|MONDO:0006025 MONDO:0851023 primary ovarian insufficiency 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 MONDO:0005387|MONDO:0006025 -MONDO:0851024 spermatogenic failure 53 DOID:0112279 MONDO:equivalentTo spermatogenic failure 53 MONDO:0004983|MONDO:0006025 MONDO:0851025 spondyloepiphyseal dysplasia stanescu type DOID:0112281 MONDO:equivalentTo spondyloepiphyseal dysplasia Stanescu type MONDO:0016761|MONDO:0000426 MONDO:0851026 spondyloepiphyseal dysplasia kimberley type DOID:0112282 MONDO:equivalentTo spondyloepiphyseal dysplasia Kimberley type MONDO:0016761|MONDO:0000426 MONDO:0851027 spondyloepiphyseal dysplasia kondo-fu type DOID:0112283 MONDO:equivalentTo spondyloepiphyseal dysplasia Kondo-Fu type MONDO:0016761|MONDO:0006025 -MONDO:0851028 spondyloepiphyseal dysplasia tarda DOID:0112284 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda MONDO:0016761 -MONDO:0851029 spondyloepiphyseal dysplasia with punctate corneal dystrophy DOID:0112286 MONDO:equivalentTo spondyloepiphyseal dysplasia with punctate corneal dystrophy MONDO:0016761 MONDO:0851030 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0016761 MONDO:0851031 spondyloepiphyseal dysplasia nishimura type DOID:0112288 MONDO:equivalentTo spondyloepiphyseal dysplasia Nishimura type MONDO:0016761|MONDO:0000426 -MONDO:0851032 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis DOID:0112290 MONDO:equivalentTo spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MONDO:0002254|MONDO:0006025 -MONDO:0851033 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability DOID:0112294 MONDO:equivalentTo spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0002254 -MONDO:0851034 spondylometaphyseal dysplasia DOID:0112295 MONDO:equivalentTo spondylometaphyseal dysplasia MONDO:0005516 -MONDO:0851035 spondylometaphyseal dysplasia sedaghatian type DOID:0112298 MONDO:equivalentTo spondylometaphyseal dysplasia Sedaghatian type MONDO:0006025 -MONDO:0851036 axial spondylometaphyseal dysplasia DOID:0112299 MONDO:equivalentTo axial spondylometaphyseal dysplasia MONDO:0006025 -MONDO:0851037 mahvash disease DOID:0112306 MONDO:equivalentTo Mahvash Disease MONDO:0001933|MONDO:0006025 -MONDO:0851038 sarcosinemia DOID:0112307 MONDO:equivalentTo sarcosinemia MONDO:0006025|MONDO:0004736 -MONDO:0851039 central precocious puberty DOID:0112308 MONDO:equivalentTo central precocious puberty MONDO:0005151 -MONDO:0851040 male infertility due to acephalic spermatozoa DOID:0112311 MONDO:equivalentTo male infertility due to acephalic spermatozoa MONDO:0004983 -MONDO:0851041 male infertility due to globozoospermia DOID:0112312 MONDO:equivalentTo male infertility due to globozoospermia MONDO:0004983 +MONDO:0851035 spondylometaphyseal dysplasia sedaghatian type DOID:0112298 MONDO:equivalentTo spondylometaphyseal dysplasia Sedaghatian type MONDO:0006025|MONDO:0016763 MONDO:0851042 brain small vessel disease DOID:0112313 MONDO:equivalentTo brain small vessel disease MONDO:0005560 -MONDO:0851043 methemoglobinemia and ambiguous genitalia DOID:0112316 MONDO:equivalentTo methemoglobinemia and ambiguous genitalia MONDO:0002145|MONDO:0006025 -MONDO:0851044 schindler disease DOID:0112317 MONDO:equivalentTo Schindler disease MONDO:0002561|MONDO:0006025 MONDO:0851045 alacrima, achalasia, and impaired intellectual development syndrome DOID:0112321 MONDO:equivalentTo alacrima, achalasia, and impaired intellectual development syndrome MONDO:0015286|MONDO:0006025 -MONDO:0851046 pontocerebellar hypoplasia type 1 DOID:0112322 MONDO:equivalentTo pontocerebellar hypoplasia type 1 MONDO:0020135 MONDO:0851047 pontocerebellar hypoplasia type 11 DOID:0112324 MONDO:equivalentTo pontocerebellar hypoplasia type 11 MONDO:0020135|MONDO:0006025 MONDO:0851048 pontocerebellar hypoplasia type 14 DOID:0112325 MONDO:equivalentTo pontocerebellar hypoplasia type 14 MONDO:0020135|MONDO:0006025 MONDO:0851049 pontocerebellar hypoplasia type 15 DOID:0112326 MONDO:equivalentTo pontocerebellar hypoplasia type 15 MONDO:0020135|MONDO:0006025 MONDO:0851050 pontocerebellar hypoplasia type 12 DOID:0112327 MONDO:equivalentTo pontocerebellar hypoplasia type 12 MONDO:0020135|MONDO:0006025 -MONDO:0851051 pontocerebellar hypoplasia type 2 DOID:0112328 MONDO:equivalentTo pontocerebellar hypoplasia type 2 MONDO:0020135 MONDO:0851052 pontocerebellar hypoplasia type 13 DOID:0112332 MONDO:equivalentTo pontocerebellar hypoplasia type 13 MONDO:0020135|MONDO:0006025 MONDO:0851053 pontocerebellar hypoplasia type 16 DOID:0112333 MONDO:equivalentTo pontocerebellar hypoplasia type 16 MONDO:0020135|MONDO:0006025 -MONDO:0851054 spermatogenic failure 54 DOID:0112335 MONDO:equivalentTo spermatogenic failure 54 MONDO:0004983|MONDO:0006025 -MONDO:0851055 spermatogenic failure 56 DOID:0112336 MONDO:equivalentTo spermatogenic failure 56 MONDO:0004983|MONDO:0006025 -MONDO:0851056 spermatogenic failure 55 DOID:0112337 MONDO:equivalentTo spermatogenic failure 55 MONDO:0004983|MONDO:0006025 -MONDO:0851057 spermatogenic failure 57 DOID:0112338 MONDO:equivalentTo spermatogenic failure 57 MONDO:0004983|MONDO:0006025 -MONDO:0851058 tatton-brown-rahman syndrome DOID:0112339 MONDO:equivalentTo Tatton-Brown-Rahman syndrome MONDO:0000426|MONDO:0000508 MONDO:0851059 craniotubular dysplasia ikegawa type DOID:0112340 MONDO:equivalentTo craniotubular dysplasia Ikegawa type MONDO:0009031|MONDO:0006025 MONDO:0851060 hereditary spastic paraplegia 80 DOID:0112341 MONDO:equivalentTo hereditary spastic paraplegia 80 MONDO:0019064|MONDO:0000426 MONDO:0851061 hereditary spastic paraplegia 86 DOID:0112342 MONDO:equivalentTo hereditary spastic paraplegia 86 MONDO:0019064|MONDO:0006025 @@ -965,60 +493,26 @@ MONDO:0851064 hereditary spastic paraplegia 85 DOID:0112345 MONDO:equivalentTo h MONDO:0851065 hereditary spastic paraplegia 83 DOID:0112346 MONDO:equivalentTo hereditary spastic paraplegia 83 MONDO:0019064|MONDO:0006025 MONDO:0851066 hereditary spastic paraplegia 84 DOID:0112347 MONDO:equivalentTo hereditary spastic paraplegia 84 MONDO:0019064|MONDO:0006025 MONDO:0851067 hereditary spastic paraplegia 78 DOID:0112348 MONDO:equivalentTo hereditary spastic paraplegia 78 MONDO:0019064|MONDO:0006025 -MONDO:0851068 hereditary spastic paraplegia 81 DOID:0112349 MONDO:equivalentTo hereditary spastic paraplegia 81 MONDO:0006025|MONDO:0019064 -MONDO:0851069 spermatogenic failure 61 DOID:0112350 MONDO:equivalentTo spermatogenic failure 61 MONDO:0004983|MONDO:0006025 -MONDO:0851070 spermatogenic failure 62 DOID:0112351 MONDO:equivalentTo spermatogenic failure 62 MONDO:0004983|MONDO:0006025 -MONDO:0851071 spermatogenic failure 58 DOID:0112352 MONDO:equivalentTo spermatogenic failure 58 MONDO:0004983|MONDO:0006025 -MONDO:0851072 spermatogenic failure 64 DOID:0112353 MONDO:equivalentTo spermatogenic failure 64 MONDO:0004983|MONDO:0006025 -MONDO:0851073 spermatogenic failure 65 DOID:0112354 MONDO:equivalentTo spermatogenic failure 65 MONDO:0004983|MONDO:0006025 -MONDO:0851074 spermatogenic failure 60 DOID:0112355 MONDO:equivalentTo spermatogenic failure 60 MONDO:0004983|MONDO:0006025 -MONDO:0851075 spermatogenic failure 63 DOID:0112356 MONDO:equivalentTo spermatogenic failure 63 MONDO:0004983|MONDO:0006025 -MONDO:0851076 spermatogenic failure 59 DOID:0112357 MONDO:equivalentTo spermatogenic failure 59 MONDO:0004983|MONDO:0006025 -MONDO:0851077 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies DOID:0112358 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:0002254|MONDO:0006025 -MONDO:0851078 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID:0112359 MONDO:equivalentTo congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0002254|MONDO:0000426 MONDO:0851079 spondylocostal dysostosis 6 DOID:0112360 MONDO:equivalentTo spondylocostal dysostosis 6 MONDO:0006025|MONDO:0000359 MONDO:0851080 spondylocostal dysostosis 3 DOID:0112361 MONDO:equivalentTo spondylocostal dysostosis 3 MONDO:0006025|MONDO:0000359 MONDO:0851081 spondylocostal dysostosis 2 DOID:0112362 MONDO:equivalentTo spondylocostal dysostosis 2 MONDO:0006025|MONDO:0000359 -MONDO:0851082 spondylocostal dysostosis 5 DOID:0112363 MONDO:equivalentTo spondylocostal dysostosis 5 MONDO:0000429|MONDO:0000359 MONDO:0851083 spondylocostal dysostosis 4 DOID:0112364 MONDO:equivalentTo spondylocostal dysostosis 4 MONDO:0006025|MONDO:0000359 MONDO:0851084 spondylocostal dysostosis 1 DOID:0112365 MONDO:equivalentTo spondylocostal dysostosis 1 MONDO:0006025|MONDO:0000359 -MONDO:0851085 coffin-siris syndrome 8 DOID:0112367 MONDO:equivalentTo Coffin-Siris syndrome 8 MONDO:0015452 -MONDO:0851086 coffin-siris syndrome 5 DOID:0112368 MONDO:equivalentTo Coffin-Siris syndrome 5 MONDO:0015452 -MONDO:0851087 coffin-siris syndrome 7 DOID:0112369 MONDO:equivalentTo Coffin-Siris syndrome 7 MONDO:0015452 -MONDO:0851088 coffin-siris syndrome 12 DOID:0112370 MONDO:equivalentTo Coffin-Siris syndrome 12 MONDO:0015452 -MONDO:0851089 coffin-siris syndrome 10 DOID:0112371 MONDO:equivalentTo Coffin-Siris syndrome 10 MONDO:0015452 -MONDO:0851090 coffin-siris syndrome 11 DOID:0112372 MONDO:equivalentTo Coffin-Siris syndrome 11 MONDO:0015452 MONDO:0851091 autosomal dominant auditory neuropathy 3 DOID:0112373 MONDO:equivalentTo autosomal dominant auditory neuropathy 3 MONDO:0019587 -MONDO:0851092 muscular dystrophy-dystroglycanopathy DOID:0112374 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy MONDO:0019950 -MONDO:0851093 muscular dystrophy-dystroglycanopathy type c12 DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 MONDO:0006025 -MONDO:0851094 muscular dystrophy-dystroglycanopathy type c8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 MONDO:0006025 -MONDO:0851095 kinsship syndrome DOID:0112383 MONDO:equivalentTo KINSSHIP syndrome MONDO:0002254|MONDO:0000426 +MONDO:0851093 muscular dystrophy-dystroglycanopathy type c12 DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 MONDO:0006025|MONDO:0018276 +MONDO:0851094 muscular dystrophy-dystroglycanopathy type c8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 MONDO:0006025|MONDO:0018276 MONDO:0851096 multisystem proteinopathy DOID:070355 MONDO:equivalentTo multisystem proteinopathy A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. MONDO:0020128 -MONDO:0851097 postinfectious encephalitis DOID:10993 MONDO:equivalentTo postinfectious encephalitis An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection. MONDO:0019956|MONDO:0000568 MONDO:0851098 human papillomavirus infectious disease DOID:11166 MONDO:equivalentTo Human papillomavirus infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. MONDO:0005108 -MONDO:0851099 multiple endocrine neoplasia DOID:3125 MONDO:equivalentTo multiple endocrine neoplasia A syndrome that is characterized by tumors in at least two endocrine glands. MONDO:0002254 -MONDO:0851100 malignant olfactory nerve neoplasm DOID:370 MONDO:equivalentTo malignant olfactory nerve neoplasm MONDO:0002433 -MONDO:0851101 anaplastic ependymoma DOID:5889 MONDO:equivalentTo anaplastic ependymoma MONDO:0016700 MONDO:0851102 pulmonary artery disease DOID:60001 MONDO:equivalentTo pulmonary artery disease MONDO:0005275|MONDO:0000473 -MONDO:0851103 bartholin's gland disease DOID:60002 MONDO:equivalentTo Bartholin's gland disease MONDO:0002263 -MONDO:0851104 benign vascular tumor DOID:60006 MONDO:equivalentTo benign vascular tumor MONDO:0000629 -MONDO:0851105 cerebrovascular benign neoplasm DOID:60007 MONDO:equivalentTo cerebrovascular benign neoplasm MONDO:0000629 -MONDO:0851106 desmoplastic small round cell tumor DOID:6785 MONDO:equivalentTo desmoplastic small round cell tumor A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. MONDO:0005089 -MONDO:0851107 anaplastic oligodendroglioma DOID:7154 MONDO:equivalentTo anaplastic oligodendroglioma An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). MONDO:0016695 MONDO:0858910 dropped head syndrome DOID:0060034 MONDO:equivalentTo dropped head syndrome A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. MONDO:0000812 MONDO:0858911 overactive bladder syndrome DOID:0070355 MONDO:equivalentTo overactive bladder syndrome A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. MONDO:0002254|MONDO:0006026 -MONDO:0858912 peroxisome biogenesis disorder 1b DOID:0081240 MONDO:equivalentTo peroxisome biogenesis disorder 1B A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. MONDO:0019234|MONDO:0006025 MONDO:0858913 peroxisome biogenesis disorder 3b DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. MONDO:0019234|MONDO:0006025 MONDO:0858914 autoimmune interstitial lung, joint, and kidney disease DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. MONDO:0007179|MONDO:0000426|MONDO:0002254 MONDO:0858915 rhizomelic chondrodysplasia punctate type 4 DOID:0081243 MONDO:equivalentTo rhizomelic chondrodysplasia punctate type 4 A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. MONDO:0015776 MONDO:0858916 pituitary blastoma DOID:0081244 MONDO:equivalentTo pituitary blastoma A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. MONDO:0002109|MONDO:0005565 MONDO:0858917 cauda equina neuroendocrine tumor DOID:0081245 MONDO:equivalentTo cauda equina neuroendocrine tumor A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. MONDO:0003164 MONDO:0858918 teratoma with somatic-type malignancy DOID:0081246 MONDO:equivalentTo teratoma with somatic-type malignancy A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. MONDO:0002601 -MONDO:0858919 dedifferentiated chondrosarcoma DOID:0081247 MONDO:equivalentTo dedifferentiated chondrosarcoma A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. MONDO:0008977 -MONDO:0858920 pineocytoma DOID:0081248 MONDO:equivalentTo pineocytoma An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. MONDO:0000627 MONDO:0858921 ewsr1-negative small round cell tumor DOID:0081249 MONDO:equivalentTo EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. MONDO:0006974 -MONDO:0858922 papillary tumor of the pineal region DOID:0081251 MONDO:equivalentTo papillary tumor of the pineal region A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. MONDO:0003249 -MONDO:0858923 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma DOID:0081259 MONDO:equivalentTo desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. MONDO:0016733 MONDO:0858924 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. MONDO:0015802 MONDO:0858925 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. MONDO:0019502 MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome DOID:0081264 MONDO:equivalentTo developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). MONDO:0002254 @@ -1074,8 +568,114 @@ MONDO:0858975 neurodevelopmental disorder with poor growth, spastic tetraplegia, MONDO:0858976 oxoglutarate dehydrogenase deficiency DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. MONDO:0006025|MONDO:0004736 MONDO:0858977 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. MONDO:0005559 MONDO:0858980 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. MONDO:0005275 -MONDO:0859543 autosomal recessive cutis laxa type ii classic type DOID:0070141 MONDO:equivalentTo autosomal recessive cutis laxa type II classic type MONDO:0016175|MONDO:0006025 -MONDO:0859544 thyroid dyshormonogenesis 2a DOID:0112186 MONDO:equivalentTo thyroid dyshormonogenesis 2A MONDO:0006025 -MONDO:0859545 thyroid dyshormonogenesis 4 DOID:0112188 MONDO:equivalentTo thyroid dyshormonogenesis 4 MONDO:0006025 -MONDO:0859546 benign pleural mesothelioma DOID:5157 MONDO:equivalentTo benign pleural mesothelioma MONDO:0002037|MONDO:0005165|MONDO:0000382 -MONDO:0859547 anaerobic pneumonia DOID:873 MONDO:equivalentTo anaerobic pneumonia MONDO:0000265 +MONDO:0859580 cd3gamma deficiency DOID:0060018 MONDO:equivalentTo CD3gamma deficiency MONDO:0015974|MONDO:0006025 +MONDO:0859581 autosomal dominant cutis laxa 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 MONDO:0019571 +MONDO:0859582 arthrogryposis multiplex congenita-6 DOID:0070336 MONDO:equivalentTo arthrogryposis multiplex congenita-6 An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. MONDO:0015168 +MONDO:0859583 spinal muscular atrophy with lower extremity predominant 2a DOID:0070349 MONDO:equivalentTo spinal muscular atrophy with lower extremity predominant 2A A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. MONDO:0018190 +MONDO:0859584 spinal muscular atrophy with lower extremity predominant 1 DOID:0070351 MONDO:equivalentTo spinal muscular atrophy with lower extremity predominant 1 A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. MONDO:0018190 +MONDO:0859585 developmental and epileptic encephalopathy 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 MONDO:0100062|MONDO:0006025 +MONDO:0859586 kenny-caffey syndrome type 1 DOID:0080722 MONDO:equivalentTo Kenny-Caffey syndrome type 1 A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E. MONDO:0016516|MONDO:0006025 +MONDO:0859587 kenny-caffey syndrome type 2 DOID:0080723 MONDO:equivalentTo Kenny-Caffey syndrome type 2 A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. MONDO:0016516|MONDO:0000426 +MONDO:0859588 keratosis pilaris atrophicans faciei DOID:0080752 MONDO:equivalentTo keratosis pilaris atrophicans faciei A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. MONDO:0018855 +MONDO:0859589 x-linked keratosis follicularis spinulosa decalvans DOID:0080754 MONDO:equivalentTo X-linked keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. MONDO:0000136|MONDO:0020605 +MONDO:0859590 autosomal dominant keratosis follicularis spinulosa decalvans DOID:0080755 MONDO:equivalentTo autosomal dominant keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. MONDO:0000136 +MONDO:0859591 childhood low-grade glioma DOID:0080830 MONDO:equivalentTo childhood low-grade glioma A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. MONDO:0021637 +MONDO:0859592 idh-mutant and 1p/19q-codeleted oligodendroglioma DOID:0080882 MONDO:equivalentTo IDH-mutant and 1p/19q-codeleted oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). MONDO:0016696 +MONDO:0859593 vitamin d-dependent rickets type 2a DOID:0080884 MONDO:equivalentTo vitamin D-dependent rickets type 2A A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. MONDO:0024299|MONDO:0006025 +MONDO:0859594 vitamin d-dependent rickets type 2b DOID:0080885 MONDO:equivalentTo vitamin D-dependent rickets type 2B A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. MONDO:0024299 +MONDO:0859595 vitamin d-dependent rickets type 1a DOID:0080886 MONDO:equivalentTo vitamin D-dependent rickets type 1A A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. MONDO:0024299|MONDO:0006025 +MONDO:0859596 vitamin d-dependent rickets type 1b DOID:0080887 MONDO:equivalentTo vitamin D-dependent rickets type 1B A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. MONDO:0024299|MONDO:0006025 +MONDO:0859597 cns neuroblastoma with foxr2 activation DOID:0080906 MONDO:equivalentTo CNS neuroblastoma with FOXR2 activation A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. MONDO:0002900 +MONDO:0859598 erythroleukemia DOID:0080916 MONDO:equivalentTo erythroleukemia An acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. MONDO:0017858 +MONDO:0859599 arthrogryposis multiplex congenita-1 DOID:0080978 MONDO:equivalentTo arthrogryposis multiplex congenita-1 An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. MONDO:0015168 +MONDO:0859600 arthrogryposis multiplex congenita-3 DOID:0080979 MONDO:equivalentTo arthrogryposis multiplex congenita-3 An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. MONDO:0015168 +MONDO:0859601 arthrogryposis multiplex congenita-4 DOID:0080980 MONDO:equivalentTo arthrogryposis multiplex congenita-4 An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. MONDO:0015168 +MONDO:0859602 arthrogryposis multiplex congenita-5 DOID:0080981 MONDO:equivalentTo arthrogryposis multiplex congenita-5 An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. MONDO:0015168 +MONDO:0859603 glutatione synthetase deficiency with 5-oxoprolinuria DOID:0081034 MONDO:equivalentTo glutatione synthetase deficiency with 5-oxoprolinuria A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. MONDO:0017909|MONDO:0006025 +MONDO:0859604 frontonasal dysplasia 1 DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. MONDO:0016643|MONDO:0006025 +MONDO:0859605 frontonasal dysplasia 2 DOID:0081046 MONDO:equivalentTo frontonasal dysplasia 2 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. MONDO:0016643|MONDO:0006025 +MONDO:0859606 frontonasal dysplasia 3 DOID:0081047 MONDO:equivalentTo frontonasal dysplasia 3 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. MONDO:0016643|MONDO:0006025 +MONDO:0859607 x-linked central diabetes insipidus DOID:0081059 MONDO:equivalentTo X-linked central diabetes insipidus A central diabetes insipidus that has_material_basis_in X-linked inheritance. MONDO:0015790|MONDO:0000425 +MONDO:0859608 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 DOID:0081124 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. MONDO:0031329|MONDO:0006025 +MONDO:0859609 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 DOID:0081125 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. MONDO:0031329 +MONDO:0859610 mandibuloacral dysplasia type a lipodystrophy DOID:0081128 MONDO:equivalentTo mandibuloacral dysplasia type A lipodystrophy A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. MONDO:0016584 +MONDO:0859611 mandibuloacral dysplasia type b lipodystrophy DOID:0081129 MONDO:equivalentTo mandibuloacral dysplasia type B lipodystrophy A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. MONDO:0016584|MONDO:0006025 +MONDO:0859612 bh4-deficient hyperphenylalaninemia c DOID:0081130 MONDO:equivalentTo BH4-deficient hyperphenylalaninemia C A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. MONDO:0850519|MONDO:0006025 +MONDO:0859613 bh4-deficient hyperphenylalaninemia d DOID:0081131 MONDO:equivalentTo BH4-deficient hyperphenylalaninemia D A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. MONDO:0850519|MONDO:0006025 +MONDO:0859614 diffuse low-grade glioma, mapk pathway–altered DOID:0081260 MONDO:equivalentTo diffuse low-grade glioma, MAPK pathway–altered A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. MONDO:0021637 +MONDO:0859615 diffuse astrocytoma, myb- or mybl1-altered DOID:0081279 MONDO:equivalentTo diffuse astrocytoma, MYB- or MYBL1-altered A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. MONDO:0016686 +MONDO:0859616 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:equivalentTo developmental and epileptic encephalopathy 94 A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. MONDO:0100062 +MONDO:0859617 spermatogenic failure 9 DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 MONDO:0006025|MONDO:0015746 +MONDO:0859618 x-linked spinocerebellar ataxia 1 DOID:0111829 MONDO:equivalentTo X-linked spinocerebellar ataxia 1 MONDO:0016612|MONDO:0020605 +MONDO:0859619 x-linked spinocerebellar ataxia 2 DOID:0111830 MONDO:equivalentTo X-linked spinocerebellar ataxia 2 MONDO:0016612 +MONDO:0859620 x-linked spinocerebellar ataxia 3 DOID:0111831 MONDO:equivalentTo X-linked spinocerebellar ataxia 3 MONDO:0016612 +MONDO:0859621 x-linked spinocerebellar ataxia 4 DOID:0111832 MONDO:equivalentTo X-linked spinocerebellar ataxia 4 MONDO:0016612 +MONDO:0859622 x-linked congenital bilateral absence of vas deferens DOID:0111863 MONDO:equivalentTo X-linked congenital bilateral absence of vas deferens MONDO:0018801 +MONDO:0859623 autosomal recessive congenital bilateral absence of vas deferens DOID:0111864 MONDO:equivalentTo autosomal recessive congenital bilateral absence of vas deferens MONDO:0018801|MONDO:0006025 +MONDO:0859624 nonphotosensitive trichothiodystrophy DOID:0111867 MONDO:equivalentTo nonphotosensitive trichothiodystrophy MONDO:0018053 +MONDO:0859625 b cell and dendritic cell deficiency DOID:0111964 MONDO:equivalentTo B cell and dendritic cell deficiency MONDO:0015131 +MONDO:0859626 t cell, b cell, and nk cell deficiency DOID:0111965 MONDO:equivalentTo T cell, B cell, and NK cell deficiency MONDO:0015131 +MONDO:0859627 monocyte, dendritic cell, and nk cell deficiency DOID:0111966 MONDO:equivalentTo monocyte, dendritic cell, and NK cell deficiency MONDO:0015131 +MONDO:0859628 immunodeficiency 41 DOID:0111968 MONDO:equivalentTo immunodeficiency 41 MONDO:0015131|MONDO:0006025 +MONDO:0859629 immunodeficiency 32a DOID:0111986 MONDO:equivalentTo immunodeficiency 32A MONDO:0850812|MONDO:0000426 +MONDO:0859630 immunodeficiency 12 DOID:0111988 MONDO:equivalentTo immunodeficiency 12 MONDO:0015131|MONDO:0006025 +MONDO:0859631 immunodeficiency 55 DOID:0111993 MONDO:equivalentTo immunodeficiency 55 MONDO:0015131|MONDO:0006025 +MONDO:0859632 immunodeficiency 63 DOID:0111997 MONDO:equivalentTo immunodeficiency 63 MONDO:0850200|MONDO:0006025 +MONDO:0859633 immunodeficiency 71 DOID:0112004 MONDO:equivalentTo immunodeficiency 71 MONDO:0015131|MONDO:0006025 +MONDO:0859634 immunodeficiency 72 DOID:0112015 MONDO:equivalentTo immunodeficiency 72 MONDO:0015131|MONDO:0006025 +MONDO:0859635 severe congenital neutropenia 2 DOID:0112131 MONDO:equivalentTo severe congenital neutropenia 2 MONDO:0008742 +MONDO:0859636 severe congenital neutropenia 8 DOID:0112135 MONDO:equivalentTo severe congenital neutropenia 8 MONDO:0008742 +MONDO:0859637 combined deficiency of vitamin k-dependent clotting factors 1 DOID:0112173 MONDO:equivalentTo combined deficiency of vitamin K-dependent clotting factors 1 MONDO:0010187|MONDO:0006025 +MONDO:0859638 combined deficiency of vitamin k-dependent clotting factors 2 DOID:0112174 MONDO:equivalentTo combined deficiency of vitamin K-dependent clotting factors 2 MONDO:0010187|MONDO:0006025 +MONDO:0859639 mayer-rokitansky-kuster-hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 MONDO:0017771 +MONDO:0859640 thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 MONDO:0010132|MONDO:0006025 +MONDO:0859641 developmental and epileptic encephalopathy 67 DOID:0112203 MONDO:equivalentTo developmental and epileptic encephalopathy 67 MONDO:0100062|MONDO:0000426 +MONDO:0859642 developmental and epileptic encephalopathy 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 MONDO:0100062|MONDO:0006025 +MONDO:0859643 developmental and epileptic encephalopathy 69 DOID:0112205 MONDO:equivalentTo developmental and epileptic encephalopathy 69 MONDO:0100062|MONDO:0000426 +MONDO:0859644 developmental and epileptic encephalopathy 70 DOID:0112206 MONDO:equivalentTo developmental and epileptic encephalopathy 70 MONDO:0100062|MONDO:0000426 +MONDO:0859645 developmental and epileptic encephalopathy 71 DOID:0112207 MONDO:equivalentTo developmental and epileptic encephalopathy 71 MONDO:0100062|MONDO:0006025 +MONDO:0859646 developmental and epileptic encephalopathy 72 DOID:0112208 MONDO:equivalentTo developmental and epileptic encephalopathy 72 MONDO:0100062|MONDO:0000426 +MONDO:0859647 developmental and epileptic encephalopathy 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 MONDO:0100062|MONDO:0000426 +MONDO:0859648 developmental and epileptic encephalopathy 74 DOID:0112210 MONDO:equivalentTo developmental and epileptic encephalopathy 74 MONDO:0100062|MONDO:0000426 +MONDO:0859649 developmental and epileptic encephalopathy 75 DOID:0112211 MONDO:equivalentTo developmental and epileptic encephalopathy 75 MONDO:0100062|MONDO:0006025 +MONDO:0859650 developmental and epileptic encephalopathy 76 DOID:0112212 MONDO:equivalentTo developmental and epileptic encephalopathy 76 MONDO:0100062|MONDO:0006025 +MONDO:0859651 developmental and epileptic encephalopathy 77 DOID:0112213 MONDO:equivalentTo developmental and epileptic encephalopathy 77 MONDO:0100062|MONDO:0006025 +MONDO:0859652 developmental and epileptic encephalopathy 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 MONDO:0100062|MONDO:0000426 +MONDO:0859653 developmental and epileptic encephalopathy 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 MONDO:0100062|MONDO:0000426 +MONDO:0859654 developmental and epileptic encephalopathy 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 MONDO:0100062|MONDO:0006025 +MONDO:0859655 developmental and epileptic encephalopathy 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 MONDO:0100062|MONDO:0006025 +MONDO:0859656 developmental and epileptic encephalopathy 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 MONDO:0100062|MONDO:0006025 +MONDO:0859657 developmental and epileptic encephalopathy 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 MONDO:0100062|MONDO:0006025 +MONDO:0859658 developmental and epileptic encephalopathy 86 DOID:0112220 MONDO:equivalentTo developmental and epileptic encephalopathy 86 MONDO:0100062|MONDO:0006025 +MONDO:0859659 developmental and epileptic encephalopathy 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 MONDO:0100062|MONDO:0000426 +MONDO:0859660 developmental and epileptic encephalopathy 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 MONDO:0100062|MONDO:0006025 +MONDO:0859661 bh4-deficient hyperphenylalaninemia b DOID:0112225 MONDO:equivalentTo BH4-deficient hyperphenylalaninemia B MONDO:0850519|MONDO:0006025 +MONDO:0859662 lissencephaly 6 DOID:0112236 MONDO:equivalentTo lissencephaly 6 MONDO:0015204|MONDO:0006025 +MONDO:0859663 congenital symmetric circumferential skin creases 1 DOID:0112242 MONDO:equivalentTo congenital symmetric circumferential skin creases 1 MONDO:0007990|MONDO:0000426 +MONDO:0859664 congenital symmetric circumferential skin creases 2 DOID:0112243 MONDO:equivalentTo congenital symmetric circumferential skin creases 2 MONDO:0007990|MONDO:0000426 +MONDO:0859665 glutathione synthetase deficiency of erythrocytes DOID:0112252 MONDO:equivalentTo glutathione synthetase deficiency of erythrocytes MONDO:0017909|MONDO:0006025 +MONDO:0859666 combined cellular and humoral immune defects with granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas MONDO:0015131|MONDO:0006025 +MONDO:0859667 developmental and epileptic encephalopathy 93 DOID:0112275 MONDO:equivalentTo developmental and epileptic encephalopathy 93 MONDO:0100062|MONDO:0000426 +MONDO:0859668 autosomal dominant spondyloepiphyseal dysplasia tarda DOID:0112285 MONDO:equivalentTo autosomal dominant spondyloepiphyseal dysplasia tarda MONDO:0019667|MONDO:0000426 +MONDO:0859669 autosomal recessive spondyloepiphyseal dysplasia tarda leroy-spranger type DOID:0112291 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type MONDO:0019667|MONDO:0006025 +MONDO:0859670 spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda with intellectual disability MONDO:0019667|MONDO:0006025 +MONDO:0859671 autosomal recessive spondyloepiphyseal dysplasia tarda DOID:0112293 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda MONDO:0019667|MONDO:0006025 +MONDO:0859672 spondylometaphyseal dysplasia algerian type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type MONDO:0016763 +MONDO:0859673 spondylometaphyseal dysplasia corner fracture type DOID:0112297 MONDO:equivalentTo spondylometaphyseal dysplasia corner fracture type MONDO:0016763|MONDO:0000426 +MONDO:0859674 spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0016763|MONDO:0006025 +MONDO:0859675 spondylometaphyseal dysplasia type a4 DOID:0112301 MONDO:equivalentTo spondylometaphyseal dysplasia type A4 MONDO:0016763 +MONDO:0859676 spondylometaphyseal dysplasia east african type DOID:0112302 MONDO:equivalentTo spondylometaphyseal dysplasia East African type MONDO:0016763 +MONDO:0859677 spondylometaphyseal dysplasia megarbane-dagher-melike type DOID:0112304 MONDO:equivalentTo spondylometaphyseal dysplasia Megarbane-Dagher-Melike type MONDO:0016763|MONDO:0006025 +MONDO:0859678 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 MONDO:equivalentTo spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MONDO:0016763 +MONDO:0859679 central precocious puberty 2 DOID:0112309 MONDO:equivalentTo central precocious puberty 2 MONDO:0019165|MONDO:0000426 +MONDO:0859680 central precocious puberty 1 DOID:0112310 MONDO:equivalentTo central precocious puberty 1 MONDO:0019165|MONDO:0000426 +MONDO:0859681 schindler disease type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 MONDO:0017779 +MONDO:0859682 kanzaki disease DOID:0112319 MONDO:equivalentTo Kanzaki disease MONDO:0017779 +MONDO:0859683 pontocerebellar hypoplasia type 1d DOID:0112323 MONDO:equivalentTo pontocerebellar hypoplasia type 1D MONDO:0016396|MONDO:0006025 +MONDO:0859684 pontocerebellar hypoplasia type 2f DOID:0112329 MONDO:equivalentTo pontocerebellar hypoplasia type 2F MONDO:0016759|MONDO:0006025 +MONDO:0859685 pontocerebellar hypoplasia type 1e DOID:0112330 MONDO:equivalentTo pontocerebellar hypoplasia type 1E MONDO:0016396|MONDO:0006025 +MONDO:0859686 pontocerebellar hypoplasia type 1f DOID:0112331 MONDO:equivalentTo pontocerebellar hypoplasia type 1F MONDO:0016396|MONDO:0006025 +MONDO:0859687 pontocerebellar hypoplasia type 1c DOID:0112334 MONDO:equivalentTo pontocerebellar hypoplasia type 1C MONDO:0016396|MONDO:0006025 +MONDO:0859688 muscular dystrophy-dystroglycanopathy type b DOID:0112375 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type B MONDO:0018276 +MONDO:0859689 hepatobiliary benign neoplasm DOID:3117 MONDO:equivalentTo hepatobiliary benign neoplasm MONDO:0000385 +MONDO:0859690 malignant cystadenoma DOID:60004 MONDO:equivalentTo malignant cystadenoma MONDO:0850125 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index a4ce291b..a7306559 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -519,7 +519,6 @@ MONDO:0853718 recurrent glioblastoma NCIT:C126306 MONDO:equivalentTo Recurrent G MONDO:0853719 refractory adult acute lymphoblastic leukemia NCIT:C126309 MONDO:equivalentTo Refractory Adult Acute Lymphoblastic Leukemia MONDO:0003541 MONDO:0853720 ovarian seromucinous adenofibroma NCIT:C126311 MONDO:equivalentTo Ovarian Seromucinous Adenofibroma MONDO:0006071 MONDO:0853721 ovarian adenomatoid tumor NCIT:C126331 MONDO:equivalentTo Ovarian Adenomatoid Tumor MONDO:0004230|MONDO:0000646 -MONDO:0853722 x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia NCIT:C126336 MONDO:equivalentTo X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia MONDO:0021094 MONDO:0853723 ifn-gamma receptor 1 deficiency NCIT:C126337 MONDO:equivalentTo IFN-gamma Receptor 1 Deficiency MONDO:0021094 MONDO:0853724 hypomorphic rag1 deficiency NCIT:C126338 MONDO:equivalentTo Hypomorphic RAG1 Deficiency MONDO:0021094 MONDO:0853725 pgm3-associated immunodeficiency NCIT:C126339 MONDO:equivalentTo PGM3-Associated Immunodeficiency MONDO:0021094 @@ -568,7 +567,7 @@ MONDO:0853767 cervical leiomyoma NCIT:C128046 MONDO:equivalentTo Cervical Leiomy MONDO:0853768 cervical malignant peripheral nerve sheath tumor NCIT:C128050 MONDO:equivalentTo Cervical Malignant Peripheral Nerve Sheath Tumor MONDO:0018078|MONDO:0017827 MONDO:0853769 malignant cervical soft tissue neoplasm NCIT:C128054 MONDO:equivalentTo Malignant Cervical Soft Tissue Neoplasm MONDO:0002974|MONDO:0024637 MONDO:0853770 cervical yolk sac tumor NCIT:C128055 MONDO:equivalentTo Cervical Yolk Sac Tumor MONDO:0002974|MONDO:0005744 -MONDO:0853771 vaginal papillary carcinoma NCIT:C128060 MONDO:equivalentTo Vaginal Papillary Carcinoma MONDO:0002979 +MONDO:0853771 vaginal papillary carcinoma NCIT:C128060 MONDO:equivalentTo Vaginal Papillary Carcinoma MONDO:0002979|MONDO:0006490 MONDO:0853772 vaginal tubulosquamous polyp NCIT:C128061 MONDO:equivalentTo Vaginal Tubulosquamous Polyp MONDO:0021394 MONDO:0853773 vaginal neuroendocrine carcinoma NCIT:C128073 MONDO:equivalentTo Vaginal Neuroendocrine Carcinoma MONDO:0015867 MONDO:0853774 vaginal large cell neuroendocrine carcinoma NCIT:C128075 MONDO:equivalentTo Vaginal Large Cell Neuroendocrine Carcinoma MONDO:0005057 @@ -586,7 +585,6 @@ MONDO:0853785 vulvar adenocarcinoma of sweat gland origin NCIT:C128164 MONDO:equ MONDO:0853786 malignant vulvar phyllodes tumor NCIT:C128165 MONDO:equivalentTo Malignant Vulvar Phyllodes Tumor MONDO:0001528|MONDO:0037003 MONDO:0853787 vulvar adenocarcinoma, intestinal-type NCIT:C128166 MONDO:equivalentTo Vulvar Adenocarcinoma, Intestinal-Type MONDO:0024336|MONDO:0006254|MONDO:0004957 MONDO:0853788 vulvar keratoacanthoma NCIT:C128167 MONDO:equivalentTo Vulvar Keratoacanthoma MONDO:0024609|MONDO:0002527 -MONDO:0853789 46,xy sex reversal 1 NCIT:C128188 MONDO:equivalentTo 46,XY Sex Reversal 1 MONDO:0020040 MONDO:0853790 vulvar hidradenoma papilliferum NCIT:C128240 MONDO:equivalentTo Vulvar Hidradenoma Papilliferum MONDO:0003446 MONDO:0853791 vulvar fibroadenoma NCIT:C128242 MONDO:equivalentTo Vulvar Fibroadenoma MONDO:0000643 MONDO:0853792 vulvar large cell neuroendocrine carcinoma NCIT:C128245 MONDO:equivalentTo Vulvar Large Cell Neuroendocrine Carcinoma MONDO:0005057|MONDO:0056816 @@ -616,7 +614,6 @@ MONDO:0853815 early prosthetic valve endocarditis NCIT:C128357 MONDO:equivalentT MONDO:0853816 late prosthetic valve endocarditis NCIT:C128358 MONDO:equivalentTo Late Prosthetic Valve Endocarditis MONDO:0005025 MONDO:0853817 clinical infection NCIT:C128366 MONDO:equivalentTo Clinical Infection MONDO:0005550 MONDO:0853818 endogenous infection NCIT:C128367 MONDO:equivalentTo Endogenous Infection MONDO:0005550 -MONDO:0853819 fungal keratitis NCIT:C128370 MONDO:equivalentTo Fungal Keratitis MONDO:0003085 MONDO:0853820 severe malaria NCIT:C128372 MONDO:equivalentTo Severe Malaria MONDO:0005136 MONDO:0853821 infectious meningoencephalitis NCIT:C128375 MONDO:equivalentTo Infectious Meningoencephalitis MONDO:0005845|MONDO:0024619 MONDO:0853822 tuberculosis infection NCIT:C128377 MONDO:equivalentTo Tuberculosis Infection MONDO:0020590 @@ -626,7 +623,6 @@ MONDO:0853825 fungal pericarditis NCIT:C128406 MONDO:equivalentTo Fungal Pericar MONDO:0853826 bacterial peritonitis NCIT:C128407 MONDO:equivalentTo Bacterial Peritonitis MONDO:0004522 MONDO:0853827 acute sinusitis NCIT:C128411 MONDO:equivalentTo Acute Sinusitis MONDO:0005961 MONDO:0853828 pre-extensively drug-resistant tuberculosis NCIT:C128416 MONDO:equivalentTo Pre-Extensively Drug-Resistant Tuberculosis MONDO:0018076 -MONDO:0853829 extensively drug-resistant tuberculosis NCIT:C128417 MONDO:equivalentTo Extensively Drug-Resistant Tuberculosis MONDO:0018076 MONDO:0853830 southern tick-associated rash illness NCIT:C128427 MONDO:equivalentTo Southern Tick-Associated Rash Illness MONDO:0044746 MONDO:0853831 early latent syphilis NCIT:C128430 MONDO:equivalentTo Early Latent Syphilis MONDO:0005822 MONDO:0853832 rhinosinusitis NCIT:C128434 MONDO:equivalentTo Rhinosinusitis MONDO:0005961 @@ -655,7 +651,7 @@ MONDO:0853854 anaplastic oligoastrocytoma, not otherwise specified NCIT:C129324 MONDO:0853855 diffuse glioma NCIT:C129325 MONDO:equivalentTo Diffuse Glioma MONDO:0021042 MONDO:0853856 anaplastic pleomorphic xanthoastrocytoma NCIT:C129327 MONDO:equivalentTo Anaplastic Pleomorphic Xanthoastrocytoma MONDO:0019781|MONDO:0021640|MONDO:0020633 MONDO:0853857 diffuse leptomeningeal glioneuronal tumor NCIT:C129424 MONDO:equivalentTo Diffuse Leptomeningeal Glioneuronal Tumor MONDO:0016729 -MONDO:0853858 multinodular and vacuolated neuronal tumor NCIT:C129427 MONDO:equivalentTo Multinodular and Vacuolated Neuronal Tumor MONDO:0021374|MONDO:0016729 +MONDO:0853858 multinodular and vacuolated neuronal tumor NCIT:C129427 MONDO:equivalentTo Multinodular and Vacuolated Neuronal Tumor MONDO:0021374|MONDO:0016729|MONDO:0021632 MONDO:0853859 medulloblastoma, molecularly defined NCIT:C129439 MONDO:equivalentTo Medulloblastoma, Molecularly Defined MONDO:0007959 MONDO:0853860 medulloblastoma, not otherwise specified NCIT:C129447 MONDO:equivalentTo Medulloblastoma, Not Otherwise Specified MONDO:0007959 MONDO:0853861 small cell adenocarcinoma NCIT:C129449 MONDO:equivalentTo Small Cell Adenocarcinoma MONDO:0004970 @@ -675,9 +671,7 @@ MONDO:0853874 acquired hypothyroidism NCIT:C129644 MONDO:equivalentTo Acquired H MONDO:0853875 unresectable digestive system adenocarcinoma NCIT:C129654 MONDO:equivalentTo Unresectable Digestive System Adenocarcinoma MONDO:0004970 MONDO:0853876 autosomal dominant hypoparathyroidism NCIT:C129730 MONDO:equivalentTo Autosomal Dominant Hypoparathyroidism MONDO:0001220 MONDO:0853877 autosomal recessive hypoparathyroidism NCIT:C129731 MONDO:equivalentTo Autosomal Recessive Hypoparathyroidism MONDO:0001220 -MONDO:0853878 autosomal dominant osteopetrosis NCIT:C129732 MONDO:equivalentTo Autosomal Dominant Osteopetrosis MONDO:0017198 MONDO:0853879 autosomal dominant neurohypophyseal diabetes insipidus NCIT:C129736 MONDO:equivalentTo Autosomal Dominant Neurohypophyseal Diabetes Insipidus MONDO:0007450 -MONDO:0853880 monogenic diabetes NCIT:C129739 MONDO:equivalentTo Monogenic Diabetes MONDO:0005015 MONDO:0853881 acute myeloid leukemia with biallelic mutations of cebpa NCIT:C129782 MONDO:equivalentTo Acute Myeloid Leukemia with Biallelic Mutations of CEBPA MONDO:0017894 MONDO:0853882 acute myeloid leukemia with monoallelic mutations of cebpa NCIT:C129783 MONDO:equivalentTo Acute Myeloid Leukemia with Monoallelic Mutations of CEBPA MONDO:0017894 MONDO:0853883 unresectable thyroid gland carcinoma NCIT:C129784 MONDO:equivalentTo Unresectable Thyroid Gland Carcinoma MONDO:0015075 @@ -722,9 +716,6 @@ MONDO:0853921 nutritional rickets NCIT:C131447 MONDO:equivalentTo Nutritional Ri MONDO:0853922 recurrent ependymal tumor NCIT:C131617 MONDO:equivalentTo Recurrent Ependymal Tumor MONDO:0003266 MONDO:0853923 acquired factor i deficiency NCIT:C131621 MONDO:equivalentTo Acquired Factor I Deficiency MONDO:0020599 MONDO:0853924 acquired factor iii deficiency NCIT:C131623 MONDO:equivalentTo Acquired Factor III Deficiency MONDO:0020599 -MONDO:0853925 acquired factor v deficiency NCIT:C131624 MONDO:equivalentTo Acquired Factor V Deficiency MONDO:0020599|MONDO:0020586 -MONDO:0853926 acquired factor vii deficiency NCIT:C131625 MONDO:equivalentTo Acquired Factor VII Deficiency MONDO:0020599|MONDO:0009211 -MONDO:0853927 acquired factor xi deficiency NCIT:C131627 MONDO:equivalentTo Acquired Factor XI Deficiency MONDO:0020599|MONDO:0020587 MONDO:0853928 acquired factor xii deficiency NCIT:C131628 MONDO:equivalentTo Acquired Factor XII Deficiency MONDO:0020599|MONDO:0009315 MONDO:0853929 tissue factor deficiency NCIT:C131635 MONDO:equivalentTo Tissue Factor Deficiency MONDO:0002242 MONDO:0853930 erythrocyte adenylate kinase deficiency NCIT:C131640 MONDO:equivalentTo Erythrocyte Adenylate Kinase Deficiency MONDO:0019052|MONDO:0020585 @@ -832,8 +823,6 @@ MONDO:0854033 ileal neuroendocrine tumor by ajcc v8 stage NCIT:C135124 MONDO:equ MONDO:0854034 digestive system neuroendocrine tumor by ajcc v7 stage NCIT:C135129 MONDO:equivalentTo Digestive System Neuroendocrine Tumor by AJCC v7 Stage MONDO:0000386 MONDO:0854035 appendix neuroendocrine tumor by ajcc v7 stage NCIT:C135155 MONDO:equivalentTo Appendix Neuroendocrine Tumor by AJCC v7 Stage MONDO:0015066 MONDO:0854036 appendix neuroendocrine tumor by ajcc v8 stage NCIT:C135156 MONDO:equivalentTo Appendix Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015066 -MONDO:0854037 nuclear cataract NCIT:C135176 MONDO:equivalentTo Nuclear Cataract MONDO:0005129 -MONDO:0854038 cortical cataract NCIT:C135177 MONDO:equivalentTo Cortical Cataract MONDO:0005129 MONDO:0854039 posterior subcapsular cataract NCIT:C135180 MONDO:equivalentTo Posterior Subcapsular Cataract MONDO:0005129 MONDO:0854040 colon neuroendocrine tumor by ajcc v8 stage NCIT:C135214 MONDO:equivalentTo Colon Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015067 MONDO:0854041 rectal neuroendocrine tumor by ajcc v8 stage NCIT:C135527 MONDO:equivalentTo Rectal Neuroendocrine Tumor by AJCC v8 Stage MONDO:0015068 @@ -1164,7 +1153,6 @@ MONDO:0854365 resectable malignant neoplasm NCIT:C150602 MONDO:equivalentTo Rese MONDO:0854366 resectable sarcoma NCIT:C150605 MONDO:equivalentTo Resectable Sarcoma MONDO:0005089 MONDO:0854367 resectable liposarcoma NCIT:C150606 MONDO:equivalentTo Resectable Liposarcoma MONDO:0005060 MONDO:0854368 resectable dedifferentiated liposarcoma NCIT:C150607 MONDO:equivalentTo Resectable Dedifferentiated Liposarcoma MONDO:0020563 -MONDO:0854369 charcot-marie-tooth disease type 2a1 NCIT:C150609 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2A1 MONDO:0015626 MONDO:0854370 unresectable undifferentiated pleomorphic sarcoma NCIT:C150610 MONDO:equivalentTo Unresectable Undifferentiated Pleomorphic Sarcoma MONDO:0002142 MONDO:0854371 resectable undifferentiated pleomorphic sarcoma NCIT:C150611 MONDO:equivalentTo Resectable Undifferentiated Pleomorphic Sarcoma MONDO:0002142 MONDO:0854372 resectable neuroblastoma NCIT:C150620 MONDO:equivalentTo Resectable Neuroblastoma MONDO:0005072 @@ -1188,7 +1176,6 @@ MONDO:0854389 mixed phenotype acute leukemia, not otherwise specified, rare subt MONDO:0854390 resectable pancreatic ductal adenocarcinoma NCIT:C151995 MONDO:equivalentTo Resectable Pancreatic Ductal Adenocarcinoma MONDO:0005184 MONDO:0854391 distal esophagus adenocarcinoma NCIT:C152036 MONDO:equivalentTo Distal Esophagus Adenocarcinoma MONDO:0005028 MONDO:0854392 refractory fallopian tube carcinoma NCIT:C152047 MONDO:equivalentTo Refractory Fallopian Tube Carcinoma MONDO:0006206 -MONDO:0854393 telomere syndrome NCIT:C152065 MONDO:equivalentTo Telomere Syndrome MONDO:0002254 MONDO:0854394 metastatic sarcoma NCIT:C152076 MONDO:equivalentTo Metastatic Sarcoma MONDO:0005089|MONDO:0024880 MONDO:0854395 refractory malignant head and neck neoplasm NCIT:C152078 MONDO:equivalentTo Refractory Malignant Head and Neck Neoplasm MONDO:0005627|MONDO:0036501 MONDO:0854396 primary immunodeficiency syndrome NCIT:C152105 MONDO:equivalentTo Primary Immunodeficiency Syndrome MONDO:0021094 @@ -1286,7 +1273,6 @@ MONDO:0854487 sickle cell-hemoglobin d disease NCIT:C155310 MONDO:equivalentTo S MONDO:0854488 proliferative retinopathy NCIT:C155313 MONDO:equivalentTo Proliferative Retinopathy MONDO:0005283 MONDO:0854489 sarcoma of the extremity NCIT:C155647 MONDO:equivalentTo Sarcoma of the Extremity MONDO:0005089 MONDO:0854490 recurrent pancreatic adenocarcinoma NCIT:C155742 MONDO:equivalentTo Recurrent Pancreatic Adenocarcinoma MONDO:0006047 -MONDO:0854491 peroxisome biogenesis disorder NCIT:C155747 MONDO:equivalentTo Peroxisome Biogenesis Disorder MONDO:0019046 MONDO:0854492 mixed gangliocytoma-pituitary neuroendocrine tumor NCIT:C155767 MONDO:equivalentTo Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor MONDO:0021043|MONDO:0006373 MONDO:0854493 sellar neurocytoma NCIT:C155768 MONDO:equivalentTo Sellar Neurocytoma MONDO:0002720 MONDO:0854494 sellar neuroblastoma NCIT:C155772 MONDO:equivalentTo Sellar Neuroblastoma MONDO:0002720|MONDO:0005072 @@ -1412,15 +1398,13 @@ MONDO:0854613 thyroid gland leiomyoma NCIT:C156346 MONDO:equivalentTo Thyroid Gl MONDO:0854614 thyroid gland leiomyosarcoma NCIT:C156347 MONDO:equivalentTo Thyroid Gland Leiomyosarcoma MONDO:0003028|MONDO:0005058 MONDO:0854615 chemotherapy-induced peripheral neuropathy NCIT:C156348 MONDO:equivalentTo Chemotherapy-Induced Peripheral Neuropathy MONDO:0005244 MONDO:0854616 thyroid gland solitary fibrous tumor NCIT:C156349 MONDO:equivalentTo Thyroid Gland Solitary Fibrous Tumor MONDO:0016238|MONDO:0015074 -MONDO:0854617 torsion dystonia 6 NCIT:C156361 MONDO:equivalentTo Torsion Dystonia 6 MONDO:0044807 MONDO:0854618 thyroid gland histiocytic and dendritic cell neoplasm NCIT:C156406 MONDO:equivalentTo Thyroid Gland Histiocytic and Dendritic Cell Neoplasm MONDO:0015074 MONDO:0854619 thyroid gland follicular dendritic cell sarcoma NCIT:C156408 MONDO:equivalentTo Thyroid Gland Follicular Dendritic Cell Sarcoma MONDO:0002108 MONDO:0854620 thyroid gland rosai-dorfman disease NCIT:C156409 MONDO:equivalentTo Thyroid Gland Rosai-Dorfman Disease MONDO:0006412 -MONDO:0854621 trichothiodystrophy 1, photosensitive NCIT:C156433 MONDO:equivalentTo Trichothiodystrophy 1, Photosensitive MONDO:0018053 MONDO:0854622 epidermolysis bullosa dystrophica, autosomal recessive NCIT:C156446 MONDO:equivalentTo Epidermolysis Bullosa Dystrophica, Autosomal Recessive MONDO:0006543 MONDO:0854623 recurrent primary peritoneal serous adenocarcinoma NCIT:C156453 MONDO:equivalentTo Recurrent Primary Peritoneal Serous Adenocarcinoma MONDO:0006386 MONDO:0854624 extrapulmonary small cell neuroendocrine carcinoma NCIT:C156457 MONDO:equivalentTo Extrapulmonary Small Cell Neuroendocrine Carcinoma MONDO:0000402 -MONDO:0854625 brain ependymoma NCIT:C156462 MONDO:equivalentTo Brain Ependymoma MONDO:0016698 +MONDO:0854625 brain ependymoma NCIT:C156462 MONDO:equivalentTo Brain Ependymoma MONDO:0016698|MONDO:0021632 MONDO:0854626 succinate dehydrogenase-deficient renal cell carcinoma NCIT:C156464 MONDO:equivalentTo Succinate Dehydrogenase-Deficient Renal Cell Carcinoma MONDO:0005549 MONDO:0854627 refractory kaposi sarcoma NCIT:C156474 MONDO:equivalentTo Refractory Kaposi Sarcoma MONDO:0005055 MONDO:0854628 metastatic kaposi sarcoma NCIT:C156475 MONDO:equivalentTo Metastatic Kaposi Sarcoma MONDO:0005055 @@ -1441,7 +1425,6 @@ MONDO:0854642 recurrent acute myelomonocytic leukemia NCIT:C156717 MONDO:equival MONDO:0854643 recurrent acute myeloid leukemia with t (9;11) (p21.3; q23.3); mllt3-mll NCIT:C156719 MONDO:equivalentTo Recurrent Acute Myeloid Leukemia with t (9;11) (p21.3; q23.3); MLLT3-MLL MONDO:0020317 MONDO:0854644 recurrent acute erythroid leukemia NCIT:C156723 MONDO:equivalentTo Recurrent Acute Erythroid Leukemia MONDO:0017858 MONDO:0854645 recurrent acute megakaryoblastic leukemia NCIT:C156731 MONDO:equivalentTo Recurrent Acute Megakaryoblastic Leukemia MONDO:0018872 -MONDO:0854646 parathyroid gland adenoma NCIT:C156757 MONDO:equivalentTo Parathyroid Gland Adenoma MONDO:0000627|MONDO:0021463|MONDO:0004972 MONDO:0854647 metastatic basal cell carcinoma NCIT:C156769 MONDO:equivalentTo Metastatic Basal Cell Carcinoma MONDO:0024879|MONDO:0020804 MONDO:0854648 maternally derived graft versus host disease NCIT:C156790 MONDO:equivalentTo Maternally Derived Graft Versus Host Disease MONDO:0013730 MONDO:0854649 metastatic human papillomavirus-related malignant neoplasm NCIT:C156793 MONDO:equivalentTo Metastatic Human Papillomavirus-Related Malignant Neoplasm MONDO:0024880 @@ -1461,14 +1444,12 @@ MONDO:0854662 recurrent paraganglioma NCIT:C157125 MONDO:equivalentTo Recurrent MONDO:0854663 unresectable paraganglioma NCIT:C157126 MONDO:equivalentTo Unresectable Paraganglioma MONDO:0000448 MONDO:0854664 unresectable adrenal gland pheochromocytoma NCIT:C157128 MONDO:equivalentTo Unresectable Adrenal Gland Pheochromocytoma MONDO:0004974 MONDO:0854665 locally advanced adrenal gland pheochromocytoma NCIT:C157129 MONDO:equivalentTo Locally Advanced Adrenal Gland Pheochromocytoma MONDO:0006288 -MONDO:0854666 cerebral amyloid angiopathy, app-related NCIT:C157147 MONDO:equivalentTo Cerebral Amyloid Angiopathy, APP-Related MONDO:0005620 MONDO:0854667 congenital dyserythropoietic anemia type iv NCIT:C157148 MONDO:equivalentTo Congenital Dyserythropoietic Anemia Type IV MONDO:0019403 MONDO:0854668 spastic paraplegia 76 NCIT:C157150 MONDO:equivalentTo Spastic Paraplegia 76 MONDO:0019064 MONDO:0854669 breast histiocytoid carcinoma NCIT:C157235 MONDO:equivalentTo Breast Histiocytoid Carcinoma MONDO:0005051 MONDO:0854670 adrenal gland ganglioneuroblastoma, intermixed NCIT:C157243 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Intermixed MONDO:0004477|MONDO:0003326 MONDO:0854671 adrenal gland ganglioneuroblastoma, nodular NCIT:C157244 MONDO:equivalentTo Adrenal Gland Ganglioneuroblastoma, Nodular MONDO:0004477|MONDO:0003325 MONDO:0854672 composite paraganglioma NCIT:C157246 MONDO:equivalentTo Composite Paraganglioma MONDO:0000448 -MONDO:0854673 left ventricular noncompaction 7 NCIT:C157266 MONDO:equivalentTo Left Ventricular Noncompaction 7 MONDO:0018901 MONDO:0854674 unresectable skin squamous cell carcinoma NCIT:C157320 MONDO:equivalentTo Unresectable Skin Squamous Cell Carcinoma MONDO:0002529 MONDO:0854675 unresectable skin carcinoma NCIT:C157324 MONDO:equivalentTo Unresectable Skin Carcinoma MONDO:0002656 MONDO:0854676 unresectable basal cell carcinoma NCIT:C157330 MONDO:equivalentTo Unresectable Basal Cell Carcinoma MONDO:0020804 @@ -1477,8 +1458,6 @@ MONDO:0854678 refractory adenovirus infection NCIT:C157336 MONDO:equivalentTo Re MONDO:0854679 peripheral hemangioblastoma NCIT:C157450 MONDO:equivalentTo Peripheral Hemangioblastoma MONDO:0016748 MONDO:0854680 metastatic squamous cell carcinoma in the cervical lymph nodes NCIT:C157452 MONDO:equivalentTo Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes MONDO:0005438|MONDO:0044907 MONDO:0854681 islet glucagon cell hyperplasia NCIT:C157458 MONDO:equivalentTo Islet Glucagon Cell Hyperplasia MONDO:0005043 -MONDO:0854682 myopathy due to myoadenylate deaminase deficiency NCIT:C157504 MONDO:equivalentTo Myopathy due to Myoadenylate Deaminase Deficiency MONDO:0020123 -MONDO:0854683 dystonia 12 NCIT:C157577 MONDO:equivalentTo Dystonia 12 MONDO:0003441 MONDO:0854684 recurrent giant cell glioblastoma NCIT:C157600 MONDO:equivalentTo Recurrent Giant Cell Glioblastoma MONDO:0016682 MONDO:0854685 recurrent ependymoma NCIT:C157601 MONDO:equivalentTo Recurrent Ependymoma MONDO:0016698 MONDO:0854686 metastatic lung neuroendocrine neoplasm NCIT:C157602 MONDO:equivalentTo Metastatic Lung Neuroendocrine Neoplasm MONDO:0008903|MONDO:0005454 @@ -1498,8 +1477,6 @@ MONDO:0854699 refractory t-cell prolymphocytic leukemia NCIT:C157691 MONDO:equiv MONDO:0854700 recurrent aggressive nk-cell leukemia NCIT:C157692 MONDO:equivalentTo Recurrent Aggressive NK-Cell Leukemia MONDO:0019470 MONDO:0854701 refractory aggressive nk-cell leukemia NCIT:C157693 MONDO:equivalentTo Refractory Aggressive NK-Cell Leukemia MONDO:0019470 MONDO:0854702 refractory b-cell prolymphocytic leukemia NCIT:C157697 MONDO:equivalentTo Refractory B-Cell Prolymphocytic Leukemia MONDO:0019461 -MONDO:0854703 acquired cystic disease-associated renal cell carcinoma NCIT:C157718 MONDO:equivalentTo Acquired Cystic Disease-Associated Renal Cell Carcinoma MONDO:0005549 -MONDO:0854704 laryngeal papillomatosis NCIT:C157733 MONDO:equivalentTo Laryngeal Papillomatosis MONDO:0021071|MONDO:0018955 MONDO:0854705 kidney synovial sarcoma NCIT:C157737 MONDO:equivalentTo Kidney Synovial Sarcoma MONDO:0002930|MONDO:0010434 MONDO:0854706 kidney neuroendocrine neoplasm NCIT:C157743 MONDO:equivalentTo Kidney Neuroendocrine Neoplasm MONDO:0019496|MONDO:0021163 MONDO:0854707 childhood cystic nephroma NCIT:C157745 MONDO:equivalentTo Childhood Cystic Nephroma MONDO:0004356|MONDO:0002513 @@ -1521,7 +1498,6 @@ MONDO:0854722 metastatic infiltrating bladder urothelial carcinoma, nested varia MONDO:0854723 metastatic malignant genitourinary system neoplasm NCIT:C157774 MONDO:equivalentTo Metastatic Malignant Genitourinary System Neoplasm MONDO:0024880 MONDO:0854724 amoebiasis NCIT:C157785 MONDO:equivalentTo Amoebiasis MONDO:0005135 MONDO:0854725 campylobacter enteritis NCIT:C157804 MONDO:equivalentTo Campylobacter Enteritis MONDO:0005113 -MONDO:0854726 cholera NCIT:C157812 MONDO:equivalentTo Cholera MONDO:0005113 MONDO:0854727 chronic kidney disease due to diabetes mellitus NCIT:C157813 MONDO:equivalentTo Chronic Kidney Disease due to Diabetes Mellitus MONDO:0005300 MONDO:0854728 chronic kidney disease due to hypertension NCIT:C157814 MONDO:equivalentTo Chronic Kidney Disease due to Hypertension MONDO:0005300 MONDO:0854729 cirrhosis of the liver secondary to hepatitis b NCIT:C157817 MONDO:equivalentTo Cirrhosis of the Liver Secondary to Hepatitis B MONDO:0005155 @@ -1536,20 +1512,16 @@ MONDO:0854737 iodine deficiency NCIT:C157895 MONDO:equivalentTo Iodine Deficienc MONDO:0854738 non-infective inflammatory bowel disease NCIT:C157936 MONDO:equivalentTo Non-infective Inflammatory Bowel Disease MONDO:0005265 MONDO:0854739 non-ischemic stroke NCIT:C157937 MONDO:equivalentTo Non-ischemic Stroke MONDO:0005098 MONDO:0854740 nutritional deficiency NCIT:C157938 MONDO:equivalentTo Nutritional Deficiency MONDO:0005137 -MONDO:0854741 pneumococcal meningitis NCIT:C157958 MONDO:equivalentTo Pneumococcal Meningitis MONDO:0007015 MONDO:0854742 pneumococcal pneumonia NCIT:C157959 MONDO:equivalentTo Pneumococcal Pneumonia MONDO:0004652 MONDO:0854743 respiratory syncytial virus pneumonia NCIT:C157971 MONDO:equivalentTo Respiratory Syncytial Virus Pneumonia MONDO:0001577|MONDO:0005249 MONDO:0854744 rotaviral enteritis NCIT:C157973 MONDO:equivalentTo Rotaviral Enteritis MONDO:0005108 -MONDO:0854745 salmonellosis NCIT:C157974 MONDO:equivalentTo Salmonellosis MONDO:0005113 MONDO:0854746 sexually transmitted chlamydial disease NCIT:C157977 MONDO:equivalentTo Sexually Transmitted Chlamydial Disease MONDO:0005701 -MONDO:0854747 shigellosis NCIT:C157978 MONDO:equivalentTo Shigellosis MONDO:0005113 MONDO:0854748 subcutaneous disorder NCIT:C157995 MONDO:equivalentTo Subcutaneous Disorder MONDO:0005093 MONDO:0854749 kidney epithelioid angiomyolipoma NCIT:C158032 MONDO:equivalentTo Kidney Epithelioid Angiomyolipoma MONDO:0004555|MONDO:0002606 MONDO:0854750 kidney mixed epithelial and stromal tumor family NCIT:C158046 MONDO:equivalentTo Kidney Mixed Epithelial and Stromal Tumor Family MONDO:0021163 MONDO:0854751 recurrent b-cell prolymphocytic leukemia NCIT:C158081 MONDO:equivalentTo Recurrent B-Cell Prolymphocytic Leukemia MONDO:0019461 MONDO:0854752 refractory digestive system neuroendocrine neoplasm NCIT:C158088 MONDO:equivalentTo Refractory Digestive System Neuroendocrine Neoplasm MONDO:0024503 MONDO:0854753 refractory cholangiocarcinoma NCIT:C158101 MONDO:equivalentTo Refractory Cholangiocarcinoma MONDO:0019087 -MONDO:0854754 infantile liver failure syndrome 2 NCIT:C158135 MONDO:equivalentTo Infantile Liver Failure Syndrome 2 MONDO:0002254 MONDO:0854755 thoracic endometriosis NCIT:C158138 MONDO:equivalentTo Thoracic Endometriosis MONDO:0005133 MONDO:0854756 bladder non-invasive urothelial neoplasm NCIT:C158374 MONDO:equivalentTo Bladder Non-Invasive Urothelial Neoplasm MONDO:0003755|MONDO:0004987 MONDO:0854757 refractory endometrial serous adenocarcinoma NCIT:C158378 MONDO:equivalentTo Refractory Endometrial Serous Adenocarcinoma MONDO:0006196 @@ -1591,10 +1563,7 @@ MONDO:0854792 prostate neuroendocrine carcinoma NCIT:C158912 MONDO:equivalentTo MONDO:0854793 metastatic prostate neuroendocrine carcinoma NCIT:C158913 MONDO:equivalentTo Metastatic Prostate Neuroendocrine Carcinoma MONDO:0004956 MONDO:0854794 metastatic pancreatic ductal adenocarcinoma NCIT:C158960 MONDO:equivalentTo Metastatic Pancreatic Ductal Adenocarcinoma MONDO:0005184 MONDO:0854795 early stage pancreatic ductal adenocarcinoma NCIT:C158961 MONDO:equivalentTo Early Stage Pancreatic Ductal Adenocarcinoma MONDO:0005184 -MONDO:0854796 ah amyloidosis NCIT:C158962 MONDO:equivalentTo AH Amyloidosis MONDO:0017816 -MONDO:0854797 al amyloidosis NCIT:C158963 MONDO:equivalentTo AL Amyloidosis MONDO:0017816 MONDO:0854798 ahl amyloidosis NCIT:C158964 MONDO:equivalentTo AHL Amyloidosis MONDO:0017816 -MONDO:0854799 immunotactoid glomerulopathy NCIT:C158968 MONDO:equivalentTo Immunotactoid Glomerulopathy MONDO:0002462 MONDO:0854800 proliferative glomerulonephritis with monoclonal igg deposits NCIT:C158970 MONDO:equivalentTo Proliferative Glomerulonephritis with Monoclonal IgG Deposits MONDO:0003134 MONDO:0854801 c3 glomerulopathy with monoclonal gammopathy NCIT:C158971 MONDO:equivalentTo C3 Glomerulopathy with Monoclonal Gammopathy MONDO:0013892 MONDO:0854802 kidney angiosarcoma NCIT:C159205 MONDO:equivalentTo Kidney Angiosarcoma MONDO:0002930 @@ -1618,7 +1587,6 @@ MONDO:0854819 lymphoepithelioma-like carcinoma of the penis NCIT:C159252 MONDO:e MONDO:0854820 borderline ovarian mucinous tumor/atypical proliferative ovarian mucinous tumor with microinvasion NCIT:C159311 MONDO:equivalentTo Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion MONDO:0003756 MONDO:0854821 light chain fanconi syndrome NCIT:C159456 MONDO:equivalentTo Light Chain Fanconi Syndrome MONDO:0060779 MONDO:0854822 bladder endometrioid adenocarcinoma NCIT:C159542 MONDO:equivalentTo Bladder Endometrioid Adenocarcinoma MONDO:0002751|MONDO:0005026 -MONDO:0854823 joubert syndrome 7 NCIT:C159653 MONDO:equivalentTo Joubert Syndrome 7 MONDO:0018772 MONDO:0854824 mild non-bh4-deficient hyperphenylalaninemia NCIT:C159654 MONDO:equivalentTo Mild Non-BH4-Deficient Hyperphenylalaninemia MONDO:0009861 MONDO:0854825 calfan syndrome NCIT:C159655 MONDO:equivalentTo CALFAN Syndrome MONDO:0002254 MONDO:0854826 bladder melanoma NCIT:C159663 MONDO:equivalentTo Bladder Melanoma MONDO:0001187 @@ -1714,7 +1682,6 @@ MONDO:0854915 metastatic appendix carcinoma NCIT:C162275 MONDO:equivalentTo Meta MONDO:0854916 ebv-related gastric carcinoma NCIT:C162304 MONDO:equivalentTo EBV-Related Gastric Carcinoma MONDO:0004950 MONDO:0854917 ebv-related leiomyosarcoma NCIT:C162306 MONDO:equivalentTo EBV-Related Leiomyosarcoma MONDO:0005058 MONDO:0854918 glycogen storage disease type ia NCIT:C162398 MONDO:equivalentTo Glycogen Storage Disease Type Ia MONDO:0002413 -MONDO:0854919 cone-rod dystrophy 2 NCIT:C162399 MONDO:equivalentTo Cone-Rod Dystrophy 2 MONDO:0019118 MONDO:0854920 recurrent myelofibrosis NCIT:C162424 MONDO:equivalentTo Recurrent Myelofibrosis MONDO:0044903 MONDO:0854921 refractory myelofibrosis NCIT:C162425 MONDO:equivalentTo Refractory Myelofibrosis MONDO:0044903 MONDO:0854922 recurrent colon adenocarcinoma NCIT:C162442 MONDO:equivalentTo Recurrent Colon Adenocarcinoma MONDO:0002271 @@ -1811,9 +1778,8 @@ MONDO:0855012 metastatic paranasal sinus squamous cell carcinoma NCIT:C162876 MO MONDO:0855013 metastatic sinonasal squamous cell carcinoma NCIT:C162882 MONDO:equivalentTo Metastatic Sinonasal Squamous Cell Carcinoma MONDO:0044787 MONDO:0855014 immune effector cell associated neurotoxicity syndrome NCIT:C162909 MONDO:equivalentTo Immune Effector Cell Associated Neurotoxicity Syndrome MONDO:0005527 MONDO:0855015 non-invasive cribriform carcinoma NCIT:C162973 MONDO:equivalentTo Non-Invasive Cribriform Carcinoma MONDO:0006176 -MONDO:0855016 malignant brain glioma NCIT:C162993 MONDO:equivalentTo Malignant Brain Glioma MONDO:0100342|MONDO:0001657 +MONDO:0855016 malignant brain glioma NCIT:C162993 MONDO:equivalentTo Malignant Brain Glioma MONDO:0100342|MONDO:0001657|MONDO:0021632 MONDO:0855017 unresectable meningioma NCIT:C163006 MONDO:equivalentTo Unresectable Meningioma MONDO:0016642 -MONDO:0855018 spinocerebellar ataxia type 19/22 NCIT:C163756 MONDO:equivalentTo Spinocerebellar Ataxia Type 19/22 MONDO:0000437 MONDO:0855019 locally advanced pituitary neuroendocrine tumor NCIT:C163956 MONDO:equivalentTo Locally Advanced Pituitary Neuroendocrine Tumor MONDO:0017582 MONDO:0855020 metastatic unresectable pituitary neuroendocrine tumor NCIT:C163959 MONDO:equivalentTo Metastatic Unresectable Pituitary Neuroendocrine Tumor MONDO:0017582 MONDO:0855021 refractory gliosarcoma NCIT:C163962 MONDO:equivalentTo Refractory Gliosarcoma MONDO:0016681 @@ -1828,12 +1794,10 @@ MONDO:0855029 osteogenesis imperfecta type xix NCIT:C164153 MONDO:equivalentTo O MONDO:0855030 retinal dystrophy with or without extraocular anomalies NCIT:C164155 MONDO:equivalentTo Retinal Dystrophy with or without Extraocular Anomalies MONDO:0019118 MONDO:0855031 fumarate hydratase-deficient renal cell carcinoma NCIT:C164156 MONDO:equivalentTo Fumarate Hydratase-Deficient Renal Cell Carcinoma MONDO:0005549 MONDO:0855032 unresectable renal pelvis and ureter urothelial carcinoma NCIT:C164160 MONDO:equivalentTo Unresectable Renal Pelvis and Ureter Urothelial Carcinoma MONDO:0020654 -MONDO:0855033 chemotherapy-induced alopecia NCIT:C164162 MONDO:equivalentTo Chemotherapy-Induced Alopecia MONDO:0004907 MONDO:0855034 aggressive prostate adenocarcinoma NCIT:C164185 MONDO:equivalentTo Aggressive Prostate Adenocarcinoma MONDO:0005082 MONDO:0855035 head and neck sarcoma NCIT:C164198 MONDO:equivalentTo Head and Neck Sarcoma MONDO:0005089|MONDO:0005627 MONDO:0855036 biphenotypic sinonasal sarcoma NCIT:C164205 MONDO:equivalentTo Biphenotypic Sinonasal Sarcoma MONDO:0002927 MONDO:0855037 recurrent pyogenic cholangitis NCIT:C164213 MONDO:equivalentTo Recurrent Pyogenic Cholangitis MONDO:0004789 -MONDO:0855038 nemaline myopathy 4 NCIT:C164225 MONDO:equivalentTo Nemaline Myopathy 4 MONDO:0005336 MONDO:0855039 refractory clear cell renal cell carcinoma NCIT:C164236 MONDO:equivalentTo Refractory Clear Cell Renal Cell Carcinoma MONDO:0005005 MONDO:0855040 warty carcinoma NCIT:C164248 MONDO:equivalentTo Warty Carcinoma MONDO:0002979 MONDO:0855041 differentiated intraepithelial neoplasia NCIT:C164249 MONDO:equivalentTo Differentiated Intraepithelial Neoplasia MONDO:0024474 @@ -1845,8 +1809,6 @@ MONDO:0855046 unresectable malignant peripheral nerve sheath tumor NCIT:C164312 MONDO:0855047 nf1-associated malignant peripheral nerve sheath tumor NCIT:C164313 MONDO:equivalentTo NF1-Associated Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 MONDO:0855048 sporadic malignant peripheral nerve sheath tumor NCIT:C164314 MONDO:equivalentTo Sporadic Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 MONDO:0855049 radiation-induced malignant peripheral nerve sheath tumor NCIT:C164316 MONDO:equivalentTo Radiation-Induced Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 -MONDO:0855050 warsaw breakage syndrome NCIT:C164675 MONDO:equivalentTo Warsaw Breakage Syndrome MONDO:0021190|MONDO:0002254 -MONDO:0855051 inflammatory bowel disease 28 NCIT:C164676 MONDO:equivalentTo Inflammatory Bowel Disease 28 MONDO:0005265 MONDO:0855052 fanconi anemia, complementation group l NCIT:C164677 MONDO:equivalentTo Fanconi Anemia, Complementation Group L MONDO:0019391 MONDO:0855053 unresectable liver and intrahepatic bile duct carcinoma NCIT:C165171 MONDO:equivalentTo Unresectable Liver and Intrahepatic Bile Duct Carcinoma MONDO:0018531 MONDO:0855054 unresectable ampulla of vater carcinoma NCIT:C165172 MONDO:equivalentTo Unresectable Ampulla of Vater Carcinoma MONDO:0017590 @@ -1884,8 +1846,6 @@ MONDO:0855085 lichen planus-like keratosis NCIT:C165485 MONDO:equivalentTo Liche MONDO:0855086 unresectable triple-negative breast carcinoma NCIT:C165491 MONDO:equivalentTo Unresectable Triple-Negative Breast Carcinoma MONDO:0005494 MONDO:0855087 spitz melanoma NCIT:C165497 MONDO:equivalentTo Spitz Melanoma MONDO:0005012 MONDO:0855088 pigmented epithelioid melanocytoma NCIT:C165498 MONDO:equivalentTo Pigmented Epithelioid Melanocytoma MONDO:0021583 -MONDO:0855089 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 NCIT:C165500 MONDO:equivalentTo Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 MONDO:0000437 -MONDO:0855090 aicardi-goutieres syndrome 1 NCIT:C165501 MONDO:equivalentTo Aicardi-Goutieres Syndrome 1 MONDO:0002254 MONDO:0855091 reserve cell hyperplasia NCIT:C165504 MONDO:equivalentTo Reserve Cell Hyperplasia MONDO:0005043 MONDO:0855092 bap1-inactivated skin melanocytic neoplasm NCIT:C165522 MONDO:equivalentTo BAP1-Inactivated Skin Melanocytic Neoplasm MONDO:0021583 MONDO:0855093 familial partial lipodystrophy type 2 NCIT:C165527 MONDO:equivalentTo Familial Partial Lipodystrophy Type 2 MONDO:0020088 @@ -1903,8 +1863,6 @@ MONDO:0855104 proximal gastric adenocarcinoma NCIT:C165628 MONDO:equivalentTo Pr MONDO:0855105 localized malignant pancreatic neoplasm NCIT:C165631 MONDO:equivalentTo Localized Malignant Pancreatic Neoplasm MONDO:0009831 MONDO:0855106 high-csd melanoma NCIT:C165659 MONDO:equivalentTo High-CSD Melanoma MONDO:0005012 MONDO:0855107 ewsr1-negative small round cell tumor NCIT:C165671 MONDO:equivalentTo EWSR1-Negative Small Round Cell Tumor MONDO:0006974 -MONDO:0855108 aicardi-goutieres syndrome 2 NCIT:C165673 MONDO:equivalentTo Aicardi-Goutieres Syndrome 2 MONDO:0002254 -MONDO:0855109 relapsing-remitting multiple sclerosis NCIT:C165675 MONDO:equivalentTo Relapsing-Remitting Multiple Sclerosis MONDO:0005301 MONDO:0855110 metastatic breast adenocarcinoma NCIT:C165698 MONDO:equivalentTo Metastatic Breast Adenocarcinoma MONDO:0004988 MONDO:0855111 refractory bladder urothelial carcinoma NCIT:C165702 MONDO:equivalentTo Refractory Bladder Urothelial Carcinoma MONDO:0005611 MONDO:0855112 refractory breast adenocarcinoma NCIT:C165703 MONDO:equivalentTo Refractory Breast Adenocarcinoma MONDO:0004988 @@ -1918,7 +1876,6 @@ MONDO:0855119 transformed mycosis fungoides NCIT:C165783 MONDO:equivalentTo Tran MONDO:0855120 recurrent myeloproliferative neoplasm NCIT:C166142 MONDO:equivalentTo Recurrent Myeloproliferative Neoplasm MONDO:0020076 MONDO:0855121 recurrent myelodysplastic/myeloproliferative neoplasm NCIT:C166143 MONDO:equivalentTo Recurrent Myelodysplastic/Myeloproliferative Neoplasm MONDO:0006311 MONDO:0855122 lymphedema of the head and neck NCIT:C166151 MONDO:equivalentTo Lymphedema of the Head and Neck MONDO:0019297 -MONDO:0855123 severe congenital neutropenia NCIT:C166152 MONDO:equivalentTo Severe Congenital Neutropenia MONDO:0015134 MONDO:0855124 resectable glioblastoma NCIT:C166156 MONDO:equivalentTo Resectable Glioblastoma MONDO:0018177 MONDO:0855125 advanced anaplastic large cell lymphoma NCIT:C166180 MONDO:equivalentTo Advanced Anaplastic Large Cell Lymphoma MONDO:0020325 MONDO:0855126 metastatic primary malignant central nervous system neoplasm NCIT:C166181 MONDO:equivalentTo Metastatic Primary Malignant Central Nervous System Neoplasm MONDO:0024880 @@ -1939,12 +1896,10 @@ MONDO:0855140 obesity-related malignant neoplasm NCIT:C167168 MONDO:equivalentTo MONDO:0855141 brca-associated breast carcinoma NCIT:C167189 MONDO:equivalentTo BRCA-Associated Breast Carcinoma MONDO:0016419 MONDO:0855142 palb2-associated breast carcinoma NCIT:C167193 MONDO:equivalentTo PALB2-Associated Breast Carcinoma MONDO:0016419 MONDO:0855143 metastatic primary peritoneal carcinoma NCIT:C167203 MONDO:equivalentTo Metastatic Primary Peritoneal Carcinoma MONDO:0015686|MONDO:0024879 -MONDO:0855144 autosomal recessive osteopetrosis 1 NCIT:C167215 MONDO:equivalentTo Autosomal Recessive Osteopetrosis 1 MONDO:0019026 MONDO:0855145 metastatic nasal cavity squamous cell carcinoma NCIT:C167236 MONDO:equivalentTo Metastatic Nasal Cavity Squamous Cell Carcinoma MONDO:0006059 MONDO:0855146 resectable colon carcinoma NCIT:C167237 MONDO:equivalentTo Resectable Colon Carcinoma MONDO:0002032 MONDO:0855147 refractory prostate carcinoma NCIT:C167255 MONDO:equivalentTo Refractory Prostate Carcinoma MONDO:0005159 MONDO:0855148 refractory prostate adenocarcinoma NCIT:C167256 MONDO:equivalentTo Refractory Prostate Adenocarcinoma MONDO:0005082 -MONDO:0855149 nasopharyngeal squamous cell carcinoma NCIT:C167265 MONDO:equivalentTo Nasopharyngeal Squamous Cell Carcinoma MONDO:0015459|MONDO:0000536 MONDO:0855150 midgut neuroendocrine tumor NCIT:C167327 MONDO:equivalentTo Midgut Neuroendocrine Tumor MONDO:0000386 MONDO:0855151 adnexal adenocarcinoma, not otherwise specified NCIT:C167341 MONDO:equivalentTo Adnexal Adenocarcinoma, Not Otherwise Specified MONDO:0006973|MONDO:0004970 MONDO:0855152 spiradenocylindroma NCIT:C167342 MONDO:equivalentTo Spiradenocylindroma MONDO:0021489 @@ -1963,16 +1918,13 @@ MONDO:0855164 muscular dystrophy secondary to mitochondrial disorder NCIT:C16833 MONDO:0855165 muscular dystrophy secondary to oxidative phosphorylation disorder NCIT:C168332 MONDO:equivalentTo Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder MONDO:0020121 MONDO:0855166 myopathy secondary to fatty acid oxidation disorder NCIT:C168339 MONDO:equivalentTo Myopathy Secondary to Fatty Acid Oxidation Disorder MONDO:0005336 MONDO:0855167 myopathy secondary to glycogen storage disorder NCIT:C168340 MONDO:equivalentTo Myopathy Secondary to Glycogen Storage Disorder MONDO:0005336 -MONDO:0855168 sydenham chorea NCIT:C168445 MONDO:equivalentTo Sydenham Chorea MONDO:0001595 MONDO:0855169 gastrointestinal tract acute graft versus host disease NCIT:C168539 MONDO:equivalentTo Gastrointestinal Tract Acute Graft Versus Host Disease MONDO:0020546 MONDO:0855170 metastatic pleural malignant mesothelioma NCIT:C168545 MONDO:equivalentTo Metastatic Pleural Malignant Mesothelioma MONDO:0005112 MONDO:0855171 idh inhibitor associated differentiation syndrome NCIT:C168571 MONDO:equivalentTo IDH Inhibitor Associated Differentiation Syndrome MONDO:0002254 MONDO:0855172 unresectable differentiated thyroid gland carcinoma NCIT:C168572 MONDO:equivalentTo Unresectable Differentiated Thyroid Gland Carcinoma MONDO:0015447 MONDO:0855173 resectable glioma NCIT:C168573 MONDO:equivalentTo Resectable Glioma MONDO:0021042 MONDO:0855174 steroid resistant acute graft versus host disease NCIT:C168582 MONDO:equivalentTo Steroid Resistant Acute Graft Versus Host Disease MONDO:0020546 -MONDO:0855175 aicardi-goutieres syndrome 7 NCIT:C168585 MONDO:equivalentTo Aicardi-Goutieres Syndrome 7 MONDO:0002254 MONDO:0855176 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities NCIT:C168587 MONDO:equivalentTo Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities MONDO:0019118 -MONDO:0855177 senior-loken syndrome NCIT:C168588 MONDO:equivalentTo Senior-Loken Syndrome MONDO:0002254 MONDO:0855178 cd70 deficiency NCIT:C168591 MONDO:equivalentTo CD70 Deficiency MONDO:0021094 MONDO:0855179 developmental and epileptic encephalopathy 25 NCIT:C168597 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 25 MONDO:0100062 MONDO:0855180 glut1 deficiency syndrome 1 NCIT:C168599 MONDO:equivalentTo GLUT1 Deficiency Syndrome 1 MONDO:0002254 @@ -1983,31 +1935,21 @@ MONDO:0855184 unresectable angiosarcoma NCIT:C168718 MONDO:equivalentTo Unresect MONDO:0855185 unresectable myxoid liposarcoma NCIT:C168719 MONDO:equivalentTo Unresectable Myxoid Liposarcoma MONDO:0013280 MONDO:0855186 unresectable epithelioid hemangioendothelioma NCIT:C168723 MONDO:equivalentTo Unresectable Epithelioid Hemangioendothelioma MONDO:0015523 MONDO:0855187 unresectable round cell liposarcoma NCIT:C168724 MONDO:equivalentTo Unresectable Round Cell Liposarcoma MONDO:0005238 -MONDO:0855188 dystonia 16 NCIT:C168729 MONDO:equivalentTo Dystonia 16 MONDO:0003441 -MONDO:0855189 oculocutaneous albinism type 1a NCIT:C168731 MONDO:equivalentTo Oculocutaneous Albinism Type 1A MONDO:0018910 -MONDO:0855190 stickler syndrome type 1 NCIT:C168733 MONDO:equivalentTo Stickler Syndrome Type 1 MONDO:0019354 MONDO:0855191 amyotrophic lateral sclerosis 1 NCIT:C168749 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 1 MONDO:0004976 MONDO:0855192 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia NCIT:C168750 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia MONDO:0004976 MONDO:0855193 amyotrophic lateral sclerosis 8 NCIT:C168751 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 8 MONDO:0004976 MONDO:0855194 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia NCIT:C168752 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia MONDO:0004976 MONDO:0855195 amyotrophic lateral sclerosis 11 NCIT:C168753 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 11 MONDO:0004976 MONDO:0855196 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia NCIT:C168754 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia MONDO:0004976 -MONDO:0855197 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 NCIT:C168756 MONDO:equivalentTo Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 MONDO:0005559 -MONDO:0855198 achromatopsia 2 NCIT:C168757 MONDO:equivalentTo Achromatopsia 2 MONDO:0018852 MONDO:0855199 metastatic her2-negative breast carcinoma NCIT:C168777 MONDO:equivalentTo Metastatic HER2-Negative Breast Carcinoma MONDO:0000618 MONDO:0855200 refractory her2-negative breast carcinoma NCIT:C168784 MONDO:equivalentTo Refractory HER2-Negative Breast Carcinoma MONDO:0000618 MONDO:0855201 unresectable neuroendocrine neoplasm NCIT:C168973 MONDO:equivalentTo Unresectable Neuroendocrine Neoplasm MONDO:0019496 -MONDO:0855202 charcot-marie-tooth disease type 2y NCIT:C168974 MONDO:equivalentTo Charcot-Marie-Tooth Disease Type 2Y MONDO:0015626 MONDO:0855203 cutaneous histiocytic and dendritic cell neoplasm NCIT:C168980 MONDO:equivalentTo Cutaneous Histiocytic and Dendritic Cell Neoplasm MONDO:0006247 MONDO:0855204 cutaneous langerhans cell histiocytosis NCIT:C168983 MONDO:equivalentTo Cutaneous Langerhans Cell Histiocytosis MONDO:0018310 MONDO:0855205 cutaneous indeterminate dendritic cell tumor NCIT:C168984 MONDO:equivalentTo Cutaneous Indeterminate Dendritic Cell Tumor MONDO:0015538 MONDO:0855206 cutaneous rosai-dorfman disease NCIT:C168986 MONDO:equivalentTo Cutaneous Rosai-Dorfman Disease MONDO:0006412 MONDO:0855207 high density lipoprotein cholesterol level quantitative trait locus 6 NCIT:C168987 MONDO:equivalentTo High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 MONDO:0005066 -MONDO:0855208 sertoli cell-only syndrome NCIT:C168988 MONDO:equivalentTo Sertoli Cell-Only Syndrome MONDO:0002254 -MONDO:0855209 mosaic variegated aneuploidy syndrome 2 NCIT:C168989 MONDO:equivalentTo Mosaic Variegated Aneuploidy Syndrome 2 MONDO:0002254 -MONDO:0855210 bartsocas-papas syndrome NCIT:C168990 MONDO:equivalentTo Bartsocas-Papas Syndrome MONDO:0002254 MONDO:0855211 cutaneous erdheim-chester disease NCIT:C168991 MONDO:equivalentTo Cutaneous Erdheim-Chester Disease MONDO:0018153 -MONDO:0855212 congenital myasthenic syndrome 12 NCIT:C168997 MONDO:equivalentTo Congenital Myasthenic Syndrome 12 MONDO:0018940 MONDO:0855213 glycogen storage disease type xi NCIT:C168998 MONDO:equivalentTo Glycogen Storage Disease Type XI MONDO:0002412 MONDO:0855214 macular dystrophy, retinal, 1 NCIT:C168999 MONDO:equivalentTo Macular Dystrophy, Retinal, 1 MONDO:0020242 MONDO:0855215 optic atrophy 1 NCIT:C169000 MONDO:equivalentTo Optic Atrophy 1 MONDO:0043878 @@ -2048,7 +1990,6 @@ MONDO:0855249 non-muscle invasive bladder urothelial carcinoma NCIT:C170772 MOND MONDO:0855250 alveolar ridge squamous cell carcinoma NCIT:C170774 MONDO:equivalentTo Alveolar Ridge Squamous Cell Carcinoma MONDO:0004958 MONDO:0855251 metastatic rectal squamous cell carcinoma NCIT:C170779 MONDO:equivalentTo Metastatic Rectal Squamous Cell Carcinoma MONDO:0018515|MONDO:0044907 MONDO:0855252 metastatic malignant skin neoplasm NCIT:C170811 MONDO:equivalentTo Metastatic Malignant Skin Neoplasm MONDO:0024880|MONDO:0002898 -MONDO:0855253 primary brain neoplasm NCIT:C170814 MONDO:equivalentTo Primary Brain Neoplasm MONDO:0021211 MONDO:0855254 unresectable desmoplastic small round cell tumor NCIT:C170826 MONDO:equivalentTo Unresectable Desmoplastic Small Round Cell Tumor MONDO:0019373 MONDO:0855255 metastatic desmoplastic small round cell tumor NCIT:C170827 MONDO:equivalentTo Metastatic Desmoplastic Small Round Cell Tumor MONDO:0019373 MONDO:0855256 metastatic rhabdoid tumor NCIT:C170828 MONDO:equivalentTo Metastatic Rhabdoid Tumor MONDO:0002728|MONDO:0024880 @@ -2077,7 +2018,6 @@ MONDO:0855278 metastatic primary peritoneal serous adenocarcinoma NCIT:C171019 M MONDO:0855279 unresectable primary peritoneal serous adenocarcinoma NCIT:C171020 MONDO:equivalentTo Unresectable Primary Peritoneal Serous Adenocarcinoma MONDO:0006386 MONDO:0855280 refractory primary peritoneal serous adenocarcinoma NCIT:C171021 MONDO:equivalentTo Refractory Primary Peritoneal Serous Adenocarcinoma MONDO:0006386 MONDO:0855281 human papillomavirus-related mucosal head and neck squamous cell carcinoma NCIT:C171023 MONDO:equivalentTo Human Papillomavirus-Related Mucosal Head and Neck Squamous Cell Carcinoma MONDO:0010150|MONDO:0020657 -MONDO:0855282 thymic neuroendocrine carcinoma NCIT:C171031 MONDO:equivalentTo Thymic Neuroendocrine Carcinoma MONDO:0006451 MONDO:0855283 ovarian neuroendocrine carcinoma NCIT:C171032 MONDO:equivalentTo Ovarian Neuroendocrine Carcinoma MONDO:0002481|MONDO:0005140 MONDO:0855284 endometrial neuroendocrine carcinoma NCIT:C171033 MONDO:equivalentTo Endometrial Neuroendocrine Carcinoma MONDO:0002447|MONDO:0021650 MONDO:0855285 mediastinal non-hodgkin lymphoma NCIT:C171037 MONDO:equivalentTo Mediastinal Non-Hodgkin Lymphoma MONDO:0004021|MONDO:0018908 @@ -2085,7 +2025,6 @@ MONDO:0855286 refractory hairy cell leukemia variant NCIT:C171064 MONDO:equivale MONDO:0855287 recurrent hairy cell leukemia variant NCIT:C171065 MONDO:equivalentTo Recurrent Hairy Cell Leukemia Variant MONDO:0017600 MONDO:0855288 qualitative platelet disorder NCIT:C171098 MONDO:equivalentTo Qualitative Platelet Disorder MONDO:0002245 MONDO:0855289 hpv16 infection NCIT:C171100 MONDO:equivalentTo HPV16 Infection MONDO:0005161 -MONDO:0855290 nocardiosis NCIT:C171147 MONDO:equivalentTo Nocardiosis MONDO:0005113 MONDO:0855291 wasting syndrome NCIT:C171148 MONDO:equivalentTo Wasting Syndrome MONDO:0002254 MONDO:0855292 refractory extraskeletal myxoid chondrosarcoma NCIT:C171168 MONDO:equivalentTo Refractory Extraskeletal Myxoid Chondrosarcoma MONDO:0012825 MONDO:0855293 extrarenal rhabdoid tumor of the ovary NCIT:C171169 MONDO:equivalentTo Extrarenal Rhabdoid Tumor of the Ovary MONDO:0008170|MONDO:0044916 @@ -2111,7 +2050,6 @@ MONDO:0855312 covid-19-associated cerebrovascular accident NCIT:C171560 MONDO:eq MONDO:0855313 covid-19-associated coagulation disorder NCIT:C171562 MONDO:equivalentTo COVID-19-Associated Coagulation Disorder MONDO:0001531 MONDO:0855314 metastatic chromophobe renal cell carcinoma NCIT:C171580 MONDO:equivalentTo Metastatic Chromophobe Renal Cell Carcinoma MONDO:0017885 MONDO:0855315 unresectable colorectal adenocarcinoma NCIT:C171585 MONDO:equivalentTo Unresectable Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0855316 peripartum cardiomyopathy NCIT:C171602 MONDO:equivalentTo Peripartum Cardiomyopathy MONDO:0004994 MONDO:0855317 refractory esophageal carcinoma NCIT:C171604 MONDO:equivalentTo Refractory Esophageal Carcinoma MONDO:0019086 MONDO:0855318 refractory esophageal squamous cell carcinoma NCIT:C171606 MONDO:equivalentTo Refractory Esophageal Squamous Cell Carcinoma MONDO:0005580 MONDO:0855319 unresectable esophageal squamous cell carcinoma NCIT:C171608 MONDO:equivalentTo Unresectable Esophageal Squamous Cell Carcinoma MONDO:0005580 @@ -2122,7 +2060,6 @@ MONDO:0855323 toxic anterior segment syndrome NCIT:C172040 MONDO:equivalentTo To MONDO:0855324 drug resistant bacterial infection NCIT:C172076 MONDO:equivalentTo Drug Resistant Bacterial Infection MONDO:0005113 MONDO:0855325 familial hypertrophic cardiomyopathy type 1 NCIT:C172092 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 1 MONDO:0024573 MONDO:0855326 familial hypertrophic cardiomyopathy type 17 NCIT:C172093 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 17 MONDO:0024573 -MONDO:0855327 long qt syndrome 5 NCIT:C172094 MONDO:equivalentTo Long QT Syndrome 5 MONDO:0002442 MONDO:0855328 developmental and epileptic encephalopathy 11 NCIT:C172096 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 11 MONDO:0100062 MONDO:0855329 stat1-associated immunodeficiency NCIT:C172099 MONDO:equivalentTo STAT1-Associated Immunodeficiency MONDO:0021094 MONDO:0855330 acute myeloid leukemia arising from previous myeloproliferative neoplasm NCIT:C172129 MONDO:equivalentTo Acute Myeloid Leukemia Arising from Previous Myeloproliferative Neoplasm MONDO:0019457 @@ -2132,9 +2069,6 @@ MONDO:0855333 recurrent malignant lymphoid neoplasm NCIT:C172133 MONDO:equivalen MONDO:0855334 cutaneous acute graft versus host disease NCIT:C172160 MONDO:equivalentTo Cutaneous Acute Graft versus Host Disease MONDO:0020546 MONDO:0855335 progesterone receptor expressing malignant neoplasm NCIT:C172183 MONDO:equivalentTo Progesterone Receptor Expressing Malignant Neoplasm MONDO:0004992 MONDO:0855336 sinusoidal hemangioma NCIT:C172206 MONDO:equivalentTo Sinusoidal Hemangioma MONDO:0006557 -MONDO:0855337 rapidly involuting congenital hemangioma NCIT:C172207 MONDO:equivalentTo Rapidly Involuting Congenital Hemangioma MONDO:0018715 -MONDO:0855338 non-involuting congenital hemangioma NCIT:C172208 MONDO:equivalentTo Non-Involuting Congenital Hemangioma MONDO:0018715 -MONDO:0855339 partially involuting congenital hemangioma NCIT:C172209 MONDO:equivalentTo Partially Involuting Congenital Hemangioma MONDO:0018715 MONDO:0855340 metastatic ovarian undifferentiated carcinoma NCIT:C172234 MONDO:equivalentTo Metastatic Ovarian Undifferentiated Carcinoma MONDO:0006477 MONDO:0855341 unresectable ovarian undifferentiated carcinoma NCIT:C172235 MONDO:equivalentTo Unresectable Ovarian Undifferentiated Carcinoma MONDO:0006477 MONDO:0855342 unresectable pancreatic ductal adenocarcinoma NCIT:C172245 MONDO:equivalentTo Unresectable Pancreatic Ductal Adenocarcinoma MONDO:0005184 @@ -2187,7 +2121,6 @@ MONDO:0855388 rectal conventional adenoma NCIT:C172683 MONDO:equivalentTo Rectal MONDO:0855389 colorectal poorly cohesive adenocarcinoma NCIT:C172694 MONDO:equivalentTo Colorectal Poorly Cohesive Adenocarcinoma MONDO:0005008 MONDO:0855390 colorectal adenoma-like adenocarcinoma NCIT:C172699 MONDO:equivalentTo Colorectal Adenoma-Like Adenocarcinoma MONDO:0005008|MONDO:0003204 MONDO:0855391 inflammatory bowel disease-associated colorectal adenocarcinoma NCIT:C172700 MONDO:equivalentTo Inflammatory Bowel Disease-Associated Colorectal Adenocarcinoma MONDO:0005008 -MONDO:0855392 facioscapulohumeral muscular dystrophy 1 NCIT:C172704 MONDO:equivalentTo Facioscapulohumeral Muscular Dystrophy 1 MONDO:0001347 MONDO:0855393 steatohepatitic hepatocellular carcinoma NCIT:C172709 MONDO:equivalentTo Steatohepatitic Hepatocellular Carcinoma MONDO:0007256 MONDO:0855394 macrotrabecular massive hepatocellular carcinoma NCIT:C172710 MONDO:equivalentTo Macrotrabecular Massive Hepatocellular Carcinoma MONDO:0007256 MONDO:0855395 chromophobe hepatocellular carcinoma NCIT:C172712 MONDO:equivalentTo Chromophobe Hepatocellular Carcinoma MONDO:0007256 @@ -2224,24 +2157,15 @@ MONDO:0855425 digestive system lipoma NCIT:C172945 MONDO:equivalentTo Digestive MONDO:0855426 digestive system leiomyosarcoma NCIT:C172951 MONDO:equivalentTo Digestive System Leiomyosarcoma MONDO:0005058 MONDO:0855427 digestive system rhabdomyosarcoma NCIT:C172952 MONDO:equivalentTo Digestive System Rhabdomyosarcoma MONDO:0005212 MONDO:0855428 digestive system kaposi sarcoma NCIT:C172955 MONDO:equivalentTo Digestive System Kaposi Sarcoma MONDO:0005055 -MONDO:0855429 gastric adenocarcinoma and proximal polyposis of the stomach NCIT:C172989 MONDO:equivalentTo Gastric Adenocarcinoma and Proximal Polyposis of the Stomach MONDO:0015356 MONDO:0855430 sinonasal keratinizing squamous cell carcinoma NCIT:C173077 MONDO:equivalentTo Sinonasal Keratinizing Squamous Cell Carcinoma MONDO:0044787 MONDO:0855431 sinonasal human papillomavirus-related carcinoma with adenoid cystic-like features NCIT:C173078 MONDO:equivalentTo Sinonasal Human Papillomavirus-Related Carcinoma with Adenoid Cystic-Like Features MONDO:0002831 MONDO:0855432 sinonasal spindle cell squamous cell carcinoma NCIT:C173079 MONDO:equivalentTo Sinonasal Spindle Cell Squamous Cell Carcinoma MONDO:0044787|MONDO:0021663 MONDO:0855433 sinonasal lymphoepithelial carcinoma NCIT:C173080 MONDO:equivalentTo Sinonasal Lymphoepithelial Carcinoma MONDO:0002831|MONDO:0003572 -MONDO:0855434 cerebrooculofacioskeletal syndrome 1 NCIT:C173085 MONDO:equivalentTo Cerebrooculofacioskeletal Syndrome 1 MONDO:0008926 MONDO:0855435 head and neck nut carcinoma NCIT:C173087 MONDO:equivalentTo Head and Neck NUT Carcinoma MONDO:0005563|MONDO:0002038 MONDO:0855436 sinonasal neuroendocrine carcinoma NCIT:C173089 MONDO:equivalentTo Sinonasal Neuroendocrine Carcinoma MONDO:0056819 MONDO:0855437 sinonasal teratocarcinosarcoma NCIT:C173094 MONDO:equivalentTo Sinonasal Teratocarcinosarcoma MONDO:0005853 MONDO:0855438 benign sinonasal neoplasm NCIT:C173095 MONDO:equivalentTo Benign Sinonasal Neoplasm MONDO:0056820 MONDO:0855439 malignant sinonasal neoplasm NCIT:C173097 MONDO:equivalentTo Malignant Sinonasal Neoplasm MONDO:0056820|MONDO:0005627 -MONDO:0855440 trichothiodystrophy 3, photosensitive NCIT:C173099 MONDO:equivalentTo Trichothiodystrophy 3, Photosensitive MONDO:0018053 -MONDO:0855441 trichothiodystrophy 7, nonphotosensitive NCIT:C173102 MONDO:equivalentTo Trichothiodystrophy 7, Nonphotosensitive MONDO:0018053 -MONDO:0855442 trichothiodystrophy 2, photosensitive NCIT:C173103 MONDO:equivalentTo Trichothiodystrophy 2, Photosensitive MONDO:0018053 -MONDO:0855443 uv-sensitive syndrome 1 NCIT:C173106 MONDO:equivalentTo UV-Sensitive Syndrome 1 MONDO:0002254 -MONDO:0855444 uv-sensitive syndrome 3 NCIT:C173107 MONDO:equivalentTo UV-Sensitive Syndrome 3 MONDO:0002254 -MONDO:0855445 uv-sensitive syndrome 2 NCIT:C173110 MONDO:equivalentTo UV-Sensitive Syndrome 2 MONDO:0002254 -MONDO:0855446 xfe progeroid syndrome NCIT:C173111 MONDO:equivalentTo XFE Progeroid Syndrome MONDO:0002254 MONDO:0855447 sinonasal respiratory epithelial adenomatoid hamartoma NCIT:C173112 MONDO:equivalentTo Sinonasal Respiratory Epithelial Adenomatoid Hamartoma MONDO:0006499 MONDO:0855448 sinonasal seromucinous hamartoma NCIT:C173113 MONDO:equivalentTo Sinonasal Seromucinous Hamartoma MONDO:0006499 MONDO:0855449 sinonasal soft tissue neoplasm NCIT:C173117 MONDO:equivalentTo Sinonasal Soft Tissue Neoplasm MONDO:0056820|MONDO:0006424 @@ -2252,7 +2176,6 @@ MONDO:0855453 sinonasal rhabdomyosarcoma NCIT:C173124 MONDO:equivalentTo Sinonas MONDO:0855454 secondary hemochromatosis NCIT:C173126 MONDO:equivalentTo Secondary Hemochromatosis MONDO:0001436 MONDO:0855455 sinonasal malignant peripheral nerve sheath tumor NCIT:C173127 MONDO:equivalentTo Sinonasal Malignant Peripheral Nerve Sheath Tumor MONDO:0017827 MONDO:0855456 sinonasal synovial sarcoma NCIT:C173128 MONDO:equivalentTo Sinonasal Synovial Sarcoma MONDO:0010434 -MONDO:0855457 dyschromatosis universalis hereditaria NCIT:C173131 MONDO:equivalentTo Dyschromatosis Universalis Hereditaria MONDO:0002254 MONDO:0855458 sinonasal solitary fibrous tumor NCIT:C173137 MONDO:equivalentTo Sinonasal Solitary Fibrous Tumor MONDO:0016238 MONDO:0855459 sinonasal epithelioid hemangioendothelioma NCIT:C173138 MONDO:equivalentTo Sinonasal Epithelioid Hemangioendothelioma MONDO:0015523 MONDO:0855460 benign sinonasal soft tissue neoplasm NCIT:C173139 MONDO:equivalentTo Benign Sinonasal Soft Tissue Neoplasm MONDO:0044335 @@ -2260,7 +2183,6 @@ MONDO:0855461 sinonasal leiomyoma NCIT:C173140 MONDO:equivalentTo Sinonasal Leio MONDO:0855462 sinonasal hemangioma NCIT:C173142 MONDO:equivalentTo Sinonasal Hemangioma MONDO:0006500 MONDO:0855463 sinonasal schwannoma NCIT:C173143 MONDO:equivalentTo Sinonasal Schwannoma MONDO:0002546 MONDO:0855464 sinonasal neurofibroma NCIT:C173144 MONDO:equivalentTo Sinonasal Neurofibroma MONDO:0016755 -MONDO:0855465 3-methylglutaconic aciduria type 5 NCIT:C173146 MONDO:equivalentTo 3-Methylglutaconic Aciduria Type 5 MONDO:0017359 MONDO:0855466 crisponi/cold-induced sweating syndrome-1 NCIT:C173147 MONDO:equivalentTo Crisponi/Cold-Induced Sweating Syndrome-1 MONDO:0002254 MONDO:0855467 crisponi/cold-induced sweating syndrome-2 NCIT:C173148 MONDO:equivalentTo Crisponi/Cold-Induced Sweating Syndrome-2 MONDO:0002254 MONDO:0855468 unresectable anal squamous cell carcinoma NCIT:C173156 MONDO:equivalentTo Unresectable Anal Squamous Cell Carcinoma MONDO:0006082 @@ -2343,7 +2265,6 @@ MONDO:0855544 unresectable pleural epithelioid mesothelioma NCIT:C173616 MONDO:e MONDO:0855545 unresectable pleural sarcomatoid mesothelioma NCIT:C173617 MONDO:equivalentTo Unresectable Pleural Sarcomatoid Mesothelioma MONDO:0006380 MONDO:0855546 unresectable pleural biphasic mesothelioma NCIT:C173618 MONDO:equivalentTo Unresectable Pleural Biphasic Mesothelioma MONDO:0006377 MONDO:0855547 dilated cardiomyopathy-1p NCIT:C173625 MONDO:equivalentTo Dilated Cardiomyopathy-1P MONDO:0005021 -MONDO:0855548 karyomegalic interstitial nephritis NCIT:C173626 MONDO:equivalentTo Karyomegalic Interstitial Nephritis MONDO:0001085 MONDO:0855549 transfusion dependent thalassemia NCIT:C173642 MONDO:equivalentTo Transfusion Dependent Thalassemia MONDO:0000984 MONDO:0855550 transfusion dependent beta thalassemia NCIT:C173643 MONDO:equivalentTo Transfusion Dependent Beta Thalassemia MONDO:0019402 MONDO:0855551 salivary gland poorly differentiated carcinoma NCIT:C173649 MONDO:equivalentTo Salivary Gland Poorly Differentiated Carcinoma MONDO:0000521 @@ -2398,7 +2319,6 @@ MONDO:0855599 unresectable cervical adenocarcinoma NCIT:C174029 MONDO:equivalent MONDO:0855600 unresectable salivary gland carcinoma NCIT:C174034 MONDO:equivalentTo Unresectable Salivary Gland Carcinoma MONDO:0000521 MONDO:0855601 metastatic poorly differentiated thyroid gland carcinoma NCIT:C174046 MONDO:equivalentTo Metastatic Poorly Differentiated Thyroid Gland Carcinoma MONDO:0006382 MONDO:0855602 chronic intestinal cryptosporidiosis NCIT:C174107 MONDO:equivalentTo Chronic Intestinal Cryptosporidiosis MONDO:0015474 -MONDO:0855603 cryptococcal meningitis NCIT:C174113 MONDO:equivalentTo Cryptococcal Meningitis MONDO:0004796|MONDO:0005724 MONDO:0855604 lymphocytic meningitis NCIT:C174114 MONDO:equivalentTo Lymphocytic Meningitis MONDO:0021108 MONDO:0855605 alcoholic cirrhosis with ascites NCIT:C174184 MONDO:equivalentTo Alcoholic Cirrhosis with Ascites MONDO:0006644 MONDO:0855606 renal and perinephric abscess NCIT:C174186 MONDO:equivalentTo Renal and Perinephric Abscess MONDO:0005227 @@ -2408,7 +2328,6 @@ MONDO:0855609 unresectable vulvar squamous cell carcinoma NCIT:C174199 MONDO:equ MONDO:0855610 metastatic vulvar squamous cell carcinoma NCIT:C174201 MONDO:equivalentTo Metastatic Vulvar Squamous Cell Carcinoma MONDO:0044907|MONDO:0024609 MONDO:0855611 age-related macular degeneration-4 NCIT:C174215 MONDO:equivalentTo Age-Related Macular Degeneration-4 MONDO:0005150 MONDO:0855612 congenital myasthenic syndrome-4c NCIT:C174216 MONDO:equivalentTo Congenital Myasthenic Syndrome-4C MONDO:0018940 -MONDO:0855613 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome NCIT:C174217 MONDO:equivalentTo Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome MONDO:0002254 MONDO:0855614 refractory intrahepatic cholangiocarcinoma NCIT:C174247 MONDO:equivalentTo Refractory Intrahepatic Cholangiocarcinoma MONDO:0003210 MONDO:0855615 radiculoneuropathy NCIT:C174377 MONDO:equivalentTo Radiculoneuropathy MONDO:0001824 MONDO:0855616 conjunctival oncocytoma NCIT:C174388 MONDO:equivalentTo Conjunctival Oncocytoma MONDO:0010795|MONDO:0006105 @@ -2422,8 +2341,6 @@ MONDO:0855623 conjunctival junctional nevus NCIT:C174416 MONDO:equivalentTo Conj MONDO:0855624 conjunctival compound nevus NCIT:C174418 MONDO:equivalentTo Conjunctival Compound Nevus MONDO:0006172 MONDO:0855625 conjunctival subepithelial nevus NCIT:C174426 MONDO:equivalentTo Conjunctival Subepithelial Nevus MONDO:0006172 MONDO:0855626 dilated cardiomyopathy-1dd NCIT:C174435 MONDO:equivalentTo Dilated Cardiomyopathy-1DD MONDO:0005021 -MONDO:0855627 congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency NCIT:C174439 MONDO:equivalentTo Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency MONDO:0018479 -MONDO:0855628 combined oxidative phosphorylation deficiency 33 NCIT:C174440 MONDO:equivalentTo Combined Oxidative Phosphorylation Deficiency 33 MONDO:0005066 MONDO:0855629 autoinflammation, panniculitis, and dermatosis syndrome NCIT:C174441 MONDO:equivalentTo Autoinflammation, Panniculitis, and Dermatosis Syndrome MONDO:0019751 MONDO:0855630 conjunctival blue nevus NCIT:C174452 MONDO:equivalentTo Conjunctival Blue Nevus MONDO:0006172 MONDO:0855631 atypical ewing sarcoma NCIT:C174456 MONDO:equivalentTo Atypical Ewing Sarcoma MONDO:0012817 @@ -2460,8 +2377,6 @@ MONDO:0855661 unresectable thyroid gland oncocytic carcinoma NCIT:C174572 MONDO: MONDO:0855662 recurrent thyroid gland oncocytic carcinoma NCIT:C174573 MONDO:equivalentTo Recurrent Thyroid Gland Oncocytic Carcinoma MONDO:0006465 MONDO:0855663 metastatic thyroid gland oncocytic carcinoma NCIT:C174574 MONDO:equivalentTo Metastatic Thyroid Gland Oncocytic Carcinoma MONDO:0006465 MONDO:0855664 developmental and epileptic encephalopathy 26 NCIT:C175047 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 26 MONDO:0100062 -MONDO:0855665 exudative vitreoretinopathy 1 NCIT:C175048 MONDO:equivalentTo Exudative Vitreoretinopathy 1 MONDO:0005283 -MONDO:0855666 neurodegeneration with brain iron accumulation 5 NCIT:C175210 MONDO:equivalentTo Neurodegeneration with Brain Iron Accumulation 5 MONDO:0024237 MONDO:0855667 incidental gallbladder carcinoma NCIT:C175214 MONDO:equivalentTo Incidental Gallbladder Carcinoma MONDO:0003220 MONDO:0855668 metastatic malignant neoplasm in the regional lymph nodes NCIT:C175222 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Regional Lymph Nodes MONDO:0005438 MONDO:0855669 lacrimal gland oncocytoma NCIT:C175264 MONDO:equivalentTo Lacrimal Gland Oncocytoma MONDO:0010795|MONDO:0021488 @@ -2524,10 +2439,8 @@ MONDO:0855725 metastatic malignant glomus tumor NCIT:C175662 MONDO:equivalentTo MONDO:0855726 refractory malignant glomus tumor NCIT:C175664 MONDO:equivalentTo Refractory Malignant Glomus Tumor MONDO:0003340 MONDO:0855727 locally invasive desmoid-type fibromatosis NCIT:C175667 MONDO:equivalentTo Locally Invasive Desmoid-Type Fibromatosis MONDO:0007608 MONDO:0855728 refractory desmoid fibromatosis NCIT:C175670 MONDO:equivalentTo Refractory Desmoid Fibromatosis MONDO:0007608 -MONDO:0855729 joubert syndrome 17 NCIT:C175702 MONDO:equivalentTo Joubert Syndrome 17 MONDO:0018772 MONDO:0855730 ring chromosome 8 syndrome NCIT:C175705 MONDO:equivalentTo Ring Chromosome 8 Syndrome MONDO:0002254 MONDO:0855731 ring chromosome 18 syndrome NCIT:C175706 MONDO:equivalentTo Ring Chromosome 18 Syndrome MONDO:0002254 -MONDO:0855732 neurodegeneration with brain iron accumulation 4 NCIT:C175707 MONDO:equivalentTo Neurodegeneration with Brain Iron Accumulation 4 MONDO:0024237 MONDO:0855733 vitreoretinal disorder NCIT:C175883 MONDO:equivalentTo Vitreoretinal Disorder MONDO:0005328 MONDO:0855734 metastatic malignant neoplasm in the supraclavicular lymph nodes NCIT:C175934 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Supraclavicular Lymph Nodes MONDO:0005438 MONDO:0855735 advanced epithelioid mesothelioma NCIT:C175937 MONDO:equivalentTo Advanced Epithelioid Mesothelioma MONDO:0005599 @@ -2561,7 +2474,6 @@ MONDO:0855762 localized sarcoma NCIT:C176558 MONDO:equivalentTo Localized Sarcom MONDO:0855763 invasive female breast carcinoma NCIT:C176579 MONDO:equivalentTo Invasive Female Breast Carcinoma MONDO:0006256|MONDO:0004379 MONDO:0855764 female breast carcinoma in situ NCIT:C176580 MONDO:equivalentTo Female Breast Carcinoma In Situ MONDO:0004658|MONDO:0004379 MONDO:0855765 chek2-associated li-fraumeni-like syndrome NCIT:C176588 MONDO:equivalentTo CHEK2-Associated Li-Fraumeni-Like Syndrome MONDO:0015356 -MONDO:0855766 ectodermal dysplasia and immunodeficiency 1 NCIT:C176592 MONDO:equivalentTo Ectodermal Dysplasia and Immunodeficiency 1 MONDO:0010293 MONDO:0855767 congenital defects of phagocyte number, function, or both NCIT:C176593 MONDO:equivalentTo Congenital Defects of Phagocyte Number, Function, or Both MONDO:0005046 MONDO:0855768 defects in intrinsic and innate immunity NCIT:C176594 MONDO:equivalentTo Defects in Intrinsic and Innate Immunity MONDO:0005046 MONDO:0855769 immune dysregulation disorder NCIT:C176595 MONDO:equivalentTo Immune Dysregulation Disorder MONDO:0005046 @@ -2570,11 +2482,7 @@ MONDO:0855771 immunodeficiencies affecting cellular and humoral immunity - combi MONDO:0855772 immunodeficiencies affecting cellular and humoral immunity - severe combined immune deficiency NCIT:C176598 MONDO:equivalentTo Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency MONDO:0021094 MONDO:0855773 predominantly antibody deficiencies NCIT:C176599 MONDO:equivalentTo Predominantly Antibody Deficiencies MONDO:0021094 MONDO:0855774 primary immune regulatory disorder NCIT:C176600 MONDO:equivalentTo Primary Immune Regulatory Disorder MONDO:0005046 -MONDO:0855775 epidermodysplasia verruciformis, susceptibility to, 4 NCIT:C176608 MONDO:equivalentTo Epidermodysplasia Verruciformis, Susceptibility to, 4 MONDO:0021094 -MONDO:0855776 thrombocytopenia 1 NCIT:C176617 MONDO:equivalentTo Thrombocytopenia 1 MONDO:0009332 -MONDO:0855777 proteasome-associated autoinflammatory syndrome 1 NCIT:C176619 MONDO:equivalentTo Proteasome-Associated Autoinflammatory Syndrome 1 MONDO:0019751 MONDO:0855778 cdh1-associated breast carcinoma syndrome NCIT:C176628 MONDO:equivalentTo CDH1-Associated Breast Carcinoma Syndrome MONDO:0015356 -MONDO:0855779 immunodeficiency 11b with atopic dermatitis NCIT:C176630 MONDO:equivalentTo Immunodeficiency 11B with Atopic Dermatitis MONDO:0021094 MONDO:0855780 metastatic malignant small intestinal neoplasm NCIT:C176678 MONDO:equivalentTo Metastatic Malignant Small Intestinal Neoplasm MONDO:0000956 MONDO:0855781 repeat expansion disease NCIT:C176696 MONDO:equivalentTo Repeat Expansion Disease MONDO:0003847 MONDO:0855782 pik3r1-associated immunodeficiency NCIT:C176703 MONDO:equivalentTo PIK3R1-Associated Immunodeficiency MONDO:0021094 @@ -2596,14 +2504,10 @@ MONDO:0855797 interferon gamma receptor 2 deficiency NCIT:C176805 MONDO:equivale MONDO:0855798 severe combined immunodeficiency, autosomal recessive, t-cell negative, b-cell positive, nk-cell negative NCIT:C176807 MONDO:equivalentTo Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative MONDO:0015974 MONDO:0855799 lck-associated immunodeficiency NCIT:C176808 MONDO:equivalentTo LCK-Associated Immunodeficiency MONDO:0021094 MONDO:0855800 immunodeficiency, common variable, 8, with autoimmunity NCIT:C176809 MONDO:equivalentTo Immunodeficiency, Common Variable, 8, with Autoimmunity MONDO:0015517 -MONDO:0855801 purine nucleoside phosphorylase deficiency NCIT:C176817 MONDO:equivalentTo Purine Nucleoside Phosphorylase Deficiency MONDO:0005046 MONDO:0855802 warts, hypogammaglobulinemia, infections, and myelokathexis syndrome NCIT:C176819 MONDO:equivalentTo Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome MONDO:0002254 -MONDO:0855803 wiskott-aldrich syndrome 2 NCIT:C176820 MONDO:equivalentTo Wiskott-Aldrich Syndrome 2 MONDO:0015131 MONDO:0855804 immunodeficiency 48 NCIT:C176821 MONDO:equivalentTo Immunodeficiency 48 MONDO:0021094 MONDO:0855805 autosomal recessive agammaglobulinemia NCIT:C176822 MONDO:equivalentTo Autosomal Recessive Agammaglobulinemia MONDO:0016463 -MONDO:0855806 mhc class ii deficiency NCIT:C176823 MONDO:equivalentTo MHC Class II Deficiency MONDO:0015974 MONDO:0855807 interferon regulatory factor 8 deficiency NCIT:C176825 MONDO:equivalentTo Interferon Regulatory Factor 8 Deficiency MONDO:0021094 -MONDO:0855808 ectodermal dysplasia and immunodeficiency 2 NCIT:C176826 MONDO:equivalentTo Ectodermal Dysplasia and Immunodeficiency 2 MONDO:0010293 MONDO:0855809 metastatic malignant thoracic neoplasm NCIT:C176862 MONDO:equivalentTo Metastatic Malignant Thoracic Neoplasm MONDO:0024880|MONDO:0003274 MONDO:0855810 prolonged grief disorder NCIT:C176886 MONDO:equivalentTo Prolonged Grief Disorder MONDO:0002025 MONDO:0855811 psammocarcinoma NCIT:C176887 MONDO:equivalentTo Psammocarcinoma MONDO:0004970 @@ -2611,48 +2515,13 @@ MONDO:0855812 unresectable glioma NCIT:C176889 MONDO:equivalentTo Unresectable G MONDO:0855813 unresectable glioblastoma NCIT:C176890 MONDO:equivalentTo Unresectable Glioblastoma MONDO:0018177 MONDO:0855814 refractory esophageal adenocarcinoma NCIT:C176892 MONDO:equivalentTo Refractory Esophageal Adenocarcinoma MONDO:0005028 MONDO:0855815 fanconi anemia, complementation group n NCIT:C176894 MONDO:equivalentTo Fanconi Anemia, Complementation Group N MONDO:0019391 -MONDO:0855816 multiple congenital anomalies-hypotonia-seizures syndrome 1 NCIT:C176896 MONDO:equivalentTo Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 MONDO:0002254 MONDO:0855817 neuropathy, recurrent, with pressure palsies NCIT:C176898 MONDO:equivalentTo Neuropathy, Recurrent, with Pressure Palsies MONDO:0005244 MONDO:0855818 familial hypertrophic cardiomyopathy type 14 NCIT:C176899 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 14 MONDO:0024573 MONDO:0855819 nonaka myopathy NCIT:C176900 MONDO:equivalentTo Nonaka Myopathy MONDO:0005336 -MONDO:0855820 spinocerebellar ataxia type 31 NCIT:C176901 MONDO:equivalentTo Spinocerebellar Ataxia Type 31 MONDO:0000437 MONDO:0855821 atypical hemolytic uremic syndrome-4 NCIT:C176902 MONDO:equivalentTo Atypical Hemolytic Uremic Syndrome-4 MONDO:0016244 -MONDO:0855822 rett syndrome, congenital variant NCIT:C176903 MONDO:equivalentTo Rett Syndrome, Congenital Variant MONDO:0010726 -MONDO:0855823 melanoma-pancreatic cancer syndrome NCIT:C176904 MONDO:equivalentTo Melanoma-Pancreatic Cancer Syndrome MONDO:0015356 MONDO:0855824 melanoma-astrocytoma syndrome NCIT:C176905 MONDO:equivalentTo Melanoma-Astrocytoma Syndrome MONDO:0015356 MONDO:0855825 familial gastrointestinal stromal tumor NCIT:C176906 MONDO:equivalentTo Familial Gastrointestinal Stromal Tumor MONDO:0015356 -MONDO:0855826 monosomy 7 myelodysplasia and leukemia syndrome 1 NCIT:C176908 MONDO:equivalentTo Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 MONDO:0015356 -MONDO:0855827 ataxia-pancytopenia syndrome NCIT:C176909 MONDO:equivalentTo Ataxia-Pancytopenia Syndrome MONDO:0003847|MONDO:0002254 MONDO:0855828 fanconi anemia, complementation group o NCIT:C176910 MONDO:equivalentTo Fanconi Anemia, Complementation Group O MONDO:0019391 -MONDO:0855829 diamond-blackfan anemia 1 NCIT:C176911 MONDO:equivalentTo Diamond-Blackfan Anemia 1 MONDO:0015253 -MONDO:0855830 diamond-blackfan anemia 3 NCIT:C176912 MONDO:equivalentTo Diamond-Blackfan Anemia 3 MONDO:0015253 -MONDO:0855831 diamond-blackfan anemia 4 NCIT:C176913 MONDO:equivalentTo Diamond-Blackfan Anemia 4 MONDO:0015253 -MONDO:0855832 diamond-blackfan anemia 5 NCIT:C176914 MONDO:equivalentTo Diamond-Blackfan Anemia 5 MONDO:0015253 -MONDO:0855833 diamond-blackfan anemia 6 NCIT:C176915 MONDO:equivalentTo Diamond-Blackfan Anemia 6 MONDO:0015253 -MONDO:0855834 diamond-blackfan anemia 7 NCIT:C176916 MONDO:equivalentTo Diamond-Blackfan Anemia 7 MONDO:0015253 -MONDO:0855835 diamond-blackfan anemia 8 NCIT:C176917 MONDO:equivalentTo Diamond-Blackfan Anemia 8 MONDO:0015253 -MONDO:0855836 diamond-blackfan anemia 9 NCIT:C176918 MONDO:equivalentTo Diamond-Blackfan Anemia 9 MONDO:0015253 -MONDO:0855837 diamond-blackfan anemia 10 NCIT:C176919 MONDO:equivalentTo Diamond-Blackfan Anemia 10 MONDO:0015253 -MONDO:0855838 diamond-blackfan anemia 11 NCIT:C176920 MONDO:equivalentTo Diamond-Blackfan Anemia 11 MONDO:0015253 -MONDO:0855839 dyskeratosis congenita, autosomal dominant 1 NCIT:C176921 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 1 MONDO:0015780 -MONDO:0855840 dyskeratosis congenita, autosomal dominant 2 NCIT:C176922 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 2 MONDO:0015780 -MONDO:0855841 dyskeratosis congenita, autosomal dominant 3 NCIT:C176923 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 3 MONDO:0015780 -MONDO:0855842 dyskeratosis congenita, autosomal dominant 6 NCIT:C176924 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Dominant 6 MONDO:0015780 -MONDO:0855843 dyskeratosis congenita, autosomal recessive 1 NCIT:C176925 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 1 MONDO:0015780 -MONDO:0855844 dyskeratosis congenita, autosomal recessive 2 NCIT:C176926 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 2 MONDO:0015780 -MONDO:0855845 dyskeratosis congenita, autosomal recessive 3 NCIT:C176927 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 3 MONDO:0015780 -MONDO:0855846 dyskeratosis congenita, autosomal recessive 5 NCIT:C176928 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 5 MONDO:0015780 -MONDO:0855847 dyskeratosis congenita, autosomal recessive 6 NCIT:C176929 MONDO:equivalentTo Dyskeratosis Congenita, Autosomal Recessive 6 MONDO:0015780 -MONDO:0855848 noonan syndrome 2 NCIT:C176930 MONDO:equivalentTo Noonan Syndrome 2 MONDO:0018997 -MONDO:0855849 noonan syndrome 3 NCIT:C176931 MONDO:equivalentTo Noonan Syndrome 3 MONDO:0018997 -MONDO:0855850 noonan syndrome 4 NCIT:C176932 MONDO:equivalentTo Noonan Syndrome 4 MONDO:0018997 -MONDO:0855851 noonan syndrome 5 NCIT:C176933 MONDO:equivalentTo Noonan Syndrome 5 MONDO:0018997 -MONDO:0855852 noonan syndrome 6 NCIT:C176934 MONDO:equivalentTo Noonan Syndrome 6 MONDO:0018997 -MONDO:0855853 noonan syndrome 7 NCIT:C176935 MONDO:equivalentTo Noonan Syndrome 7 MONDO:0018997 -MONDO:0855854 noonan syndrome 8 NCIT:C176936 MONDO:equivalentTo Noonan Syndrome 8 MONDO:0018997 -MONDO:0855855 noonan syndrome 9 NCIT:C176937 MONDO:equivalentTo Noonan Syndrome 9 MONDO:0018997 -MONDO:0855856 noonan syndrome 10 NCIT:C176938 MONDO:equivalentTo Noonan Syndrome 10 MONDO:0018997 -MONDO:0855857 legius syndrome NCIT:C176941 MONDO:equivalentTo Legius Syndrome MONDO:0021060 MONDO:0855858 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia NCIT:C176942 MONDO:equivalentTo Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia MONDO:0003847|MONDO:0002254 MONDO:0855859 infantile myofibromatosis 1 NCIT:C176943 MONDO:equivalentTo Infantile Myofibromatosis 1 MONDO:0016824 MONDO:0855860 infantile myofibromatosis 2 NCIT:C176944 MONDO:equivalentTo Infantile Myofibromatosis 2 MONDO:0016824 @@ -2667,17 +2536,12 @@ MONDO:0855868 refractory giant cell glioblastoma NCIT:C176998 MONDO:equivalentTo MONDO:0855869 recurrent sezary syndrome NCIT:C176999 MONDO:equivalentTo Recurrent Sezary Syndrome MONDO:0017844 MONDO:0855870 refractory sezary syndrome NCIT:C177000 MONDO:equivalentTo Refractory Sezary Syndrome MONDO:0017844 MONDO:0855871 immune checkpoint inhibitor-induced dermatitis NCIT:C177001 MONDO:equivalentTo Immune Checkpoint Inhibitor-Induced Dermatitis MONDO:0002406 -MONDO:0855872 noonan syndrome 11 NCIT:C177119 MONDO:equivalentTo Noonan Syndrome 11 MONDO:0018997 -MONDO:0855873 noonan syndrome 12 NCIT:C177120 MONDO:equivalentTo Noonan Syndrome 12 MONDO:0018997 -MONDO:0855874 noonan syndrome 13 NCIT:C177121 MONDO:equivalentTo Noonan Syndrome 13 MONDO:0018997 MONDO:0855875 refractory penile carcinoma NCIT:C177150 MONDO:equivalentTo Refractory Penile Carcinoma MONDO:0006360 MONDO:0855876 refractory rectal squamous cell carcinoma NCIT:C177151 MONDO:equivalentTo Refractory Rectal Squamous Cell Carcinoma MONDO:0018515 -MONDO:0855877 temporal lobe epilepsy NCIT:C177244 MONDO:equivalentTo Temporal Lobe Epilepsy MONDO:0005384 MONDO:0855878 unresectable lung carcinoid tumor NCIT:C177246 MONDO:equivalentTo Unresectable Lung Carcinoid Tumor MONDO:0006041 MONDO:0855879 familial arrhythmogenic right ventricular dysplasia 10 NCIT:C177248 MONDO:equivalentTo Familial Arrhythmogenic Right Ventricular Dysplasia 10 MONDO:0016587 MONDO:0855880 familial hypertrophic cardiomyopathy type 6 NCIT:C177249 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 6 MONDO:0024573 MONDO:0855881 spastic paraplegia 5a NCIT:C177250 MONDO:equivalentTo Spastic Paraplegia 5A MONDO:0019064 -MONDO:0855882 behr syndrome NCIT:C177251 MONDO:equivalentTo Behr Syndrome MONDO:0002254 MONDO:0855883 plaque-like dermatofibrosarcoma protuberans NCIT:C177325 MONDO:equivalentTo Plaque-Like Dermatofibrosarcoma Protuberans MONDO:0011934 MONDO:0855884 somatic-type malignancy NCIT:C177364 MONDO:equivalentTo Somatic-Type Malignancy MONDO:0004992 MONDO:0855885 epithelioid myxofibrosarcoma NCIT:C177414 MONDO:equivalentTo Epithelioid Myxofibrosarcoma MONDO:0019202 @@ -2687,8 +2551,6 @@ MONDO:0855888 idiopathic cytopenia of undetermined significance NCIT:C177451 MON MONDO:0855889 clonal cytopenia of undetermined significance NCIT:C177452 MONDO:equivalentTo Clonal Cytopenia of Undetermined Significance MONDO:0060782 MONDO:0855890 idiopathic dysplasia of uncertain significance NCIT:C177453 MONDO:equivalentTo Idiopathic Dysplasia of Uncertain Significance MONDO:0060782 MONDO:0855891 bladder flat urothelial carcinoma NCIT:C177531 MONDO:equivalentTo Bladder Flat Urothelial Carcinoma MONDO:0005611 -MONDO:0855892 long qt syndrome 14 NCIT:C177534 MONDO:equivalentTo Long QT Syndrome 14 MONDO:0002442 -MONDO:0855893 xq25 microduplication syndrome NCIT:C177544 MONDO:equivalentTo Xq25 Microduplication Syndrome MONDO:0002254 MONDO:0855894 developmental and epileptic encephalopathy 46 NCIT:C177545 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 46 MONDO:0100062 MONDO:0855895 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency NCIT:C177546 MONDO:equivalentTo Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency MONDO:0018940 MONDO:0855896 cutaneous arteriovenous malformation/hemangioma NCIT:C177548 MONDO:equivalentTo Cutaneous Arteriovenous Malformation/Hemangioma MONDO:0001256 @@ -2708,21 +2570,17 @@ MONDO:0855909 who grade 1 glioma NCIT:C177797 MONDO:equivalentTo WHO Grade 1 Gli MONDO:0855910 metastatic lung large cell neuroendocrine carcinoma NCIT:C177799 MONDO:equivalentTo Metastatic Lung Large Cell Neuroendocrine Carcinoma MONDO:0003960 MONDO:0855911 poorly differentiated chordoma NCIT:C177898 MONDO:equivalentTo Poorly Differentiated Chordoma MONDO:0008978 MONDO:0855912 avascular necrosis of the joint NCIT:C178082 MONDO:equivalentTo Avascular Necrosis of the Joint MONDO:0018373 -MONDO:0855913 noonan syndrome-like disorder with loose anagen hair NCIT:C178129 MONDO:equivalentTo Noonan Syndrome-Like Disorder with Loose Anagen Hair MONDO:0021060 MONDO:0855914 ebv-associated smooth muscle tumor NCIT:C178217 MONDO:equivalentTo EBV-Associated Smooth Muscle Tumor MONDO:0006975 MONDO:0855915 pleomorphic leiomyosarcoma NCIT:C178220 MONDO:equivalentTo Pleomorphic Leiomyosarcoma MONDO:0005058 MONDO:0855916 epithelioid schwannoma NCIT:C178245 MONDO:equivalentTo Epithelioid Schwannoma MONDO:0002546 MONDO:0855917 atypical neurofibromatous neoplasm of uncertain biologic potential NCIT:C178255 MONDO:equivalentTo Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential MONDO:0002547 MONDO:0855918 unresectable myxofibrosarcoma NCIT:C178372 MONDO:equivalentTo Unresectable Myxofibrosarcoma MONDO:0019202 MONDO:0855919 cdc73-related neoplastic syndrome NCIT:C178382 MONDO:equivalentTo CDC73-Related Neoplastic Syndrome MONDO:0015356 -MONDO:0855920 rhabdoid tumor predisposition syndrome 1 NCIT:C178393 MONDO:equivalentTo Rhabdoid Tumor Predisposition Syndrome 1 MONDO:0016473 -MONDO:0855921 rhabdoid tumor predisposition syndrome 2 NCIT:C178394 MONDO:equivalentTo Rhabdoid Tumor Predisposition Syndrome 2 MONDO:0016473 MONDO:0855922 amyotrophic lateral sclerosis 23 NCIT:C178411 MONDO:equivalentTo Amyotrophic Lateral Sclerosis 23 MONDO:0004976 MONDO:0855923 bartter syndrome, type 1 NCIT:C178412 MONDO:equivalentTo Bartter Syndrome, Type 1 MONDO:0015231 MONDO:0855924 episodic kinesigenic dyskinesia-1 NCIT:C178413 MONDO:equivalentTo Episodic Kinesigenic Dyskinesia-1 MONDO:0003441 MONDO:0855925 arrhythmia-induced cardiomyopathy NCIT:C178417 MONDO:equivalentTo Arrhythmia-Induced Cardiomyopathy MONDO:0004994 MONDO:0855926 mucosal melanoma of the female genital tract NCIT:C178437 MONDO:equivalentTo Mucosal Melanoma of the Female Genital Tract MONDO:0001416 -MONDO:0855927 ovarian melanoma NCIT:C178441 MONDO:equivalentTo Ovarian Melanoma MONDO:0006320|MONDO:0008170 MONDO:0855928 mucosal melanoma of the urinary system NCIT:C178453 MONDO:equivalentTo Mucosal Melanoma of the Urinary System MONDO:0006295 MONDO:0855929 round cell sarcoma with ewsr1-non-ets fusion NCIT:C178459 MONDO:equivalentTo Round Cell Sarcoma with EWSR1-non-ETS Fusion MONDO:0006974 MONDO:0855930 sarcoma with bcor genetic alterations NCIT:C178465 MONDO:equivalentTo Sarcoma with BCOR Genetic Alterations MONDO:0006974 @@ -2749,8 +2607,6 @@ MONDO:0855950 refractory ovarian clear cell adenocarcinoma NCIT:C178680 MONDO:eq MONDO:0855951 refractory ovarian mucinous adenocarcinoma NCIT:C178681 MONDO:equivalentTo Refractory Ovarian Mucinous Adenocarcinoma MONDO:0005601 MONDO:0855952 refractory ovarian transitional cell carcinoma NCIT:C178682 MONDO:equivalentTo Refractory Ovarian Transitional Cell Carcinoma MONDO:0006343 MONDO:0855953 refractory ovarian undifferentiated carcinoma NCIT:C178683 MONDO:equivalentTo Refractory Ovarian Undifferentiated Carcinoma MONDO:0006477 -MONDO:0855954 rothmund-thomson syndrome type 1 NCIT:C178826 MONDO:equivalentTo Rothmund-Thomson Syndrome Type 1 MONDO:0010002 -MONDO:0855955 rothmund-thomson syndrome type 2 NCIT:C178827 MONDO:equivalentTo Rothmund-Thomson Syndrome Type 2 MONDO:0010002 MONDO:0855956 current cytomegalovirus infection NCIT:C178901 MONDO:equivalentTo Current Cytomegalovirus Infection MONDO:0005132 MONDO:0855957 current ebv infection NCIT:C178902 MONDO:equivalentTo Current EBV Infection MONDO:0005111 MONDO:0855958 current hepatitis b infection NCIT:C178903 MONDO:equivalentTo Current Hepatitis B Infection MONDO:0005344 @@ -2781,7 +2637,6 @@ MONDO:0855982 myxoid glioneuronal tumor NCIT:C179229 MONDO:equivalentTo Myxoid G MONDO:0855983 borderline ovarian seromucinous tumor NCIT:C179259 MONDO:equivalentTo Borderline Ovarian Seromucinous Tumor MONDO:0016093|MONDO:0003811 MONDO:0855984 familial hypertrophic cardiomyopathy type 26 NCIT:C179295 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 26 MONDO:0024573 MONDO:0855985 developmental and epileptic encephalopathy 76 NCIT:C179296 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 76 MONDO:0100062 -MONDO:0855986 bietti crystalline corneoretinal dystrophy NCIT:C179299 MONDO:equivalentTo Bietti Crystalline Corneoretinal Dystrophy MONDO:0019118 MONDO:0855987 mesonephric-like adenocarcinoma NCIT:C179320 MONDO:equivalentTo Mesonephric-Like Adenocarcinoma MONDO:0001416|MONDO:0004970 MONDO:0855988 ovarian mesonephric-like adenocarcinoma NCIT:C179321 MONDO:equivalentTo Ovarian Mesonephric-Like Adenocarcinoma MONDO:0002752 MONDO:0855989 endometrial mesonephric-like adenocarcinoma NCIT:C179322 MONDO:equivalentTo Endometrial Mesonephric-Like Adenocarcinoma MONDO:0005461 @@ -2800,22 +2655,16 @@ MONDO:0856001 ovarian leydig cell hyperplasia NCIT:C179551 MONDO:equivalentTo Ov MONDO:0856002 her2-low breast carcinoma NCIT:C179553 MONDO:equivalentTo HER2-Low Breast Carcinoma MONDO:0004988 MONDO:0856003 peritoneal calcifying fibrous tumor NCIT:C179560 MONDO:equivalentTo Peritoneal Calcifying Fibrous Tumor MONDO:0000650|MONDO:0006121 MONDO:0856004 glucose-6-phosphatase 3 deficiency NCIT:C179570 MONDO:equivalentTo Glucose-6-Phosphatase 3 Deficiency MONDO:0019052 -MONDO:0856005 multiple organ dysfunction syndrome NCIT:C179648 MONDO:equivalentTo Multiple Organ Dysfunction Syndrome MONDO:0002254 -MONDO:0856006 capillary malformation-arteriovenous malformation syndrome NCIT:C179668 MONDO:equivalentTo Capillary Malformation-Arteriovenous Malformation Syndrome MONDO:0021060 MONDO:0856007 ring chromosome 22 syndrome NCIT:C179702 MONDO:equivalentTo Ring Chromosome 22 Syndrome MONDO:0002254 MONDO:0856008 ring chromosome 13 syndrome NCIT:C179703 MONDO:equivalentTo Ring Chromosome 13 Syndrome MONDO:0002254 MONDO:0856009 intermediate epidermolysis bullosa simplex with cardiomyopathy NCIT:C179709 MONDO:equivalentTo Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy MONDO:0002254 MONDO:0856010 myoclonic epilepsy of unverricht and lundborg NCIT:C179710 MONDO:equivalentTo Myoclonic Epilepsy of Unverricht and Lundborg MONDO:0020074 -MONDO:0856011 spinocerebellar ataxia type 17 NCIT:C179861 MONDO:equivalentTo Spinocerebellar Ataxia Type 17 MONDO:0000437 MONDO:0856012 spastic paraplegia 50 NCIT:C179863 MONDO:equivalentTo Spastic Paraplegia 50 MONDO:0019064 MONDO:0856013 developmental and epileptic encephalopathy 1 NCIT:C179866 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 1 MONDO:0100062 -MONDO:0856014 46,xx sex reversal 1 NCIT:C179867 MONDO:equivalentTo 46,XX Sex Reversal 1 MONDO:0100249 -MONDO:0856015 cardiac, facial, and digital anomalies with developmental delay NCIT:C179868 MONDO:equivalentTo Cardiac, Facial, and Digital Anomalies with Developmental Delay MONDO:0002254 MONDO:0856016 basal ganglia neoplasm NCIT:C179882 MONDO:equivalentTo Basal Ganglia Neoplasm MONDO:0021374 MONDO:0856017 cerebellar peduncle neoplasm NCIT:C179883 MONDO:equivalentTo Cerebellar Peduncle Neoplasm MONDO:0002913 MONDO:0856018 corpus callosum neoplasm NCIT:C179884 MONDO:equivalentTo Corpus Callosum Neoplasm MONDO:0021374 MONDO:0856019 oral cavity carcinoma cuniculatum NCIT:C179894 MONDO:equivalentTo Oral Cavity Carcinoma Cuniculatum MONDO:0021538 -MONDO:0856020 pten hamartoma tumor syndrome NCIT:C179915 MONDO:equivalentTo PTEN Hamartoma Tumor Syndrome MONDO:0015356 MONDO:0856021 uterine ligament leiomyoma NCIT:C179923 MONDO:equivalentTo Uterine Ligament Leiomyoma MONDO:0001572|MONDO:0020582 MONDO:0856022 uterine ligament adenomyoma NCIT:C179925 MONDO:equivalentTo Uterine Ligament Adenomyoma MONDO:0005635|MONDO:0020582 MONDO:0856023 broad ligament leiomyosarcoma NCIT:C179926 MONDO:equivalentTo Broad Ligament Leiomyosarcoma MONDO:0005058 @@ -2825,7 +2674,7 @@ MONDO:0856026 broad ligament neoplasm NCIT:C179931 MONDO:equivalentTo Broad Liga MONDO:0856027 microsatellite stable ovarian carcinoma NCIT:C180332 MONDO:equivalentTo Microsatellite Stable Ovarian Carcinoma MONDO:0005140 MONDO:0856028 microsatellite stable endometrial carcinoma NCIT:C180335 MONDO:equivalentTo Microsatellite Stable Endometrial Carcinoma MONDO:0002447 MONDO:0856029 early primary cutaneous t-cell non-hodgkin lymphoma NCIT:C180374 MONDO:equivalentTo Early Primary Cutaneous T-Cell Non-Hodgkin Lymphoma MONDO:0000607 -MONDO:0856030 polymorphous low grade neuroepithelial tumor of the young NCIT:C180378 MONDO:equivalentTo Polymorphous Low Grade Neuroepithelial Tumor of the Young MONDO:0016729 +MONDO:0856030 polymorphous low grade neuroepithelial tumor of the young NCIT:C180378 MONDO:equivalentTo Polymorphous Low Grade Neuroepithelial Tumor of the Young MONDO:0016729|MONDO:0021632 MONDO:0856031 refractory thyroid gland medullary carcinoma NCIT:C180404 MONDO:equivalentTo Refractory Thyroid Gland Medullary Carcinoma MONDO:0015277 MONDO:0856032 unresectable colon carcinoma NCIT:C180406 MONDO:equivalentTo Unresectable Colon Carcinoma MONDO:0002032 MONDO:0856033 tectal glioma NCIT:C180407 MONDO:equivalentTo Tectal Glioma MONDO:0021042 @@ -2841,7 +2690,6 @@ MONDO:0856042 endometrial mucinous adenocarcinoma, gastric-type NCIT:C180537 MON MONDO:0856043 uterine corpus inflammatory myofibroblastic tumor NCIT:C180545 MONDO:equivalentTo Uterine Corpus Inflammatory Myofibroblastic Tumor MONDO:0015798 MONDO:0856044 uterine corpus central primitive neuroectodermal tumor NCIT:C180546 MONDO:equivalentTo Uterine Corpus Central Primitive Neuroectodermal Tumor MONDO:0005210|MONDO:0006974 MONDO:0856045 thrombotic disorder NCIT:C180553 MONDO:equivalentTo Thrombotic Disorder MONDO:0004995 -MONDO:0856046 apraxia NCIT:C180557 MONDO:equivalentTo Apraxia MONDO:0005395 MONDO:0856047 muscle invasive bladder urothelial carcinoma NCIT:C180604 MONDO:equivalentTo Muscle Invasive Bladder Urothelial Carcinoma MONDO:0003890 MONDO:0856048 high grade urothelial carcinoma NCIT:C180606 MONDO:equivalentTo High Grade Urothelial Carcinoma MONDO:0040679 MONDO:0856049 high grade renal pelvis urothelial carcinoma NCIT:C180607 MONDO:equivalentTo High Grade Renal Pelvis Urothelial Carcinoma MONDO:0005221 @@ -2871,8 +2719,7 @@ MONDO:0856072 minor salivary gland intraductal papillary neoplasm NCIT:C180880 M MONDO:0856073 infantile myofibroma NCIT:C180887 MONDO:equivalentTo Infantile Myofibroma MONDO:0006312 MONDO:0856074 adult myofibroma NCIT:C180888 MONDO:equivalentTo Adult Myofibroma MONDO:0006312 MONDO:0856075 refractory acute myeloid leukemia with myelodysplasia-related changes NCIT:C180897 MONDO:equivalentTo Refractory Acute Myeloid Leukemia with Myelodysplasia-Related Changes MONDO:0100409 -MONDO:0856076 vaginal squamous cell carcinoma NCIT:C180915 MONDO:equivalentTo Vaginal Squamous Cell Carcinoma MONDO:0001806|MONDO:0015867|MONDO:0005096 -MONDO:0856077 human papillomavirus-related vaginal squamous cell carcinoma NCIT:C180917 MONDO:equivalentTo Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma MONDO:0020657 +MONDO:0856077 human papillomavirus-related vaginal squamous cell carcinoma NCIT:C180917 MONDO:equivalentTo Human Papillomavirus-Related Vaginal Squamous Cell Carcinoma MONDO:0020657|MONDO:0006490 MONDO:0856078 advanced vaginal squamous cell carcinoma, not otherwise specified NCIT:C180921 MONDO:equivalentTo Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified MONDO:0006490 MONDO:0856079 advanced bronchogenic carcinoma NCIT:C180922 MONDO:equivalentTo Advanced Bronchogenic Carcinoma MONDO:0002806 MONDO:0856080 metastatic her2-positive breast carcinoma NCIT:C180924 MONDO:equivalentTo Metastatic HER2-Positive Breast Carcinoma MONDO:0006244 @@ -2890,15 +2737,12 @@ MONDO:0856091 cranial nerve viii palsy NCIT:C180996 MONDO:equivalentTo Cranial N MONDO:0856092 cranial nerve x palsy NCIT:C180997 MONDO:equivalentTo Cranial Nerve X Palsy MONDO:0001535|MONDO:0002782 MONDO:0856093 cranial nerve xi palsy NCIT:C180998 MONDO:equivalentTo Cranial Nerve XI Palsy MONDO:0002636|MONDO:0002782 MONDO:0856094 cranial nerve xii palsy NCIT:C180999 MONDO:equivalentTo Cranial Nerve XII Palsy MONDO:0001810|MONDO:0002782 -MONDO:0856095 autosomal recessive limb-girdle muscular dystrophy type 2y NCIT:C181000 MONDO:equivalentTo Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y MONDO:0016971 -MONDO:0856096 joubert syndrome 9 NCIT:C181002 MONDO:equivalentTo Joubert Syndrome 9 MONDO:0018772 -MONDO:0856097 metastatic vaginal squamous cell carcinoma NCIT:C181031 MONDO:equivalentTo Metastatic Vaginal Squamous Cell Carcinoma MONDO:0044907 +MONDO:0856097 metastatic vaginal squamous cell carcinoma NCIT:C181031 MONDO:equivalentTo Metastatic Vaginal Squamous Cell Carcinoma MONDO:0044907|MONDO:0006490 MONDO:0856098 refractory cervical squamous cell carcinoma NCIT:C181034 MONDO:equivalentTo Refractory Cervical Squamous Cell Carcinoma MONDO:0006143 MONDO:0856099 refractory cervical adenocarcinoma NCIT:C181036 MONDO:equivalentTo Refractory Cervical Adenocarcinoma MONDO:0005153 MONDO:0856100 hybrid salivary gland tumor NCIT:C181078 MONDO:equivalentTo Hybrid Salivary Gland Tumor MONDO:0021043|MONDO:0021357 MONDO:0856101 hybrid salivary gland carcinoma NCIT:C181079 MONDO:equivalentTo Hybrid Salivary Gland Carcinoma MONDO:0000521 MONDO:0856102 jejunal carcinoma NCIT:C181157 MONDO:equivalentTo Jejunal Carcinoma MONDO:0005522 -MONDO:0856103 jejunal adenocarcinoma NCIT:C181158 MONDO:equivalentTo Jejunal Adenocarcinoma MONDO:0003198 MONDO:0856104 eyelid basal cell carcinoma NCIT:C181159 MONDO:equivalentTo Eyelid Basal Cell Carcinoma MONDO:0003876|MONDO:0005341 MONDO:0856105 tongue mucoepidermoid carcinoma NCIT:C181160 MONDO:equivalentTo Tongue Mucoepidermoid Carcinoma MONDO:0044964 MONDO:0856106 major salivary gland squamous cell carcinoma NCIT:C181161 MONDO:equivalentTo Major Salivary Gland Squamous Cell Carcinoma MONDO:0044740|MONDO:0006284 @@ -2910,7 +2754,6 @@ MONDO:0856111 lung hodgkin lymphoma NCIT:C181205 MONDO:equivalentTo Lung Hodgkin MONDO:0856112 primary bone hodgkin lymphoma NCIT:C181207 MONDO:equivalentTo Primary Bone Hodgkin Lymphoma MONDO:0004952|MONDO:0017814 MONDO:0856113 thyroid gland hodgkin lymphoma NCIT:C181209 MONDO:equivalentTo Thyroid Gland Hodgkin Lymphoma MONDO:0004952|MONDO:0019962 MONDO:0856114 cervical cancer by ajcc v9 stage NCIT:C181562 MONDO:equivalentTo Cervical Cancer by AJCC v9 Stage MONDO:0005131 -MONDO:0856115 monoclonal mast cell activation syndrome NCIT:C181652 MONDO:equivalentTo Monoclonal Mast Cell Activation Syndrome MONDO:0005046|MONDO:0002254 MONDO:0856116 spastic paraplegia 7 NCIT:C181657 MONDO:equivalentTo Spastic Paraplegia 7 MONDO:0019064 MONDO:0856117 epiglottic squamous cell carcinoma NCIT:C181714 MONDO:equivalentTo Epiglottic Squamous Cell Carcinoma MONDO:0004293|MONDO:0004473 MONDO:0856118 coronavirus infection NCIT:C181757 MONDO:equivalentTo Coronavirus Infection MONDO:0005108 @@ -2924,7 +2767,6 @@ MONDO:0856125 human papillomavirus-independent vulvar squamous cell carcinoma NC MONDO:0856126 vulvar phyllodes tumor NCIT:C181905 MONDO:equivalentTo Vulvar Phyllodes Tumor MONDO:0021049 MONDO:0856127 benign vulvar phyllodes tumor NCIT:C181906 MONDO:equivalentTo Benign Vulvar Phyllodes Tumor MONDO:0037002|MONDO:0000643 MONDO:0856128 endometrial mucosa-associated lymphoid tissue lymphoma NCIT:C181910 MONDO:equivalentTo Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma MONDO:0007650|MONDO:0011962 -MONDO:0856129 vexas syndrome NCIT:C181924 MONDO:equivalentTo VEXAS Syndrome MONDO:0002254 MONDO:0856130 vulvar lipoblastoma-like tumor NCIT:C181925 MONDO:equivalentTo Vulvar Lipoblastoma-Like Tumor MONDO:0044983|MONDO:0044335 MONDO:0856131 vulvar prepubertal fibroma NCIT:C181926 MONDO:equivalentTo Vulvar Prepubertal Fibroma MONDO:0021079 MONDO:0856132 vulvar solitary fibrous tumor NCIT:C181935 MONDO:equivalentTo Vulvar Solitary Fibrous Tumor MONDO:0016238 @@ -2948,7 +2790,6 @@ MONDO:0856149 metastatic squamous cell carcinoma of the penis NCIT:C182111 MONDO MONDO:0856150 methicillin-sensitive staphylococcus aureus infection NCIT:C182126 MONDO:equivalentTo Methicillin-Sensitive Staphylococcus aureus Infection MONDO:0005545 MONDO:0856151 metastatic conjunctival melanoma NCIT:C182127 MONDO:equivalentTo Metastatic Conjunctival Melanoma MONDO:0002096 MONDO:0856152 diffuse midline glioma NCIT:C182151 MONDO:equivalentTo Diffuse Midline Glioma MONDO:0100342 -MONDO:0856153 dysgraphia NCIT:C182452 MONDO:equivalentTo Dysgraphia MONDO:0001276 MONDO:0856154 bronchiolar adenoma/ciliated muconodular papillary tumor NCIT:C183045 MONDO:equivalentTo Bronchiolar Adenoma/Ciliated Muconodular Papillary Tumor MONDO:0003422 MONDO:0856155 invasive lung non-mucinous adenocarcinoma NCIT:C183109 MONDO:equivalentTo Invasive Lung Non-Mucinous Adenocarcinoma MONDO:0040677|MONDO:0005061 MONDO:0856156 thoracic smarca4-deficient undifferentiated tumor NCIT:C183115 MONDO:equivalentTo Thoracic SMARCA4-Deficient Undifferentiated Tumor MONDO:0003274 @@ -2972,7 +2813,6 @@ MONDO:0856173 metastatic malignant abdominal neoplasm NCIT:C183304 MONDO:equival MONDO:0856174 benign familial infantile seizures NCIT:C183308 MONDO:equivalentTo Benign Familial Infantile Seizures MONDO:0016027 MONDO:0856175 familial restrictive cardiomyopathy 5 NCIT:C183309 MONDO:equivalentTo Familial Restrictive Cardiomyopathy 5 MONDO:0005201 MONDO:0856176 hypomyelinating leukodystrophy-6 NCIT:C183310 MONDO:equivalentTo Hypomyelinating Leukodystrophy-6 MONDO:0019046 -MONDO:0856177 moyamoya disease 2 NCIT:C183312 MONDO:equivalentTo Moyamoya Disease 2 MONDO:0016820 MONDO:0856178 thymic carcinoma with adenoid cystic carcinoma-like features NCIT:C183313 MONDO:equivalentTo Thymic Carcinoma with Adenoid Cystic Carcinoma-Like Features MONDO:0006451 MONDO:0856179 thymic enteric-type adenocarcinoma NCIT:C183314 MONDO:equivalentTo Thymic Enteric-Type Adenocarcinoma MONDO:0003209|MONDO:0006254 MONDO:0856180 thymic adenocarcinoma, not otherwise specified NCIT:C183315 MONDO:equivalentTo Thymic Adenocarcinoma, Not Otherwise Specified MONDO:0003209 @@ -2983,12 +2823,8 @@ MONDO:0856184 methylmalonic aciduria and homocystinuria, cbld type NCIT:C183524 MONDO:0856185 methylmalonic aciduria and homocystinuria, cblf type NCIT:C183525 MONDO:equivalentTo Methylmalonic Aciduria and Homocystinuria, cblF Type MONDO:0002012 MONDO:0856186 methylmalonic aciduria and homocystinuria, cblj type NCIT:C183526 MONDO:equivalentTo Methylmalonic Aciduria and Homocystinuria, cblJ Type MONDO:0002012 MONDO:0856187 methylmalonic acidemia, tcblr type NCIT:C183527 MONDO:equivalentTo Methylmalonic Acidemia, TcblR Type MONDO:0002012 -MONDO:0856188 brown-vialetto-van laere syndrome 2 NCIT:C183529 MONDO:equivalentTo Brown-Vialetto-Van Laere Syndrome 2 MONDO:0008890|MONDO:0002254 MONDO:0856189 mitochondrial dna depletion syndrome-9 NCIT:C183531 MONDO:equivalentTo Mitochondrial DNA Depletion Syndrome-9 MONDO:0002012 -MONDO:0856190 actinic cheilitis NCIT:C183562 MONDO:equivalentTo Actinic Cheilitis MONDO:0002102 MONDO:0856191 salivary gland adenoma NCIT:C184295 MONDO:equivalentTo Salivary Gland Adenoma MONDO:0021460|MONDO:0004972 -MONDO:0856192 recurrent acute pancreatitis NCIT:C184324 MONDO:equivalentTo Recurrent Acute Pancreatitis MONDO:0006515 -MONDO:0856193 bronchiolitis obliterans syndrome NCIT:C184957 MONDO:equivalentTo Bronchiolitis Obliterans Syndrome MONDO:0015265 MONDO:0856194 familial hypertrophic cardiomyopathy type 7 NCIT:C184989 MONDO:equivalentTo Familial Hypertrophic Cardiomyopathy Type 7 MONDO:0024573 MONDO:0856195 parkinson disease 6, early onset NCIT:C184990 MONDO:equivalentTo Parkinson Disease 6, Early Onset MONDO:0005180 MONDO:0856196 waisman syndrome NCIT:C184991 MONDO:equivalentTo Waisman Syndrome MONDO:0002254 @@ -3009,7 +2845,6 @@ MONDO:0856210 developmental and epileptic encephalopathy 31 NCIT:C185237 MONDO:e MONDO:0856211 combined oxidative phosphorylation deficiency 27 NCIT:C185238 MONDO:equivalentTo Combined Oxidative Phosphorylation Deficiency 27 MONDO:0005066 MONDO:0856212 refractory vulvar squamous cell carcinoma NCIT:C185304 MONDO:equivalentTo Refractory Vulvar Squamous Cell Carcinoma MONDO:0024609 MONDO:0856213 diffuse hemispheric glioma, h3 g34-mutant NCIT:C185371 MONDO:equivalentTo Diffuse Hemispheric Glioma, H3 G34-Mutant MONDO:0002731 -MONDO:0856214 49,xxxxy syndrome NCIT:C185635 MONDO:equivalentTo 49,XXXXY Syndrome MONDO:0002254 MONDO:0856215 ring chromosome 14 syndrome NCIT:C185638 MONDO:equivalentTo Ring Chromosome 14 Syndrome MONDO:0002254 MONDO:0856216 extranodal lymphoma NCIT:C185752 MONDO:equivalentTo Extranodal Lymphoma MONDO:0017207 MONDO:0856217 extranodal non-hodgkin lymphoma NCIT:C185753 MONDO:equivalentTo Extranodal Non-Hodgkin Lymphoma MONDO:0018908 @@ -3020,7 +2855,6 @@ MONDO:0856221 unresectable ovarian endometrioid adenocarcinoma NCIT:C186273 MOND MONDO:0856222 unresectable fallopian tube endometrioid adenocarcinoma NCIT:C186274 MONDO:equivalentTo Unresectable Fallopian Tube Endometrioid Adenocarcinoma MONDO:0003666 MONDO:0856223 ring chromosome 21 syndrome NCIT:C186278 MONDO:equivalentTo Ring Chromosome 21 Syndrome MONDO:0002254 MONDO:0856224 unresectable her2-positive breast carcinoma NCIT:C186284 MONDO:equivalentTo Unresectable HER2-Positive Breast Carcinoma MONDO:0006244 -MONDO:0856225 keipert syndrome NCIT:C186306 MONDO:equivalentTo Keipert Syndrome MONDO:0002254 MONDO:0856226 multiorgan venous and lymphatic defect syndrome NCIT:C186307 MONDO:equivalentTo Multiorgan Venous and Lymphatic Defect Syndrome MONDO:0002254 MONDO:0856227 supratentorial ependymoma zfta fusion-positive NCIT:C186350 MONDO:equivalentTo Supratentorial Ependymoma ZFTA Fusion-Positive MONDO:0002071 MONDO:0856228 chronic pulmonary aspergillosis NCIT:C186432 MONDO:equivalentTo Chronic Pulmonary Aspergillosis MONDO:0005657 @@ -3035,7 +2869,7 @@ MONDO:0856236 central nervous system dedifferentiated solitary fibrous tumor NCI MONDO:0856237 central nervous system cic-rearranged sarcoma NCIT:C186607 MONDO:equivalentTo Central Nervous System CIC-Rearranged Sarcoma MONDO:0002217 MONDO:0856238 primary intracranial sarcoma, dicer1-mutant NCIT:C186610 MONDO:equivalentTo Primary Intracranial Sarcoma, DICER1-Mutant MONDO:0002216 MONDO:0856239 central nervous system ewing sarcoma NCIT:C186611 MONDO:equivalentTo Central Nervous System Ewing Sarcoma MONDO:0018270|MONDO:0002217|MONDO:0016713 -MONDO:0856240 intracranial mesenchymal tumor, fet-creb fusion-positive NCIT:C186614 MONDO:equivalentTo Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive MONDO:0003244 +MONDO:0856240 intracranial mesenchymal tumor, fet-creb fusion-positive NCIT:C186614 MONDO:equivalentTo Intracranial Mesenchymal Tumor, FET-CREB Fusion-Positive MONDO:0003244|MONDO:0021632 MONDO:0856241 cervical cancer by figo stage 2009 NCIT:C186619 MONDO:equivalentTo Cervical Cancer by FIGO Stage 2009 MONDO:0005131 MONDO:0856242 immunodeficiency-related central nervous system lymphoma NCIT:C186658 MONDO:equivalentTo Immunodeficiency-Related Central Nervous System Lymphoma MONDO:0002571 MONDO:0856243 aids-related primary diffuse large b-cell lymphoma of the central nervous system NCIT:C186660 MONDO:equivalentTo AIDS-Related Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System MONDO:0006078|MONDO:0017596 @@ -3079,7 +2913,6 @@ MONDO:0856280 dilated cardiomyopathy-1w NCIT:C187983 MONDO:equivalentTo Dilated MONDO:0856281 glomerulopathy with fibronectin deposits-2 NCIT:C187984 MONDO:equivalentTo Glomerulopathy with Fibronectin Deposits-2 MONDO:0019722 MONDO:0856282 combined oxidative phosphorylation deficiency 23 NCIT:C187986 MONDO:equivalentTo Combined Oxidative Phosphorylation Deficiency 23 MONDO:0005066 MONDO:0856283 immunodeficiency 14a, autosomal dominant NCIT:C187988 MONDO:equivalentTo Immunodeficiency 14A, Autosomal Dominant MONDO:0021094 -MONDO:0856284 meester-loeys syndrome NCIT:C187989 MONDO:equivalentTo Meester-Loeys Syndrome MONDO:0002254 MONDO:0856285 thyroid gland secretory carcinoma NCIT:C187994 MONDO:equivalentTo Thyroid Gland Secretory Carcinoma MONDO:0024622 MONDO:0856286 thyroblastoma NCIT:C187995 MONDO:equivalentTo Thyroblastoma MONDO:0002108|MONDO:0005564 MONDO:0856287 teratoma with endocrine differentiation NCIT:C188013 MONDO:equivalentTo Teratoma with Endocrine Differentiation MONDO:0002601 @@ -3118,7 +2951,6 @@ MONDO:0856319 developmental and epileptic encephalopathy 13 NCIT:C188139 MONDO:e MONDO:0856320 developmental and epileptic encephalopathy 14 NCIT:C188141 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 14 MONDO:0100062 MONDO:0856321 developmental and epileptic encephalopathy 42 NCIT:C188142 MONDO:equivalentTo Developmental and Epileptic Encephalopathy 42 MONDO:0100062 MONDO:0856322 loeys-dietz syndrome type 5 NCIT:C188143 MONDO:equivalentTo Loeys-Dietz Syndrome Type 5 MONDO:0018954 -MONDO:0856323 robertsonian translocation down syndrome NCIT:C188150 MONDO:equivalentTo Robertsonian Translocation Down Syndrome MONDO:0008608 MONDO:0856324 adrenal cortical oncocytic carcinoma NCIT:C188181 MONDO:equivalentTo Adrenal Cortical Oncocytic Carcinoma MONDO:0006639 MONDO:0856325 adrenal cortical myxoid carcinoma NCIT:C188182 MONDO:equivalentTo Adrenal Cortical Myxoid Carcinoma MONDO:0006639 MONDO:0856326 adrenal cortical high grade carcinoma NCIT:C188183 MONDO:equivalentTo Adrenal Cortical High Grade Carcinoma MONDO:0006639 @@ -3127,8 +2959,6 @@ MONDO:0856328 metastatic uterine corpus leiomyosarcoma NCIT:C188207 MONDO:equiva MONDO:0856329 unresectable uterine corpus leiomyosarcoma NCIT:C188209 MONDO:equivalentTo Unresectable Uterine Corpus Leiomyosarcoma MONDO:0016262 MONDO:0856330 schwannoma of the seventh cranial nerve NCIT:C188213 MONDO:equivalentTo Schwannoma of the Seventh Cranial Nerve MONDO:0002101|MONDO:0002546 MONDO:0856331 neuronal ceroid lipofuscinosis type 11 NCIT:C188214 MONDO:equivalentTo Neuronal Ceroid Lipofuscinosis Type 11 MONDO:0016295 -MONDO:0856332 ogden syndrome NCIT:C188215 MONDO:equivalentTo Ogden Syndrome MONDO:0002254 -MONDO:0856333 cardiospondylocarpofacial syndrome NCIT:C188216 MONDO:equivalentTo Cardiospondylocarpofacial Syndrome MONDO:0002254 MONDO:0856334 pancreatic mixed ductal-neuroendocrine neoplasm NCIT:C188217 MONDO:equivalentTo Pancreatic Mixed Ductal-Neuroendocrine Neoplasm MONDO:0009831 MONDO:0856335 neuroendocrine tumor NCIT:C188218 MONDO:equivalentTo Neuroendocrine Tumor MONDO:0019496 MONDO:0856336 head and neck neuroendocrine neoplasm NCIT:C188222 MONDO:equivalentTo Head and Neck Neuroendocrine Neoplasm MONDO:0019496|MONDO:0005586 @@ -3158,7 +2988,6 @@ MONDO:0856359 ataxia NCIT:C26702 MONDO:equivalentTo Ataxia MONDO:0005395 MONDO:0856360 somnolence NCIT:C26754 MONDO:equivalentTo Somnolence MONDO:0100081 MONDO:0856361 acute infective polyneuritis NCIT:C26790 MONDO:equivalentTo Acute Infective Polyneuritis MONDO:0021718 MONDO:0856362 radiation-related leukemia NCIT:C26814 MONDO:equivalentTo Radiation-Related Leukemia MONDO:0005059 -MONDO:0856363 retinal disorder NCIT:C26875 MONDO:equivalentTo Retinal Disorder MONDO:0005328 MONDO:0856364 sinus tachycardia NCIT:C26889 MONDO:equivalentTo Sinus Tachycardia MONDO:0007263 MONDO:0856365 bone tuberculosis NCIT:C26897 MONDO:equivalentTo Bone Tuberculosis MONDO:0018076 MONDO:0856366 sinus bradycardia NCIT:C26923 MONDO:equivalentTo Sinus Bradycardia MONDO:0007263 @@ -3206,7 +3035,6 @@ MONDO:0856407 sebaceous hyperplasia NCIT:C27152 MONDO:equivalentTo Sebaceous Hyp MONDO:0856408 arthritis or polyarthritis due to staphylococcus NCIT:C27163 MONDO:equivalentTo Arthritis or Polyarthritis due to Staphylococcus MONDO:0004471 MONDO:0856409 systemic lupus erythematosus rash NCIT:C27171 MONDO:equivalentTo Systemic Lupus Erythematosus Rash MONDO:0007915|MONDO:0005282 MONDO:0856410 injection site thrombophlebitis NCIT:C27175 MONDO:equivalentTo Injection Site Thrombophlebitis MONDO:0002800 -MONDO:0856411 palmar-plantar erythrodysthesia NCIT:C27177 MONDO:equivalentTo Palmar-Plantar Erythrodysthesia MONDO:0002254 MONDO:0856412 inherited neuropathy NCIT:C27187 MONDO:equivalentTo Inherited Neuropathy MONDO:0005244 MONDO:0856413 lupus encephalitis NCIT:C27196 MONDO:equivalentTo Lupus Encephalitis MONDO:0007915 MONDO:0856414 acute pneumonia NCIT:C27197 MONDO:equivalentTo Acute Pneumonia MONDO:0005249 @@ -3392,11 +3220,9 @@ MONDO:0856593 squamous cell carcinoma in situ of the nipple NCIT:C28292 MONDO:eq MONDO:0856594 advanced adult hepatocellular carcinoma NCIT:C28302 MONDO:equivalentTo Advanced Adult Hepatocellular Carcinoma MONDO:0016216 MONDO:0856595 aggravated acne NCIT:C28316 MONDO:equivalentTo Aggravated Acne MONDO:0011438 MONDO:0856596 tropical disease NCIT:C28356 MONDO:equivalentTo Tropical Disease MONDO:0005550 -MONDO:0856597 angiokeratoma NCIT:C2874 MONDO:equivalentTo Angiokeratoma MONDO:0021658 MONDO:0856598 anorexia NCIT:C2875 MONDO:equivalentTo Anorexia MONDO:0005451 MONDO:0856599 biliary system disorder NCIT:C2899 MONDO:equivalentTo Biliary System Disorder MONDO:0002515 MONDO:0856600 bone marrow hyperplasia NCIT:C2905 MONDO:equivalentTo Bone Marrow Hyperplasia MONDO:0005043 -MONDO:0856601 delirium NCIT:C2981 MONDO:equivalentTo Delirium MONDO:0002039 MONDO:0856602 enchondroma NCIT:C3007 MONDO:equivalentTo Enchondroma MONDO:0002360|MONDO:0000631 MONDO:0856603 petit mal epilepsy NCIT:C3023 MONDO:equivalentTo Petit Mal Epilepsy MONDO:0005027 MONDO:0856604 pancreatic glucagon-producing neuroendocrine tumor NCIT:C3062 MONDO:equivalentTo Pancreatic Glucagon-Producing Neuroendocrine Tumor MONDO:0019954 @@ -3421,7 +3247,6 @@ MONDO:0856622 anemia due to disorder of glutathione metabolism NCIT:C34384 MONDO MONDO:0856623 aphakia NCIT:C34392 MONDO:equivalentTo Aphakia MONDO:0001176 MONDO:0856624 arthropod-borne hemorrhagic fever NCIT:C34395 MONDO:equivalentTo Arthropod-Borne Hemorrhagic Fever MONDO:0018087 MONDO:0856625 aseptic necrosis of head and neck of femur NCIT:C34404 MONDO:equivalentTo Aseptic Necrosis of Head and Neck of Femur MONDO:0005380 -MONDO:0856626 blastomycosis NCIT:C34428 MONDO:equivalentTo Blastomycosis MONDO:0002041 MONDO:0856627 cellulitis of hand NCIT:C34454 MONDO:equivalentTo Cellulitis of Hand MONDO:0005230 MONDO:0856628 cutaneous schistosomiasis NCIT:C34457 MONDO:equivalentTo Cutaneous Schistosomiasis MONDO:0021201|MONDO:0015254 MONDO:0856629 cardiomyopathy in chagas' disease NCIT:C34462 MONDO:equivalentTo Cardiomyopathy in Chagas' Disease MONDO:0004994 @@ -3433,7 +3258,7 @@ MONDO:0856634 senile dementia NCIT:C34524 MONDO:equivalentTo Senile Dementia MO MONDO:0856635 reactive depression NCIT:C34533 MONDO:equivalentTo Reactive Depression MONDO:0002050 MONDO:0856636 emaciation NCIT:C34570 MONDO:equivalentTo Emaciation MONDO:0005066 MONDO:0856637 empyema with fistula NCIT:C34573 MONDO:equivalentTo Empyema with Fistula MONDO:0005242 -MONDO:0856638 grade 3 follicular lymphoma NCIT:C3460 MONDO:equivalentTo Grade 3 Follicular Lymphoma MONDO:0018906 +MONDO:0856638 grade 3 follicular lymphoma NCIT:C3460 MONDO:equivalentTo Grade 3 Follicular Lymphoma MONDO:0018906|MONDO:0017595 MONDO:0856639 exercise-induced bronchospasm NCIT:C34600 MONDO:equivalentTo Exercise-Induced Bronchospasm MONDO:0001358 MONDO:0856640 nonorganic enuresis NCIT:C34628 MONDO:equivalentTo Nonorganic Enuresis MONDO:0024290 MONDO:0856641 gastrointestinal malfunction arising from mental factor NCIT:C34633 MONDO:equivalentTo Gastrointestinal Malfunction Arising from Mental Factor MONDO:0003117 @@ -3448,7 +3273,6 @@ MONDO:0856649 sickle cell-hemoglobin c disease NCIT:C34676 MONDO:equivalentTo Si MONDO:0856650 hookworm infection NCIT:C34702 MONDO:equivalentTo Hookworm Infection MONDO:0005135 MONDO:0856651 hyperostosis of skull NCIT:C34713 MONDO:equivalentTo Hyperostosis of Skull MONDO:0002185 MONDO:0856652 latent schizophrenia NCIT:C34759 MONDO:equivalentTo Latent Schizophrenia MONDO:0005090 -MONDO:0856653 cutaneous leishmaniasis NCIT:C34768 MONDO:equivalentTo Cutaneous Leishmaniasis MONDO:0021201|MONDO:0011989 MONDO:0856654 addiction NCIT:C3479 MONDO:equivalentTo Addiction MONDO:0004938 MONDO:0856655 lobular capillary hemangioma NCIT:C3480 MONDO:equivalentTo Lobular Capillary Hemangioma MONDO:0002407 MONDO:0856656 malposition of heart and cardiac apex NCIT:C34804 MONDO:equivalentTo Malposition of Heart and Cardiac Apex MONDO:0005453 @@ -3482,7 +3306,6 @@ MONDO:0856683 modified smallpox NCIT:C35028 MONDO:equivalentTo Modified Smallpox MONDO:0856684 supraventricular tachycardia NCIT:C35061 MONDO:equivalentTo Supraventricular Tachycardia MONDO:0007263 MONDO:0856685 teething syndrome NCIT:C35063 MONDO:equivalentTo Teething Syndrome MONDO:0002254 MONDO:0856686 lateral epicondylitis NCIT:C35067 MONDO:equivalentTo Lateral Epicondylitis MONDO:0001875 -MONDO:0856687 subacute thyroiditis NCIT:C35071 MONDO:equivalentTo Subacute Thyroiditis MONDO:0004126 MONDO:0856688 genital leukoplakia NCIT:C3509 MONDO:equivalentTo Genital Leukoplakia MONDO:0043243 MONDO:0856689 idiopathic neuropathy NCIT:C35098 MONDO:equivalentTo Idiopathic Neuropathy MONDO:0005244 MONDO:0856690 local infection of skin and subcutaneous tissue NCIT:C35099 MONDO:equivalentTo Local Infection of Skin and Subcutaneous Tissue MONDO:0021201 @@ -3716,7 +3539,6 @@ MONDO:0856917 abdominal (mesenteric) fibromatosis NCIT:C3741 MONDO:equivalentTo MONDO:0856918 adenomatous polyp NCIT:C3764 MONDO:equivalentTo Adenomatous Polyp MONDO:0006180|MONDO:0021075 MONDO:0856919 multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma MONDO:0005065|MONDO:0021077 MONDO:0856920 giant cell carcinoma NCIT:C3779 MONDO:equivalentTo Giant Cell Carcinoma MONDO:0005232|MONDO:0002402|MONDO:0005617 -MONDO:0856921 cervical intraepithelial neoplasia NCIT:C3782 MONDO:equivalentTo Cervical Intraepithelial Neoplasia MONDO:0024474 MONDO:0856922 pityriasis lichenoides et varioliformis acuta NCIT:C37871 MONDO:equivalentTo Pityriasis Lichenoides et Varioliformis Acuta MONDO:0024249 MONDO:0856923 renal cell carcinoma associated with t(x;1)(p11.2;q21) NCIT:C37872 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;q21) MONDO:0006397 MONDO:0856924 renal cell carcinoma associated with t(x;1)(p11.2;p34) NCIT:C37874 MONDO:equivalentTo Renal Cell Carcinoma Associated with t(X;1)(p11.2;p34) MONDO:0006397 @@ -3731,7 +3553,6 @@ MONDO:0856932 dedifferentiated dermatofibrosarcoma protuberans NCIT:C38107 MONDO MONDO:0856933 dermatofibrosarcoma protuberans with giant cell fibroblastoma-like differentiation NCIT:C38108 MONDO:equivalentTo Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation MONDO:0011934 MONDO:0856934 skin basal cell carcinoma with adnexal differentiation NCIT:C38109 MONDO:equivalentTo Skin Basal Cell Carcinoma with Adnexal Differentiation MONDO:0005341 MONDO:0856935 metastatic malignant neoplasm in the brain NCIT:C3813 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Brain MONDO:0001657 -MONDO:0856936 metastatic malignant neoplasm in the leptomeninges NCIT:C3814 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Leptomeninges MONDO:0003762 MONDO:0856937 chronic allograft arteriopathy NCIT:C38146 MONDO:equivalentTo Chronic Allograft Arteriopathy MONDO:0000473 MONDO:0856938 clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres NCIT:C38154 MONDO:equivalentTo Clear Cell Myomelanocytic Tumor of the Falciform Ligament/Ligamentum Teres MONDO:0006359 MONDO:0856939 metachronous malignant neoplasm NCIT:C38156 MONDO:equivalentTo Metachronous Malignant Neoplasm MONDO:0004992 @@ -3840,8 +3661,8 @@ MONDO:0857041 cervical soft tissue neoplasm NCIT:C40216 MONDO:equivalentTo Cervi MONDO:0857042 uterine corpus endometrial stromal and related neoplasms NCIT:C40217 MONDO:equivalentTo Uterine Corpus Endometrial Stromal and Related Neoplasms MONDO:0037742 MONDO:0857043 cervical mixed epithelial and mesenchymal neoplasm NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm MONDO:0021043|MONDO:0021230 MONDO:0857044 malignant mixed epithelial and mesenchymal neoplasm of the cervix NCIT:C40228 MONDO:equivalentTo Malignant Mixed Epithelial and Mesenchymal Neoplasm of the Cervix MONDO:0002974 -MONDO:0857045 vaginal keratinizing squamous cell carcinoma NCIT:C40243 MONDO:equivalentTo Vaginal Keratinizing Squamous Cell Carcinoma MONDO:0005056 -MONDO:0857046 vaginal basaloid carcinoma NCIT:C40245 MONDO:equivalentTo Vaginal Basaloid Carcinoma MONDO:0003486 +MONDO:0857045 vaginal keratinizing squamous cell carcinoma NCIT:C40243 MONDO:equivalentTo Vaginal Keratinizing Squamous Cell Carcinoma MONDO:0005056|MONDO:0006490 +MONDO:0857046 vaginal basaloid carcinoma NCIT:C40245 MONDO:equivalentTo Vaginal Basaloid Carcinoma MONDO:0003486|MONDO:0006490 MONDO:0857047 vaginal endometrioid adenocarcinoma NCIT:C40251 MONDO:equivalentTo Vaginal Endometrioid Adenocarcinoma MONDO:0020653|MONDO:0005026 MONDO:0857048 vaginal mucinous adenocarcinoma NCIT:C40252 MONDO:equivalentTo Vaginal Mucinous Adenocarcinoma MONDO:0020653|MONDO:0004957 MONDO:0857049 vaginal mesonephric adenocarcinoma NCIT:C40253 MONDO:equivalentTo Vaginal Mesonephric Adenocarcinoma MONDO:0020653|MONDO:0005613 @@ -4165,7 +3986,7 @@ MONDO:0857366 breast hyperplasia NCIT:C4804 MONDO:equivalentTo Breast Hyperplasi MONDO:0857367 malignant odontogenic neoplasm NCIT:C4812 MONDO:equivalentTo Malignant Odontogenic Neoplasm MONDO:0021192|MONDO:0005515 MONDO:0857368 recurrent malignant neoplasm NCIT:C4813 MONDO:equivalentTo Recurrent Malignant Neoplasm MONDO:0004992 MONDO:0857369 tongue carcinoma NCIT:C4824 MONDO:equivalentTo Tongue Carcinoma MONDO:0004631|MONDO:0044925 -MONDO:0857370 parathyroid gland lipoadenoma NCIT:C48283 MONDO:equivalentTo Parathyroid Gland Lipoadenoma MONDO:0003431 +MONDO:0857370 parathyroid gland lipoadenoma NCIT:C48283 MONDO:equivalentTo Parathyroid Gland Lipoadenoma MONDO:0003431|MONDO:0006890 MONDO:0857371 atypical parathyroid gland tumor NCIT:C48285 MONDO:equivalentTo Atypical Parathyroid Gland Tumor MONDO:0021360 MONDO:0857372 disseminated squamous cell carcinoma NCIT:C4829 MONDO:equivalentTo Disseminated Squamous Cell Carcinoma MONDO:0044907 MONDO:0857373 sdh deficient tumor syndrome NCIT:C48300 MONDO:equivalentTo SDH Deficient Tumor Syndrome MONDO:0015356 @@ -4212,7 +4033,7 @@ MONDO:0857413 leptomeningeal neoplasm NCIT:C4958 MONDO:equivalentTo Leptomeninge MONDO:0857414 benign supratentorial neoplasm NCIT:C4963 MONDO:equivalentTo Benign Supratentorial Neoplasm MONDO:0021451 MONDO:0857415 benign infratentorial neoplasm NCIT:C4965 MONDO:equivalentTo Benign Infratentorial Neoplasm MONDO:0021451|MONDO:0037736 MONDO:0857416 therapy-related malignant neoplasm NCIT:C4969 MONDO:equivalentTo Therapy-Related Malignant Neoplasm MONDO:0004992 -MONDO:0857417 primary brain stem neoplasm NCIT:C4975 MONDO:equivalentTo Primary Brain Stem Neoplasm MONDO:0021228 +MONDO:0857417 primary brain stem neoplasm NCIT:C4975 MONDO:equivalentTo Primary Brain Stem Neoplasm MONDO:0021228|MONDO:0021632 MONDO:0857418 central nervous system vascular malformation NCIT:C4976 MONDO:equivalentTo Central Nervous System Vascular Malformation MONDO:0002320 MONDO:0857419 carcinoma unspecified site NCIT:C4979 MONDO:equivalentTo Carcinoma Unspecified Site MONDO:0004993 MONDO:0857420 oropharyngeal candidiasis NCIT:C4985 MONDO:equivalentTo Oropharyngeal Candidiasis MONDO:0002026 @@ -4339,7 +4160,7 @@ MONDO:0857540 juvenile cataract NCIT:C53976 MONDO:equivalentTo Juvenile Cataract MONDO:0857541 undifferentiated stromal sarcoma NCIT:C53994 MONDO:equivalentTo Undifferentiated Stromal Sarcoma MONDO:0037742|MONDO:0044337|MONDO:0001416 MONDO:0857542 benign gastrointestinal stromal tumor NCIT:C53998 MONDO:equivalentTo Benign Gastrointestinal Stromal Tumor MONDO:0044335|MONDO:0011719 MONDO:0857543 malignant gastrointestinal stromal tumor NCIT:C53999 MONDO:equivalentTo Malignant Gastrointestinal Stromal Tumor MONDO:0011719|MONDO:0044337 -MONDO:0857544 central nervous system embryonal tumor, not otherwise specified with leptomeningeal spread NCIT:C5400 MONDO:equivalentTo Central Nervous System Embryonal Tumor, Not Otherwise Specified with Leptomeningeal Spread MONDO:0000640 +MONDO:0857544 central nervous system embryonal tumor, not otherwise specified with leptomeningeal spread NCIT:C5400 MONDO:equivalentTo Central Nervous System Embryonal Tumor, Not Otherwise Specified with Leptomeningeal Spread MONDO:0000640|MONDO:0700219 MONDO:0857545 gastrointestinal stromal tumor of uncertain malignant potential NCIT:C54000 MONDO:equivalentTo Gastrointestinal Stromal Tumor of Uncertain Malignant Potential MONDO:0011719 MONDO:0857546 region 17p13 allelic loss associated medulloblastoma NCIT:C5402 MONDO:equivalentTo Region 17p13 Allelic Loss Associated Medulloblastoma MONDO:0007959 MONDO:0857547 nevoid basal cell carcinoma syndrome associated medulloblastoma NCIT:C5405 MONDO:equivalentTo Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma MONDO:0007959 @@ -4535,7 +4356,7 @@ MONDO:0857736 ovarian endometrioid tumor NCIT:C6257 MONDO:equivalentTo Ovarian E MONDO:0857737 mood alteration NCIT:C62592 MONDO:equivalentTo Mood Alteration MONDO:0005371 MONDO:0857738 childhood cerebral ependymoma, not otherwise specified NCIT:C6268 MONDO:equivalentTo Childhood Cerebral Ependymoma, Not Otherwise Specified MONDO:0004249 MONDO:0857739 fallopian tube undifferentiated carcinoma NCIT:C6281 MONDO:equivalentTo Fallopian Tube Undifferentiated Carcinoma MONDO:0006206|MONDO:0005617 -MONDO:0857740 vaginal verrucous carcinoma NCIT:C6325 MONDO:equivalentTo Vaginal Verrucous Carcinoma MONDO:0006006 +MONDO:0857740 vaginal verrucous carcinoma NCIT:C6325 MONDO:equivalentTo Vaginal Verrucous Carcinoma MONDO:0006006|MONDO:0006490 MONDO:0857741 metastatic malignant neoplasm in the vulva NCIT:C6332 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Vulva MONDO:0001528|MONDO:0024880 MONDO:0857742 metastatic malignant neoplasm in the vagina NCIT:C6333 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Vagina MONDO:0001402|MONDO:0024880 MONDO:0857743 benign uterine corpus mixed epithelial and mesenchymal neoplasm NCIT:C6335 MONDO:equivalentTo Benign Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm MONDO:0016255|MONDO:0021525 @@ -4718,7 +4539,6 @@ MONDO:0857919 mature b-cell non-hodgkin lymphoma NCIT:C7056 MONDO:equivalentTo M MONDO:0857920 drug/toxin-induced aplastic anemia NCIT:C70613 MONDO:equivalentTo Drug/Toxin-Induced Aplastic Anemia MONDO:0015909 MONDO:0857921 neoplasm by special category NCIT:C7062 MONDO:equivalentTo Neoplasm by Special Category MONDO:0005070 MONDO:0857922 destructive arthritis NCIT:C70634 MONDO:equivalentTo Destructive Arthritis MONDO:0005578 -MONDO:0857923 necrotizing vasculitis NCIT:C70635 MONDO:equivalentTo Necrotizing Vasculitis MONDO:0018882 MONDO:0857924 sicca syndrome NCIT:C70647 MONDO:equivalentTo Sicca Syndrome MONDO:0002254 MONDO:0857925 megakaryocytic neoplasm NCIT:C7066 MONDO:equivalentTo Megakaryocytic Neoplasm MONDO:0005170|MONDO:0021138 MONDO:0857926 prostate cancer by whitmore-jewett stage NCIT:C7079 MONDO:equivalentTo Prostate Cancer by Whitmore-Jewett Stage MONDO:0005159 @@ -5107,15 +4927,12 @@ MONDO:0858308 hereditary angioedema types i and ii NCIT:C84757 MONDO:equivalentT MONDO:0858309 ileitis NCIT:C84782 MONDO:equivalentTo Ileitis MONDO:0043579 MONDO:0858310 malformations of cortical development NCIT:C84834 MONDO:equivalentTo Malformations of Cortical Development MONDO:0002320 MONDO:0858311 recurrent mantle cell lymphoma NCIT:C8489 MONDO:equivalentTo Recurrent Mantle Cell Lymphoma MONDO:0018876 -MONDO:0858312 postural orthostatic tachycardia syndrome NCIT:C85020 MONDO:equivalentTo Postural Orthostatic Tachycardia Syndrome MONDO:0002254 MONDO:0858313 refsum disease NCIT:C85043 MONDO:equivalentTo Refsum Disease MONDO:0019046 MONDO:0858314 invasive malignant neoplasm NCIT:C8505 MONDO:equivalentTo Invasive Malignant Neoplasm MONDO:0004992 MONDO:0858315 spinal muscular atrophy of childhood NCIT:C85076 MONDO:equivalentTo Spinal Muscular Atrophy of Childhood MONDO:0001516 MONDO:0858316 refractory carcinoma NCIT:C8511 MONDO:equivalentTo Refractory Carcinoma MONDO:0036501|MONDO:0004993 -MONDO:0858317 toxocariasis NCIT:C85194 MONDO:equivalentTo Toxocariasis MONDO:0005135 MONDO:0858318 xo syndrome NCIT:C85210 MONDO:equivalentTo XO Syndrome MONDO:0019499 MONDO:0858319 niemann-pick disease, type c NCIT:C85214 MONDO:equivalentTo Niemann-Pick Disease, Type C MONDO:0001982 -MONDO:0858320 x-linked dominant hypophosphatemic rickets NCIT:C85234 MONDO:equivalentTo X-Linked Dominant Hypophosphatemic Rickets MONDO:0000425|MONDO:0024300 MONDO:0858321 locally advanced malignant neoplasm NCIT:C8524 MONDO:equivalentTo Locally Advanced Malignant Neoplasm MONDO:0024880 MONDO:0858322 metastatic malignant neoplasm in the neck NCIT:C8528 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Neck MONDO:0021310 MONDO:0858323 metastatic malignant neoplasm in the chest wall NCIT:C8530 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Chest Wall MONDO:0021323 @@ -5168,7 +4985,6 @@ MONDO:0858369 metastatic angiosarcoma NCIT:C8708 MONDO:equivalentTo Metastatic A MONDO:0858370 metastatic malignant hemangiopericytoma NCIT:C8709 MONDO:equivalentTo Metastatic Malignant Hemangiopericytoma MONDO:0009330 MONDO:0858371 primary malignant hemangiopericytoma NCIT:C8710 MONDO:equivalentTo Primary Malignant Hemangiopericytoma MONDO:0009330 MONDO:0858372 regional malignant ureter neoplasm NCIT:C8716 MONDO:equivalentTo Regional Malignant Ureter Neoplasm MONDO:0008627 -MONDO:0858373 group b streptococcal infection NCIT:C87168 MONDO:equivalentTo Group B Streptococcal Infection MONDO:0021680 MONDO:0858374 stage i ovarian dysgerminoma ajcc v6 and v7 NCIT:C8723 MONDO:equivalentTo Stage I Ovarian Dysgerminoma AJCC v6 and v7 MONDO:0003481 MONDO:0858375 stage ii ovarian dysgerminoma ajcc v6 and v7 NCIT:C8724 MONDO:equivalentTo Stage II Ovarian Dysgerminoma AJCC v6 and v7 MONDO:0003481 MONDO:0858376 stage ii ovarian embryonal carcinoma ajcc v6 and v7 NCIT:C8725 MONDO:equivalentTo Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7 MONDO:0003581 @@ -5238,7 +5054,7 @@ MONDO:0858439 recurrent nodular sclerosis classic hodgkin lymphoma NCIT:C8837 MO MONDO:0858440 refractory nodular sclerosis classic hodgkin lymphoma NCIT:C8838 MONDO:equivalentTo Refractory Nodular Sclerosis Classic Hodgkin Lymphoma MONDO:0004665 MONDO:0858441 recurrent diffuse large b-cell lymphoma NCIT:C8852 MONDO:equivalentTo Recurrent Diffuse Large B-Cell Lymphoma MONDO:0018905 MONDO:0858442 refractory diffuse large b-cell lymphoma NCIT:C8853 MONDO:equivalentTo Refractory Diffuse Large B-Cell Lymphoma MONDO:0018905 -MONDO:0858443 b lymphoblastic lymphoma NCIT:C8868 MONDO:equivalentTo B Lymphoblastic Lymphoma MONDO:0000873 +MONDO:0858443 b lymphoblastic lymphoma NCIT:C8868 MONDO:equivalentTo B Lymphoblastic Lymphoma MONDO:0000873|MONDO:0017595|MONDO:0004947 MONDO:0858444 recurrent primary mediastinal (thymic) large b-cell lymphoma NCIT:C8874 MONDO:equivalentTo Recurrent Primary Mediastinal (Thymic) Large B-Cell Lymphoma MONDO:0020323 MONDO:0858445 refractory primary mediastinal (thymic) large b-cell lymphoma NCIT:C8875 MONDO:equivalentTo Refractory Primary Mediastinal (Thymic) Large B-Cell Lymphoma MONDO:0020323 MONDO:0858446 extragonadal embryonal carcinoma NCIT:C8880 MONDO:equivalentTo Extragonadal Embryonal Carcinoma MONDO:0003578|MONDO:0005440 @@ -5425,13 +5241,13 @@ MONDO:0858626 breast ductal carcinoma in situ, low grade NCIT:C9457 MONDO:equiva MONDO:0858627 borderline ovarian brenner tumor NCIT:C9459 MONDO:equivalentTo Borderline Ovarian Brenner Tumor MONDO:0016093|MONDO:0002370 MONDO:0858628 systemic anaplastic large cell lymphoma NCIT:C9470 MONDO:equivalentTo Systemic Anaplastic Large Cell Lymphoma MONDO:0020325 MONDO:0858629 atypical gastric lymphoid hyperplasia NCIT:C9472 MONDO:equivalentTo Atypical Gastric Lymphoid Hyperplasia MONDO:0044921 -MONDO:0858630 meningeal leukemia NCIT:C94754 MONDO:equivalentTo Meningeal Leukemia MONDO:0001606 +MONDO:0858630 meningeal leukemia NCIT:C94754 MONDO:equivalentTo Meningeal Leukemia MONDO:0001606|MONDO:0700219 MONDO:0858631 meningeal lymphoma NCIT:C94756 MONDO:equivalentTo Meningeal Lymphoma MONDO:0002571|MONDO:0021322 MONDO:0858632 multifocal breast carcinoma NCIT:C94770 MONDO:equivalentTo Multifocal Breast Carcinoma MONDO:0004989 MONDO:0858633 multicentric breast carcinoma NCIT:C94772 MONDO:equivalentTo Multicentric Breast Carcinoma MONDO:0004989 MONDO:0858634 early stage breast carcinoma NCIT:C94774 MONDO:equivalentTo Early Stage Breast Carcinoma MONDO:0004989 MONDO:0858635 hereditary malignant neoplasm NCIT:C9479 MONDO:equivalentTo Hereditary Malignant Neoplasm MONDO:0004992 -MONDO:0858636 inherited bone marrow failure syndrome NCIT:C94810 MONDO:equivalentTo Inherited Bone Marrow Failure Syndrome MONDO:0015356 +MONDO:0858636 inherited bone marrow failure syndrome NCIT:C94810 MONDO:equivalentTo Inherited Bone Marrow Failure Syndrome MONDO:0015356|MONDO:0000159 MONDO:0858637 stage i borderline ovarian surface epithelial-stromal tumor NCIT:C94821 MONDO:equivalentTo Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 MONDO:0858638 stage ii borderline ovarian surface epithelial-stromal tumor NCIT:C94822 MONDO:equivalentTo Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 MONDO:0858639 stage iii borderline ovarian surface epithelial-stromal tumor NCIT:C94824 MONDO:equivalentTo Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor MONDO:0016093 @@ -5590,7 +5406,6 @@ MONDO:0858791 invasive breast lobular carcinoma, tubulolobular variant NCIT:C970 MONDO:0858792 mixed congenital mesoblastic nephroma NCIT:C97058 MONDO:equivalentTo Mixed Congenital Mesoblastic Nephroma MONDO:0017043|MONDO:0005853 MONDO:0858793 acute esophagitis NCIT:C97066 MONDO:equivalentTo Acute Esophagitis MONDO:0001409 MONDO:0858794 chronic esophagitis NCIT:C97067 MONDO:equivalentTo Chronic Esophagitis MONDO:0001409 -MONDO:0858795 extrahepatic biliary atresia NCIT:C97069 MONDO:equivalentTo Extrahepatic Biliary Atresia MONDO:0008867 MONDO:0858796 intrahepatic biliary atresia NCIT:C97070 MONDO:equivalentTo Intrahepatic Biliary Atresia MONDO:0008867 MONDO:0858797 denture-induced fibrous hyperplasia NCIT:C97080 MONDO:equivalentTo Denture-Induced Fibrous Hyperplasia MONDO:0005043 MONDO:0858798 diffuse hyperplasia NCIT:C97081 MONDO:equivalentTo Diffuse Hyperplasia MONDO:0005043 @@ -5616,8 +5431,8 @@ MONDO:0858817 acquired methemoglobinemia NCIT:C98805 MONDO:equivalentTo Acquired MONDO:0858818 acquired rickets NCIT:C98806 MONDO:equivalentTo Acquired Rickets MONDO:0005520 MONDO:0858819 large intestine atresia NCIT:C98827 MONDO:equivalentTo Large Intestine Atresia MONDO:0001045 MONDO:0858820 autosomal dominant disorder NCIT:C98829 MONDO:equivalentTo Autosomal Dominant Disorder MONDO:0003847 -MONDO:0858821 myelocele NCIT:C98874 MONDO:equivalentTo Myelocele MONDO:0002320 -MONDO:0858822 congenital vena cava abnormality NCIT:C98886 MONDO:equivalentTo Congenital Vena Cava Abnormality MONDO:0024239 +MONDO:0858821 myelocele NCIT:C98874 MONDO:equivalentTo Myelocele MONDO:0002320|MONDO:0700092 +MONDO:0858822 congenital vena cava abnormality NCIT:C98886 MONDO:equivalentTo Congenital Vena Cava Abnormality MONDO:0024239|MONDO:0004634 MONDO:0858823 postural scoliosis NCIT:C98899 MONDO:equivalentTo Postural Scoliosis MONDO:0005392 MONDO:0858824 discordant ventriculoarterial connection NCIT:C98914 MONDO:equivalentTo Discordant Ventriculoarterial Connection MONDO:0024239 MONDO:0858825 ear tag NCIT:C98919 MONDO:equivalentTo Ear Tag MONDO:0004026 @@ -5656,8 +5471,48 @@ MONDO:0859474 disease, disorder or finding NCIT:C7057 MONDO:equivalentTo Disease MONDO:0859554 medaka melanoma NCIT:C134572 MONDO:equivalentTo Medaka Melanoma MONDO:0700196 MONDO:0859555 xiphophorus melanoma NCIT:C134575 MONDO:equivalentTo Xiphophorus Melanoma MONDO:0700196 MONDO:0859556 non-human or experimental organism neoplasm NCIT:C134576 MONDO:equivalentTo Non-Human or Experimental Organism Neoplasm -MONDO:0859557 refractory anemia NCIT:C2872 MONDO:equivalentTo Refractory Anemia MONDO:0005272 -MONDO:0859558 lynch 1 syndrome NCIT:C6725 MONDO:equivalentTo Lynch 1 Syndrome MONDO:0005835 -MONDO:0859559 lynch 2 syndrome NCIT:C6726 MONDO:equivalentTo Lynch 2 Syndrome MONDO:0005835 MONDO:0859560 tubulostromal adenoma NCIT:C79953 MONDO:equivalentTo Tubulostromal Adenoma MONDO:0859561 tubulostromal adenocarcinoma NCIT:C80356 MONDO:equivalentTo Tubulostromal Adenocarcinoma +MONDO:0859694 coronary venous dissection NCIT:C100070 MONDO:equivalentTo Coronary Venous Dissection MONDO:0004634 +MONDO:0859695 group b streptococcal infection, early-onset NCIT:C116793 MONDO:equivalentTo Group B Streptococcal Infection, Early-Onset MONDO:0700218 +MONDO:0859696 group b streptococcal infection, late-onset NCIT:C116795 MONDO:equivalentTo Group B Streptococcal Infection, Late-Onset MONDO:0700218 +MONDO:0859697 transcription factor-associated monogenic diabetes NCIT:C129748 MONDO:equivalentTo Transcription Factor-Associated Monogenic Diabetes MONDO:0015967 +MONDO:0859698 factor v inactivation NCIT:C131664 MONDO:equivalentTo Factor V Inactivation MONDO:0035737 +MONDO:0859699 factor vii inactivation NCIT:C131665 MONDO:equivalentTo Factor VII Inactivation MONDO:0035738 +MONDO:0859700 factor xi inactivation NCIT:C131668 MONDO:equivalentTo Factor XI Inactivation MONDO:0035740 +MONDO:0859701 k atp channel-associated diabetes mellitus NCIT:C131847 MONDO:equivalentTo K ATP Channel-Associated Diabetes Mellitus MONDO:0015967 +MONDO:0859702 nuclear cataract grade 1 NCIT:C135193 MONDO:equivalentTo Nuclear Cataract Grade 1 MONDO:0045050 +MONDO:0859703 nuclear cataract grade 2 NCIT:C135194 MONDO:equivalentTo Nuclear Cataract Grade 2 MONDO:0045050 +MONDO:0859704 nuclear cataract grade 3 NCIT:C135195 MONDO:equivalentTo Nuclear Cataract Grade 3 MONDO:0045050 +MONDO:0859705 nuclear cataract grade 4 NCIT:C135196 MONDO:equivalentTo Nuclear Cataract Grade 4 MONDO:0045050 +MONDO:0859706 cortical cataract grade 1 NCIT:C135197 MONDO:equivalentTo Cortical Cataract Grade 1 MONDO:0045051 +MONDO:0859707 cortical cataract grade 2 NCIT:C135198 MONDO:equivalentTo Cortical Cataract Grade 2 MONDO:0045051 +MONDO:0859708 cortical cataract grade 3 NCIT:C135199 MONDO:equivalentTo Cortical Cataract Grade 3 MONDO:0045051 +MONDO:0859709 cortical cataract grade 4 NCIT:C135200 MONDO:equivalentTo Cortical Cataract Grade 4 MONDO:0045051 +MONDO:0859710 peroxisome biogenesis disorder 1a NCIT:C155748 MONDO:equivalentTo Peroxisome Biogenesis Disorder 1A MONDO:0019234 +MONDO:0859711 peroxisome biogenesis disorder 2a NCIT:C155750 MONDO:equivalentTo Peroxisome Biogenesis Disorder 2A MONDO:0019234 +MONDO:0859712 peroxisome biogenesis disorder 3b NCIT:C155753 MONDO:equivalentTo Peroxisome Biogenesis Disorder 3B MONDO:0019234 +MONDO:0859713 peroxisome biogenesis disorder 7a NCIT:C155760 MONDO:equivalentTo Peroxisome Biogenesis Disorder 7A MONDO:0019234 +MONDO:0859714 peroxisome biogenesis disorder 8a NCIT:C155762 MONDO:equivalentTo Peroxisome Biogenesis Disorder 8A MONDO:0019234 +MONDO:0859715 gabriele-de vries syndrome NCIT:C165531 MONDO:equivalentTo Gabriele-de Vries Syndrome MONDO:0700092|MONDO:0002254 +MONDO:0859716 severe congenital neutropenia type 3, autosomal recessive NCIT:C166153 MONDO:equivalentTo Severe Congenital Neutropenia Type 3, Autosomal Recessive MONDO:0028226 +MONDO:0859717 unresectable nasopharyngeal squamous cell carcinoma NCIT:C172647 MONDO:equivalentTo Unresectable Nasopharyngeal Squamous Cell Carcinoma MONDO:0006060 +MONDO:0859718 recurrent metastatic malignant neoplasm in the leptomeninges NCIT:C173916 MONDO:equivalentTo Recurrent Metastatic Malignant Neoplasm in the Leptomeninges MONDO:0700219 +MONDO:0859719 recurrent al amyloidosis NCIT:C174054 MONDO:equivalentTo Recurrent AL Amyloidosis MONDO:0019438 +MONDO:0859720 refractory al amyloidosis NCIT:C174055 MONDO:equivalentTo Refractory AL Amyloidosis MONDO:0019438 +MONDO:0859721 severe congenital neutropenia type 6, autosomal recessive NCIT:C176602 MONDO:equivalentTo Severe Congenital Neutropenia Type 6, Autosomal Recessive MONDO:0028226 +MONDO:0859722 severe congenital neutropenia type 2, autosomal dominant NCIT:C176610 MONDO:equivalentTo Severe Congenital Neutropenia Type 2, Autosomal Dominant MONDO:0008742 +MONDO:0859723 severe congenital neutropenia type 5, autosomal recessive NCIT:C176612 MONDO:equivalentTo Severe Congenital Neutropenia Type 5, Autosomal Recessive MONDO:0028226 +MONDO:0859724 severe congenital neutropenia type 7, autosomal recessive NCIT:C176614 MONDO:equivalentTo Severe Congenital Neutropenia Type 7, Autosomal Recessive MONDO:0028226 +MONDO:0859725 neutropenia, severe congenital, x-linked NCIT:C176818 MONDO:equivalentTo Neutropenia, Severe Congenital, X-Linked MONDO:0018542 +MONDO:0859726 severe congenital neutropenia type 1, autosomal dominant NCIT:C176827 MONDO:equivalentTo Severe Congenital Neutropenia Type 1, Autosomal Dominant MONDO:0008742 +MONDO:0859727 human papillomavirus-independent vaginal squamous cell carcinoma NCIT:C180919 MONDO:equivalentTo Human Papillomavirus-Independent Vaginal Squamous Cell Carcinoma MONDO:0006490 +MONDO:0859728 extramedullary disease in plasma cell myeloma involving the leptomeninges NCIT:C185039 MONDO:equivalentTo Extramedullary Disease in Plasma Cell Myeloma Involving the Leptomeninges MONDO:0700219 +MONDO:0859729 refractory vaginal squamous cell carcinoma NCIT:C185303 MONDO:equivalentTo Refractory Vaginal Squamous Cell Carcinoma MONDO:0006490 +MONDO:0859730 vaginal non-keratinizing squamous cell carcinoma NCIT:C40244 MONDO:equivalentTo Vaginal Non-Keratinizing Squamous Cell Carcinoma MONDO:0006490 +MONDO:0859731 medulloblastoma with leptomeningeal spread NCIT:C5399 MONDO:equivalentTo Medulloblastoma with Leptomeningeal Spread MONDO:0700219 +MONDO:0859732 bronchiolitis obliterans NCIT:C62580 MONDO:equivalentTo Bronchiolitis Obliterans MONDO:0002465 +MONDO:0859733 delirium due to a general medical condition NCIT:C92639 MONDO:equivalentTo Delirium Due to a General Medical Condition MONDO:0045057 +MONDO:0859734 substance intoxication delirium NCIT:C92640 MONDO:equivalentTo Substance Intoxication Delirium MONDO:0045057 +MONDO:0859735 substance withdrawal delirium NCIT:C92641 MONDO:equivalentTo Substance Withdrawal Delirium MONDO:0045057 +MONDO:0859736 pseudomonas-related vasculitis NCIT:C97118 MONDO:equivalentTo Pseudomonas-Related Vasculitis MONDO:0800113 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index a11c62e9..faf847cc 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,32 +1,23 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0859046 rhabdomyosarcoma, embryonal, 2 OMIM:180295 MONDO:equivalentTo rhabdomyosarcoma, embryonal, 2 MONDO:0859050 schistosoma mansoni infection, susceptibility/resistance to OMIM:181460 MONDO:equivalentTo schistosoma mansoni infection, susceptibility/resistance to -MONDO:0859080 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:301066 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies MONDO:0859081 chromosome xq13 duplication syndrome OMIM:301069 MONDO:equivalentTo chromosome xq13 duplication syndrome MONDO:0859082 thrombophilia, x-linked, due to factor 8 defect OMIM:301071 MONDO:equivalentTo thrombophilia, x-linked, due to factor 8 defect MONDO:0859083 systemic lupus erythematosus 17 OMIM:301080 MONDO:equivalentTo systemic lupus erythematosus 17 MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, x-linked OMIM:301094 MONDO:equivalentTo neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked -MONDO:0859086 intellectual developmental disorder, x-linked 110 OMIM:301095 MONDO:equivalentTo intellectual developmental disorder, X-linked 110 MONDO:0019181 MONDO:0859136 alzahrani-kuwahara syndrome OMIM:619268 MONDO:equivalentTo alzahrani-kuwahara syndrome MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM:619286 MONDO:equivalentTo neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MONDO:0859138 mahvash disease OMIM:619290 MONDO:equivalentTo mahvash disease MONDO:0859139 blepharophimosis-impaired intellectual development syndrome OMIM:619293 MONDO:equivalentTo blepharophimosis-impaired intellectual development syndrome -MONDO:0859140 kinsship syndrome OMIM:619297 MONDO:equivalentTo kinsship syndrome MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM:619306 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia MONDO:0859142 hiatt-neu-cooper neurodevelopmental syndrome OMIM:619311 MONDO:equivalentTo hiatt-neu-cooper neurodevelopmental syndrome MONDO:0859143 radio-tartaglia syndrome OMIM:619312 MONDO:equivalentTo radio-tartaglia syndrome MONDO:0859144 buratti-harel syndrome OMIM:619314 MONDO:equivalentTo buratti-harel syndrome -MONDO:0859145 oculogastrointestinal neurodevelopmental syndrome OMIM:619318 MONDO:equivalentTo oculogastrointestinal neurodevelopmental syndrome MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM:619321 MONDO:equivalentTo growth restriction, hypoplastic kidneys, alopecia, and distinctive facies -MONDO:0859147 marbach-rustad progeroid syndrome OMIM:619322 MONDO:equivalentTo marbach-rustad progeroid syndrome MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth OMIM:619323 MONDO:equivalentTo neurodevelopmental disorder with seizures and gingival overgrowth MONDO:0859149 hypertriglyceridemia 2 OMIM:619324 MONDO:equivalentTo hypertriglyceridemia 2 -MONDO:0859150 bdv syndrome OMIM:619326 MONDO:equivalentTo bdv syndrome MONDO:0859151 fibromuscular dysplasia, multifocal OMIM:619329 MONDO:equivalentTo fibromuscular dysplasia, multifocal MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM:619333 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction -MONDO:0859153 cataracts, spastic paraparesis, and speech delay OMIM:619338 MONDO:equivalentTo cataracts, spastic paraparesis, and speech delay -MONDO:0859154 bartsocas-papas syndrome 2 OMIM:619339 MONDO:equivalentTo bartsocas-papas syndrome 2 MONDO:0859155 chromosome 1p36 deletion syndrome, proximal OMIM:619343 MONDO:equivalentTo chromosome 1p36 deletion syndrome, proximal MONDO:0859156 dysostosis multiplex, ain-naz iia OMIM:619345 MONDO:equivalentTo dysostosis multiplex, ain-naz iia MONDO:0859157 visceral myopathy 2 OMIM:619350 MONDO:equivalentTo visceral myopathy 2 @@ -99,8 +90,6 @@ MONDO:0859223 congenital disorder of glycosylation, iia iw, autosomal dominant MONDO:0859224 intellectual disability and myopathy syndrome OMIM:619719 MONDO:equivalentTo intellectual disability and myopathy syndrome MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities OMIM:619725 MONDO:equivalentTo neurodevelopmental disorder with or without variable movement or behavioral abnormalities MONDO:0859226 craniotubular dysplasia, ikegawa iia OMIM:619727 MONDO:equivalentTo craniotubular dysplasia, ikegawa iia -MONDO:0859227 inclusion body myopathy and brain white matter abnormalities OMIM:619733 MONDO:equivalentTo inclusion body myopathy and brain white matter abnormalities -MONDO:0859228 combined oxidative phosphorylation deficiency 55 OMIM:619743 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 MONDO:0000732 MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619761 MONDO:equivalentTo cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism MONDO:0859230 kury-isidor syndrome OMIM:619762 MONDO:equivalentTo kury-isidor syndrome MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619769 MONDO:equivalentTo macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin @@ -114,10 +103,8 @@ MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate OMIM:619836 MON MONDO:0859239 chilton-okur-chung neurodevelopmental syndrome OMIM:619841 MONDO:equivalentTo chilton-okur-chung neurodevelopmental syndrome MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy OMIM:619844 MONDO:equivalentTo intellectual developmental disorder with or without peripheral neuropathy MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly OMIM:619847 MONDO:equivalentTo neurodegeneration, childhood-onset, with progressive microcephaly -MONDO:0859242 leukodystrophy, hypomyelinating, 24 OMIM:619851 MONDO:equivalentTo leukodystrophy, hypomyelinating, 24 MONDO:0019046 MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM:619854 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency OMIM:619859 MONDO:equivalentTo phosphoribosylaminoimidazole carboxylase deficiency -MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 OMIM:619862 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 MONDO:0859246 leukodystrophy, childhood-onset, remitting OMIM:619864 MONDO:equivalentTo leukodystrophy, childhood-onset, remitting MONDO:0859247 neurocardiofaciodigital syndrome OMIM:619869 MONDO:equivalentTo neurocardiofaciodigital syndrome MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet OMIM:619871 MONDO:equivalentTo corneal dystrophy, punctiform and polychromatic pre-descemet @@ -172,125 +159,36 @@ MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement d MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia OMIM:620094 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies OMIM:620098 MONDO:equivalentTo developmental delay with variable intellectual disability and dysmorphic facies MONDO:0859307 cleidocranial dysplasia 2 OMIM:620099 MONDO:equivalentTo cleidocranial dysplasia 2 -MONDO:0859308 retinitis pigmentosa 95 OMIM:620102 MONDO:equivalentTo retinitis pigmentosa 95 MONDO:0019200 -MONDO:0859309 spastic paraplegia 88, autosomal dominant OMIM:620106 MONDO:equivalentTo spastic paraplegia 88, autosomal dominant MONDO:0019064 MONDO:0859310 orofaciodigital syndrome 19 OMIM:620107 MONDO:equivalentTo orofaciodigital syndrome 19 -MONDO:0859311 charcot-marie-tooth disease, demyelinating, iia 1j OMIM:620111 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1j MONDO:0015626 MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM:620113 MONDO:equivalentTo neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures OMIM:620114 MONDO:equivalentTo neurodevelopmental disorder with speech impairment and with or without seizures -MONDO:0859314 developmental and epileptic encephalopathy 108 OMIM:620115 MONDO:equivalentTo developmental and epileptic encephalopathy 108 MONDO:0100062 MONDO:0859315 fatty liver disease, protection from OMIM:620116 MONDO:equivalentTo fatty liver disease, protection from MONDO:0859316 iron overload, susceptibility to OMIM:620121 MONDO:equivalentTo iron overload, susceptibility to MONDO:0859317 pseudohypoaldosteronism, iia ib2, autosomal recessive OMIM:620125 MONDO:equivalentTo pseudohypoaldosteronism, iia ib2, autosomal recessive MONDO:0859318 pseudohypoaldosteronism, iia ib3, autosomal recessive OMIM:620126 MONDO:equivalentTo pseudohypoaldosteronism, iia ib3, autosomal recessive -MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 OMIM:620133 MONDO:equivalentTo dyskeratosis congenita, autosomal recessive 8 MONDO:0015780 -MONDO:0859320 mitochondrial complex 1 deficiency, nuclear iia 39 OMIM:620135 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 39 MONDO:0100223 -MONDO:0859321 mitochondrial complex 3 deficiency, nuclear iia 11 OMIM:620137 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 11 MONDO:0020811 MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM:620138 MONDO:equivalentTo myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis -MONDO:0859323 combined oxidative phosphorylation deficiency 56 OMIM:620139 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 MONDO:0000732 MONDO:0859324 developmental delay, language impairment, and ocular abnormalities OMIM:620141 MONDO:equivalentTo developmental delay, language impairment, and ocular abnormalities -MONDO:0859325 developmental and epileptic encephalopathy 109 OMIM:620145 MONDO:equivalentTo developmental and epileptic encephalopathy 109 MONDO:0100062 -MONDO:0859327 developmental and epileptic encephalopathy 110 OMIM:620149 MONDO:equivalentTo developmental and epileptic encephalopathy 110 MONDO:0100062 -MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:620152 MONDO:equivalentTo hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 OMIM:620153 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 MONDO:0000141 MONDO:0859330 oocyte maturation defect 13 OMIM:620154 MONDO:equivalentTo oocyte maturation defect 13 MONDO:0859331 rabin-pappas syndrome OMIM:620155 MONDO:equivalentTo rabin-pappas syndrome -MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 OMIM:620156 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 11 MONDO:0000904 -MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 OMIM:620157 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 70 MONDO:0100172 -MONDO:0859334 spinocerebellar ataxia 50 OMIM:620158 MONDO:equivalentTo spinocerebellar ataxia 50 MONDO:0020380 MONDO:0859335 congenital myopathy 15 OMIM:620161 MONDO:equivalentTo congenital myopathy 15 MONDO:0859336 muscular dystrophy, congenital, with or without seizures OMIM:620166 MONDO:equivalentTo muscular dystrophy, congenital, with or without seizures -MONDO:0859337 combined oxidative phosphorylation deficiency 57 OMIM:620167 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 MONDO:0000732 -MONDO:0859338 spermatogenic failure 78 OMIM:620170 MONDO:equivalentTo spermatogenic failure 78 MONDO:0004983 -MONDO:0859339 tooth agenesis, selective, 10 OMIM:620173 MONDO:equivalentTo tooth agenesis, selective, 10 MONDO:0005486 -MONDO:0859340 spinocerebellar ataxia 27b, late-onset OMIM:620174 MONDO:equivalentTo spinocerebellar ataxia 27b, late-onset MONDO:0020380 -MONDO:0859341 hypotrichosis 15 OMIM:620177 MONDO:equivalentTo hypotrichosis 15 MONDO:0003037 -MONDO:0859342 microcephaly 30, primary, autosomal recessive OMIM:620183 MONDO:equivalentTo microcephaly 30, primary, autosomal recessive MONDO:0016660 MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome OMIM:620186 MONDO:equivalentTo branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:620189 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM:620191 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM:620194 MONDO:equivalentTo neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies MONDO:0859351 obesity and hypopigmentation OMIM:620195 MONDO:equivalentTo obesity and hypopigmentation -MONDO:0859352 spermatogenic failure 79 OMIM:620196 MONDO:equivalentTo spermatogenic failure 79 MONDO:0004983 -MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620197 MONDO:equivalentTo ciliary dyskinesia, primary, 49, without situs inversus MONDO:0016575 -MONDO:0859354 thyroid hormone metabolism, abnormal, 3 OMIM:620198 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 3 MONDO:0031432 MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620199 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses -MONDO:0859356 congenital disorder of glycosylation, iia iiy OMIM:620200 MONDO:equivalentTo congenital disorder of glycosylation, iia iiy MONDO:0005501 -MONDO:0859357 congenital disorder of glycosylation, iia iiz OMIM:620201 MONDO:equivalentTo congenital disorder of glycosylation, iia iiz MONDO:0005501 -MONDO:0859358 cardiomyopathy, dilated, 2h OMIM:620203 MONDO:equivalentTo cardiomyopathy, dilated, 2h MONDO:0016333 MONDO:0859359 blood group, er OMIM:620207 MONDO:equivalentTo blood group, er -MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 OMIM:620208 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM:620210 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia -MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620211 MONDO:equivalentTo hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 -MONDO:0859363 spastic paraplegia 79a, autosomal dominant, with ataxia OMIM:620221 MONDO:equivalentTo spastic paraplegia 79a, autosomal dominant, with ataxia MONDO:0019064 -MONDO:0859364 spermatogenic failure 80 OMIM:620222 MONDO:equivalentTo spermatogenic failure 80 MONDO:0004983 MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM:620224 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures -MONDO:0859366 deafness, autosomal dominant 85 OMIM:620227 MONDO:equivalentTo deafness, autosomal dominant 85 MONDO:0019587 -MONDO:0859367 retinitis pigmentosa 96 OMIM:620228 MONDO:equivalentTo retinitis pigmentosa 96 MONDO:0019200 MONDO:0859368 short qt syndrome 7 OMIM:620231 MONDO:equivalentTo short qt syndrome 7 MONDO:0859369 joint contractures, osteochondromas, and b-cell lymphoma OMIM:620232 MONDO:equivalentTo joint contractures, osteochondromas, and b-cell lymphoma MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:620233 MONDO:equivalentTo respiratory infections, recurrent, and failure to thrive with or without diarrhea MONDO:0859371 rhabdomyolysis, susceptibility to, 1 OMIM:620235 MONDO:equivalentTo rhabdomyolysis, susceptibility to, 1 -MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM:620236 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:0024573 -MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 OMIM:620237 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 78 MONDO:0019502 -MONDO:0859374 deafness, autosomal recessive 120 OMIM:620238 MONDO:equivalentTo deafness, autosomal recessive 120 MONDO:0019588 MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities OMIM:620240 MONDO:equivalentTo developmental delay with hypotonia, myopathy, and brain abnormalities -MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to OMIM:620241 MONDO:equivalentTo hydrocephalus, congenital, 5, susceptibility to MONDO:0016349 MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM:620242 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities -MONDO:0859378 leukodystrophy, hypomyelinating, 25 OMIM:620243 MONDO:equivalentTo leukodystrophy, hypomyelinating, 25 MONDO:0019046 -MONDO:0859379 lymphatic malformation 13 OMIM:620244 MONDO:equivalentTo lymphatic malformation 13 MONDO:0019313 -MONDO:0859380 episodic kinesigenic dyskinesia 3 OMIM:620245 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 MONDO:0044202|MONDO:0044807 -MONDO:0859381 cardiomyopathy, dilated, 1oo OMIM:620247 MONDO:equivalentTo cardiomyopathy, dilated, 1oo MONDO:0016333 -MONDO:0859382 cataract 50 with or without glaucoma OMIM:620253 MONDO:equivalentTo cataract 50 with or without glaucoma MONDO:0005129 -MONDO:0859383 ichthyosis hystrix OMIMPS:146590 MONDO:equivalentTo Ichthyosis hystrix -MONDO:0859384 lacrimoauriculodentodigital syndrome OMIMPS:149730 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome -MONDO:0859385 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome OMIMPS:213980 MONDO:equivalentTo Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome -MONDO:0859386 epidermodysplasia verruciformis, susceptibility to OMIMPS:226400 MONDO:equivalentTo Epidermodysplasia verruciformis, susceptibility to -MONDO:0859387 glycogen storage disease OMIMPS:232200 MONDO:equivalentTo Glycogen storage disease -MONDO:0859388 carey-fineman-ziter syndrome OMIMPS:254940 MONDO:equivalentTo Carey-Fineman-Ziter syndrome MONDO:0859389 knobloch syndrome OMIMPS:267750 MONDO:equivalentTo Knobloch syndrome -MONDO:0859390 epilepsy, x-linked, with or without impaired intellectual development and dysmorphic features OMIMPS:300491 MONDO:equivalentTo Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features -MONDO:0859391 ichthyosis, annular epidermolytic OMIMPS:607602 MONDO:equivalentTo Ichthyosis, annular epidermolytic -MONDO:0859392 developmental delay with short stature, dysmorphic facial features, and sparse hair OMIMPS:616901 MONDO:equivalentTo Developmental delay with short stature, dysmorphic facial features, and sparse hair -MONDO:0859393 atelis syndrome OMIMPS:620184 MONDO:equivalentTo Atelis syndrome -MONDO:0859476 radioulnar synostosis, nonsyndromic, susceptibility to OMIM:179300 MONDO:equivalentTo radioulnar synostosis, nonsyndromic, susceptibility to MONDO:0859477 spermatogenic failure, x-linked, 5 OMIM:301099 MONDO:equivalentTo spermatogenic failure, x-linked, 5 MONDO:0859478 spermatogenic failure, x-linked, 6 OMIM:301101 MONDO:equivalentTo spermatogenic failure, x-linked, 6 -MONDO:0859479 spinocerebellar ataxia 49 OMIM:619806 MONDO:equivalentTo spinocerebellar ataxia 49 MONDO:0020380 -MONDO:0859480 developmental and epileptic encephalopathy 103 OMIM:619913 MONDO:equivalentTo developmental and epileptic encephalopathy 103 MONDO:0100062 -MONDO:0859481 dystonia 35, childhood-onset OMIM:619921 MONDO:equivalentTo dystonia 35, childhood-onset MONDO:0044807 -MONDO:0859482 intellectual developmental disorder, autosomal dominant 67 OMIM:619927 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 67 MONDO:0100172 -MONDO:0859483 intellectual developmental disorder, autosomal recessive 76 OMIM:619931 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 -MONDO:0859484 intellectual developmental disorder, autosomal dominant 68 OMIM:619934 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 68 MONDO:0100172 -MONDO:0859485 immunodeficiency 106, susceptibility to viral infections OMIM:619935 MONDO:equivalentTo immunodeficiency 106, susceptibility to viral infections MONDO:0021094 -MONDO:0859486 spermatogenic failure 74 OMIM:619937 MONDO:equivalentTo spermatogenic failure 74 MONDO:0004983 -MONDO:0859487 premature ovarian failure 20 OMIM:619938 MONDO:equivalentTo premature ovarian failure 20 MONDO:0019852 -MONDO:0859488 waardenburg syndrome, iia 2f OMIM:619947 MONDO:equivalentTo waardenburg syndrome, iia 2f MONDO:0018094 -MONDO:0859489 spermatogenic failure 75 OMIM:619949 MONDO:equivalentTo spermatogenic failure 75 MONDO:0004983 -MONDO:0859490 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 OMIM:619950 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 3 MONDO:0031400 -MONDO:0859491 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 OMIM:619951 MONDO:equivalentTo tessadori-bicknell-van haaften neurodevelopmental syndrome 4 MONDO:0031400 -MONDO:0859492 spastic paraplegia 87, autosomal recessive OMIM:619966 MONDO:equivalentTo spastic paraplegia 87, autosomal recessive MONDO:0019064 -MONDO:0859493 developmental and epileptic encephalopathy 104 OMIM:619970 MONDO:equivalentTo developmental and epileptic encephalopathy 104 MONDO:0100062 -MONDO:0859494 developmental and epileptic encephalopathy 105 with hypopituitarism OMIM:619983 MONDO:equivalentTo developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 -MONDO:0859495 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection OMIM:619986 MONDO:equivalentTo immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0021094 -MONDO:0859496 intellectual developmental disorder, autosomal recessive 77 OMIM:619988 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 -MONDO:0859497 cholestasis, progressive familial intrahepatic, 12 OMIM:620010 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 12 MONDO:0015762 -MONDO:0859498 lymphatic malformation 12 OMIM:620014 MONDO:equivalentTo lymphatic malformation 12 MONDO:0019313 -MONDO:0859499 advance sleep phase syndrome, familial, 4 OMIM:620015 MONDO:equivalentTo advance sleep phase syndrome, familial, 4 MONDO:0015609 -MONDO:0859500 arthrogryposis, distal, iia 11 OMIM:620019 MONDO:equivalentTo arthrogryposis, distal, iia 11 MONDO:0019942 -MONDO:0859501 stickler syndrome, iia 6 OMIM:620022 MONDO:equivalentTo stickler syndrome, iia 6 MONDO:0019354 -MONDO:0859502 developmental and epileptic encephalopathy 106 OMIM:620028 MONDO:equivalentTo developmental and epileptic encephalopathy 106 MONDO:0100062 -MONDO:0859503 ciliary dyskinesia, primary, 48, without situs inversus OMIM:620032 MONDO:equivalentTo ciliary dyskinesia, primary, 48, without situs inversus MONDO:0016575 -MONDO:0859504 developmental and epileptic encephalopathy 107 OMIM:620033 MONDO:equivalentTo developmental and epileptic encephalopathy 107 MONDO:0100062 -MONDO:0859505 dyskeratosis congenita, digenic OMIM:620040 MONDO:equivalentTo dyskeratosis congenita, digenic MONDO:0015780 -MONDO:0859506 microcephaly 29, primary, autosomal recessive OMIM:620047 MONDO:equivalentTo microcephaly 29, primary, autosomal recessive MONDO:0016660 -MONDO:0859507 nephrotic syndrome, iia 26 OMIM:620049 MONDO:equivalentTo nephrotic syndrome, iia 26 MONDO:0002350 -MONDO:0859508 polycystic kidney disease 7 OMIM:620056 MONDO:equivalentTo polycystic kidney disease 7 MONDO:0020642 -MONDO:0859509 charcot-marie-tooth disease, axonal, iia 2ii OMIM:620068 MONDO:equivalentTo charcot-marie-tooth disease, axonal, iia 2ii MONDO:0015626 -MONDO:0859510 diamond-blackfan anemia 21 OMIM:620072 MONDO:equivalentTo diamond-blackfan anemia 21 MONDO:0015253 -MONDO:0859511 spermatogenic failure 76 OMIM:620084 MONDO:equivalentTo spermatogenic failure 76 MONDO:0004983 -MONDO:0859512 spermatogenic failure 77 OMIM:620103 MONDO:equivalentTo spermatogenic failure 77 MONDO:0004983 -MONDO:0859513 amelogenesis imperfecta, iia 1k OMIM:620104 MONDO:equivalentTo amelogenesis imperfecta, iia 1k MONDO:0019507 MONDO:0859514 congenital myopathy 18 OMIM:620246 MONDO:equivalentTo congenital myopathy 18 MONDO:0859515 congenital myopathy 10b, mild variant OMIM:620249 MONDO:equivalentTo congenital myopathy 10b, mild variant MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM:620250 MONDO:equivalentTo neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum @@ -311,11 +209,19 @@ MONDO:0859530 myopathy, sarcoplasmic body OMIM:620286 MONDO:equivalentTo myopath MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures OMIM:620292 MONDO:equivalentTo neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures MONDO:0859532 congenital heart defects, multiple types, 9 OMIM:620294 MONDO:equivalentTo congenital heart defects, multiple types, 9 MONDO:0859533 myopathy, congenital (see also nemaline myopathy ({ps161800}), myofibrillar myopathy ({ps601419}), and centronuclear myopathy ({ps160150}) OMIMPS:117000 MONDO:equivalentTo Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) -MONDO:0859534 macular dystrophy, retinal OMIMPS:136550 MONDO:equivalentTo Macular dystrophy, retinal -MONDO:0859535 diaphragmatic hernia OMIMPS:142340 MONDO:equivalentTo Diaphragmatic hernia -MONDO:0859536 panic disorder OMIMPS:167870 MONDO:equivalentTo Panic disorder -MONDO:0859537 cardiac valvular defect OMIMPS:212093 MONDO:equivalentTo Cardiac Valvular Defect -MONDO:0859538 mucolipidosis OMIMPS:256550 MONDO:equivalentTo Mucolipidosis -MONDO:0859539 severe combined immunodeficiency (select examples) OMIMPS:601457 MONDO:equivalentTo Severe combined immunodeficiency (select examples) -MONDO:0859540 bent bone dysplasia syndrome OMIMPS:614592 MONDO:equivalentTo Bent bone dysplasia syndrome -MONDO:0859541 braddock-carey syndrome OMIMPS:619980 MONDO:equivalentTo Braddock-Carey Syndrome +MONDO:0859563 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant MONDO:0018037 +MONDO:0859564 epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features OMIM:301091 MONDO:equivalentTo epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:0859390 +MONDO:0859565 atrioventricular septal defect OMIM:606215 MONDO:equivalentTo atrioventricular septal defect MONDO:0020290 +MONDO:0859566 pulmonary disease, chronic obstructive OMIM:606963 MONDO:equivalentTo pulmonary disease, chronic obstructive +MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 OMIM:616994 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 +MONDO:0859568 macular dystrophy, retinal, 4 OMIM:619977 MONDO:equivalentTo macular dystrophy, retinal, 4 MONDO:0031166 +MONDO:0859569 braddock-carey syndrome 1 OMIM:619980 MONDO:equivalentTo braddock-carey syndrome 1 MONDO:0031646 +MONDO:0859570 braddock-carey syndrome 2 OMIM:619981 MONDO:equivalentTo braddock-carey syndrome 2 MONDO:0031646 +MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects OMIM:620025 MONDO:equivalentTo diaphragmatic hernia 4, with cardiovascular defects MONDO:0005711 +MONDO:0859572 cardiac valvular dysplasia 2 OMIM:620067 MONDO:equivalentTo cardiac valvular dysplasia 2 MONDO:0031323 +MONDO:0859573 bent bone dysplasia syndrome 2 OMIM:620076 MONDO:equivalentTo bent bone dysplasia syndrome 2 MONDO:0031615 +MONDO:0859574 ichthyosis, annular epidermolytic, 2 OMIM:620148 MONDO:equivalentTo ichthyosis, annular epidermolytic, 2 MONDO:0011870 +MONDO:0859575 atelis syndrome 1 OMIM:620184 MONDO:equivalentTo atelis syndrome 1 MONDO:0859393|MONDO:0000141 +MONDO:0859576 atelis syndrome 2 OMIM:620185 MONDO:equivalentTo atelis syndrome 2 MONDO:0859393|MONDO:0000141 +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 OMIM:620192 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 MONDO:0007872 +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 OMIM:620193 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 MONDO:0007872 diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 40a185bf..a73054cd 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,39 +1,7 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % MONDO:0850004 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Orphanet:253 MONDO:equivalentTo Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia MONDO:0018230 -MONDO:0850005 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Orphanet:435930 MONDO:equivalentTo Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. MONDO:0000001 MONDO:0850007 syndromic lacrimal system disorder Orphanet:519274 MONDO:equivalentTo Syndromic lacrimal system disorder MONDO:0020195 -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations MONDO:0019503 -MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia MONDO:0020235 -MONDO:0850010 congenital optic disc excavation Orphanet:519333 MONDO:equivalentTo Congenital optic disc excavation MONDO:0020145 -MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence MONDO:0005570 -MONDO:0850016 amniotic fluid embolism Orphanet:617304 MONDO:equivalentTo Amniotic fluid embolism MONDO:0000001 -MONDO:0850017 classic eosinophilic pustular folliculitis Orphanet:617408 MONDO:equivalentTo Classic eosinophilic pustular folliculitis MONDO:0000001 -MONDO:0850019 conjunctival malignant melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma MONDO:0000001 -MONDO:0850020 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:617916 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0000001|MONDO:0017027 -MONDO:0850021 f12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome MONDO:0000001|MONDO:0016168 -MONDO:0850022 chronic neurovisceral acid sphingomyelinase deficiency Orphanet:618891 MONDO:equivalentTo Chronic neurovisceral acid sphingomyelinase deficiency MONDO:0000001 -MONDO:0850023 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0019050|MONDO:0015159|MONDO:0000001 -MONDO:0850024 inherited hematologic cancer-predisposing syndrome Orphanet:619340 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome MONDO:0015356 -MONDO:0850025 neonatal-onset severe multisystemic autoinflammatory disease with increased il18 Orphanet:619363 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0000001 -MONDO:0850026 samd9l-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome MONDO:0000001|MONDO:0018782 -MONDO:0850027 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0015978|MONDO:0000001 -MONDO:0850028 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0016537|MONDO:0000001 -MONDO:0850029 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0016537|MONDO:0000001 -MONDO:0850030 cadins disease Orphanet:619972 MONDO:equivalentTo CADINS disease MONDO:0000001|MONDO:0018037 -MONDO:0850031 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0000001|MONDO:0019222 -MONDO:0850032 non-syndromic unisutural craniosynostosis Orphanet:620096 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis MONDO:0015337 -MONDO:0850033 non-syndromic multisutural craniosynostosis Orphanet:620152 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis MONDO:0015337 -MONDO:0850034 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0016565|MONDO:0017765|MONDO:0000001|MONDO:0015962 -MONDO:0850035 egf-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability MONDO:0015962|MONDO:0017765|MONDO:0000001 -MONDO:0850036 gitelman-like kidney tubulopathy due to mitochondrial dna mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0000001|MONDO:0015962|MONDO:0019743 -MONDO:0850037 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:621758 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0000001|MONDO:0017019|MONDO:0024237 -MONDO:0850038 autoimmune encephalitis Orphanet:622014 MONDO:equivalentTo Autoimmune encephalitis MONDO:0019956 -MONDO:0850039 superior mesenteric artery syndrome Orphanet:622099 MONDO:equivalentTo Superior mesenteric artery syndrome MONDO:0000001 -MONDO:0850043 body integrity dysphoria Orphanet:623789 MONDO:equivalentTo Body integrity dysphoria MONDO:0000001 -MONDO:0850044 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis MONDO:0000001|MONDO:0015141 -MONDO:0850047 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis MONDO:0000001|MONDO:0018215 -MONDO:0850055 early-onset obesity-hyperphagia-severe developmental delay syndrome Orphanet:99704 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0000001|MONDO:0016565 MONDO:0858986 autosomal dominant spastic paraplegia type 80 Orphanet:631068 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 80 MONDO:0000001|MONDO:0015088 MONDO:0858987 autosomal recessive spastic paraplegia type 82 Orphanet:631073 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 82 MONDO:0000001|MONDO:0015089 MONDO:0858988 autosomal recessive spastic paraplegia type 83 Orphanet:631076 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 83 MONDO:0000001|MONDO:0015090 @@ -58,7 +26,4 @@ MONDO:0859006 proximal femoral focal deficiency Orphanet:633228 MONDO:equivalent MONDO:0859007 mosaic legius syndrome Orphanet:634511 MONDO:equivalentTo Mosaic Legius syndrome MONDO:0019289|MONDO:0000001 MONDO:0859008 neurofibromatosis/schwannomatosis Orphanet:634518 MONDO:equivalentTo Neurofibromatosis/schwannomatosis MONDO:0016756|MONDO:0015356 MONDO:0859437 Orphanet:C001 MONDO:equivalentTo -MONDO:0859549 hemophilia b leyden Orphanet:617930 MONDO:equivalentTo Hemophilia B Leyden MONDO:0010604 -MONDO:0859550 x-linked severe syndromic thoracic aortic aneurysm and dissection Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0017310|MONDO:0800091 -MONDO:0859551 sbds-related severe neonatal spondylometaphyseal dysplasia Orphanet:622934 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0019694 -MONDO:0859552 mir140-related spondyloepiphyseal dysplasia Orphanet:623695 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia MONDO:0019695 +MONDO:0859692 immune-mediated cerebellar ataxia Orphanet:623638 MONDO:equivalentTo Immune-mediated cerebellar ataxia MONDO:0020640|MONDO:0016593